by | January 23, 2024 · 12:44 PM

The Naïve Assumption Underlyng Polygenic Screening For Common Conditions

Polygenic risk scores* are all the rage these days. Thousands of articles and research studies have attempted to link polygenic scores to just about every medical condition, behavior, and trait you can think of, and a few I had not thought of such as reproductive behavior. They have contributed to improving our understanding of human genetic architecture, hold potential for guiding treatment decisions, and have started to open the black box of gene-environment interplay, to name a few applications. Polygenic scores have laid bare the racial/ethnic bias in genetic data bases that have proven to be overwhelmingly comprised of people of Northern and Western European ancestry and shamed the genetics community into striving to better serve all communities. They have also been used inappropriately in clinical practice, such as with preimplantation genetic testing to predict potential height and intelligence of an embryo (quite poorly as it turns out) to determine its “implant-worthiness.” 

The value of polygenic scores in clinical settings, despite the optimism expressed in many of the publications, remains unproven for the most part. Time and more research will presumably filter out the clinical winners from the losers. But we also need to sort through the thorny ethical, economic, and social justice issues with equal intensity and resources. 

One particular application of polygenic screening is undermined by a naïve understanding of human psychology and a failure to learn from past experience in genetics – population polygenic screening for common conditions such as cardiovascular disease, diabetes, hypertension, and cancer. I don’t believe that polygenic scores will have a particularly strong impact on reducing the impact on morbidity and mortality from these common conditions. There is ample evidence that genetic testing has little or no effect on risk-reducing behaviors. In fact, I’d go as far to say that the research investment into population polygenic screening for these conditions is disproportional to their likely medical benefit.

The aim of polygenic screening for health conditions is to produce a number, some likelihood that a healthy person will eventually develop condition X, and that risk estimate would be the basis of medical recommendations to reduce or manage the risk. As with all likelihood estimates in clinical care, polygenic screens, with or without inclusion of demographic and clinical variables, will be imperfect, maybe slightly more or less imperfect than estimates derived by other means. Genetic counselors have been dealing with such numbers since we first entered clinics half a century ago and began providing patients with empirical recurrence risks for genetic conditions or the probability of having a baby with an aneuploidy based on parental age or screening results. Some think that providing numbers is the purpose of genetic counseling but it turns out to be only the beginning of the counseling session (emphasis on counseling).

The naïve assumption underlying polygenic screening for common conditions is that the risk number will magically motivate people to undergo more frequent colonoscopies, breast MRI, change their diet, stop smoking, exercise more, and reduce the stress in their lives. Yeah, well, good luck with that, at least on any large scale, on a sustained basis, and outside the context of a research study of self-selected participants conducted over a short time span. Sure, some people will be nudged into screening uptake or lifestyle changes, and a smaller percentage may even keep it up. But decades of experience have shown that most people are going to continue doing what they are doing with their lives – healthy behaviors or not – thank you very much.

There is a persistent but mistaken view in genetics, and medicine in general, that the human psyche is an objective statistical risk calculator and the “right” number will motivate people to do the “right” thing. This is a zombie concept that, like nondirectiveness, refuses to die. But the human mind is a complex and not entirely rational system, at least not like a Sherlock Holmes ratiocinative detective type of rationality. Numbers are embedded in a patient’s psychological, emotional, life-history, social, economic and political matrix that can vary over the short and long term. Numbers are interpreted or misinterpreted or denied or ignored such that it fits into the patient’s elastic view of the world. The results are often decisions that seem to make no sense or appear ludicrous to medical professionals but makes perfect sense to patients at this point in their lives. That decision could change over time, sometimes for apparent reasons such as the death of a family member, and sometimes for no obvious reason. They can even change from a “good” decision to a “bad” decision. 

Of course, some people seem to be nominally objective decision-makers, the so-called engineer or statistician types. The patients who suddenly become actively engaged in the genetic counseling session once numbers are tossed out for discussion, dissecting and closely questioning their accuracy, how they were derived, and what the confidence intervals are. If you bring up statistical measures such as area under the curve or Cox proportional hazards, they even seem mildly sexually aroused. But the engineers and statisticians ultimately interpret numbers psychologically, just like the rest of us.

I don’t mean to imply that polygenic scores are totally useless. One of our jobs in medicine is to find ways to reduce the impact of disease on patients’ lives and polygenic scores might provide some help to that end. Research into polygenic traits can contribute to the scientific understanding of human and medical genetics. And polygenic scores will likely have some clinical utility. I can see some settings where a health risk has already been identified and a polygenic score can help further refine that risk. For example, polygenic scores might modify the ovarian or breast cancer risk or the age of onset in a patient who carries a pathogenic BRCA1 variant. It could then influence timing of risk-reducing surgeries or help determine if such surgeries are even necessary. Readers can undoubtedly think of other scenarios where polygenic screens might help influence decision making by high risk or affected patients.

The claims about polygenic scores are like a historical replay of the HLA story. During the 1970s, the HLA system was found to be associated with a wide range of conditions and many researchers were predicting HLA testing would be useful in disease prediction (I was even briefly involved with such a study in the late 1970s). As it turned out, HLA was not particularly useful for disease prediction on a clinically meaningful scale, although studying the HLA system has produced a number of other benefits That being said, there are outrageous applications of HLA testing currently available, such as using HLA typing to determine if a couple are “genetically” attracted to each other.

We need to scale back expectations that population polygenic screening will significantly reduce the morbidity and mortality stemming from common conditions. I suspect that its impact on disease and death will be modest and at times unclear, perhaps with an occasional success story. The minimal research that has been done to date on the uptake of screening or other medical recommendations after a polygenic screen have produced mixed results and are not overwhelmingly convincing, though of course further research may prove otherwise.

There are also technical reasons to suspect that polygenic screens may not work well on a population level  as measured by detection rates, false positive rates, and positive predictive values. In addition, existing inequities in access to and utilization of health care will further reduce the utilization of polygenic scores and subsequent follow-up of medical management recommendations by patients. If you don’t have access to good medical care and the appropriate interventions, or you can’t pay for it, or you have a lack of trust in the system, what good is screening?

Figure 2 from Hingorani AD, et al, BMJ Medicine 2023;2:e000554. doi: 10.1136/bmjmed-2023-000554 Performance in screening estimated for polygenic risk scores included in the Polygenic Score Catalog from April 2022. Limits of each box represent interquartile range and horizontal line within each box is estimated detection rate for a 5% false positive rate (DR5) based on performance metrics reported for corresponding polygenic risk scores. Selected diseases are colour coded into categories cancers, cardiometabolic conditions, ocular diseases, allergic or autoimmune diseases, bone disease, and neuropsychiatric diseases. Horizontal line is estimated median DR5 value based on performance metrics for all 926 polygenic risk scores and all diseases studied in the Polygenic Score Catalog.

We need to take a hard look at just what we expect to achieve with polygenic scores. A lot of energy, resources, and finances go into research and publications about polygenic screens. Perhaps that time and money could better be directed to research where benefits of polygenic testing are more likely to be realized or to other areas of genetic research altogether, like how and why people make decisions about healthcare and how it is affected by personal, economic, social, historical, and political factors (think Covid vaccination uptake). 

The medical genetics community may be resistant to my recommendations. Some of that resistance will be based on thoughtful and understandable disagreement with my opinions and their own assessment of the potential of polygenic scores in a population setting. But underlying some of that disagreement, and some of the enthusiasm for polygenic scores, is that all the players in the genetic testing game have blind spots and conflicts of interest. Researchers in the academic/clinical research industrial complex need grants and publications to further their careers. This includes not only Principal Investigators, but also the many other people necessary to conduct research – ethicists, research assistants, junior investigators, etc. The genetic counseling profession has for better and worse taken up genetic testing as its defining role in the medical system, and genetic counselors working in direct patient care demonstrate their economic worth to their employers by increasing the downstream revenue that results from genetic testing (revenue raised directly by genetic counseling alone is rarely enough to cover salaries and benefits). Commercial laboratories make their money by selling genetic tests; not a bad thing in and of itself but it can cloud one’s views. With all these players all talking the same game, they can lose sight of what’s good for the fans and unintentionally prioritize what’s good for the teams, such as citing improving institutional revenue from increased imaging as one of the benefits of polygenic scores or direct-to-consumer commercial labs offering polygenic scores when the health benefits remain at best unclear. I am not suggesting that researchers, genetic counselors, and labs are unethical and I am not questioning their dedication to quality medical care for patients. They are just being human and the human mind has a way of persuading itself that it’s doing the noble thing when in fact it may be putting its own interests first.

People interpret numbers how they want to interpret them. We see evidence of this on a large scale every day. Climate change is ignored in the face of rising temperatures and melting ice packs. Election results are denied because they don’t conform to the desired outcome. Millions of pandemic deaths are explained away as falsified or manipulated numbers to justify disregarding public health measures. This holds equally true for the results of genetic testing in populations. If we want genetic testing to be useful to our very human patients, we must develop a more sophisticated and less naïve understanding of the human psyche.

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* – There is some controversy about the name “polygenic risk score.” “Risk” tends to evoke anxiety in our minds; typically, one is not at risk for good outcomes, like winning a large lottery prize. It also implies a value judgment on the condition being screened for. Many people would argue that deafness or autism are desirable or normal outcomes, not something that one is at risk for. Alternatives include “polygenic score” or “polygenic index.” I like my own coinage – “polygenic screen” –  when referring specifically to polygenic risk scores for medical conditions in healthy people since it implies the test is not diagnostic (yes, I know, people tend to confuse diagnostic tests with screening tests à la NIPT). In this posting, I use all these terms more or less interchangeably because, well, I can’t make up my mind which I prefer.

In order to distinguish between the various applications of polygenic scores, consider these suggestions for a possible terminology:

Polygenic Index – when used to predict a non-medical trait, such as height or intelligence.

Polygenic Screen – when applied to population screening for common medical conditions.

Polygenic Risk Score – when applied to a population previously identified as being at high risk for, or affected by, a medical condition, such as breast cancer, to potentially guide treatment, risk reduction, and surveillance recommendations.

To distinguish between a polygenic only model and a model that combines SNP analysis with clinical and demographic factors, a “+” could be added, e.g., Polygenic Screen+– Breast Cancer to denote a breast cancer risk prediction model that incorporates SNP analysis with the Tyrer-Cuzick or other breast cancer risk prediction model.

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by | January 9, 2024 · 2:26 PM

Dogs, Ducks, and Disney: Eugenic Themes From Toon World

The collective memory of eugenics is that it was an ideology of archconservatives that thrived during the first half of the 20th century and whose demise was hastened by the horrors of Nazi Germany. We like to think that we now know better. Better science, better morals, better guiding ethical principles. Heck, we must even be better people. It may be a comforting story, but historians of science have been pointing out for decades that this collective memory is flawed. Eugenic ideologies and policies, usually under different labels and in various forms, can be found today in science, medicine, and social policies.

Strands of eugenic beliefs also became embedded into popular culture. For example, as historian of science Paul Lombardo has demonstrated, references to eugenics could be found in the advertisements of popular magazines and newspapers in the first half of the 20th century, suggesting that the average American was familiar enough with eugenics that the term needed no explanation. For marketing purposes, eugenics implied excellent consumer products such as diamonds, hair styles, and hair shoes, in much the same way that many companies today will state that the quality of its products or the company’s dedication to customer service is part of the company’s DNA. There are many other examples of eugenic themes in 20th and 21st century novels, films, comics, and video games.

Along these lines, I recently came across two Walt Disney cartoons that echo eugenic themes. I couldn’t believe it at first. I thought maybe it was just my hyperactive eugenics paranoia kicking in and deluding me. After all, I tend to see eugenic monsters lurking under my bed at night. But the more I studied the cartoons, the more convinced I became. 

Disclaimer: I have no reason to believe that Walt Disney himself was a dyed-in-the-wool eugenicist or that the Walt Disney Company is a front for a nefarious eugenics media empire. Rather, these cartoons illustrate how eugenic ideology was so pervasive that it subtly and not so subtly became woven into the fabric of American popular culture. It could appear in a cartoon without the creators having a single eugenic bone in their body. Or it could manifest under a different name, so disguised that a cartoonist might not recognize it for what it was.

The first cartoon, Goofy’s Adventure Story from 1954, tells the story of the family history of the Disney character Goofy. Goofy is an anthropomorphized dog who first appeared in 1932 – the heyday of classic eugenics – as the character Dippy Dawg. The cartoon includes a family tree in reverse order of tree growth, i.e., with the ancestral Caveman Goofy at its apex and 1950s Goofy at its base (which, curiously, is how family trees were typically drawn until about the 15th century). Descending between the two is a lineage of historical Goofy characters. Each ancestor is basically a stereotypical White European (for the moment, ignoring Goofy’s canine heritage*). In the cartoon, each character does something, well, goofy, in keeping with the character’s namesake trait. Goofy appears to be part of a patrilineal society since there are no female ancestors on the tree.

Goofy’s Family Tree from the 1954 Disney Cartoon “Goofy’s Adventure Story” Goofy’s Adventure Story https://www.postbeeld.com/media/catalog/product/cache/2/small_image
/400×400/730f6beb335f248cfe85fdbb46a85728/o/e/oepb175.jpg

The family tree was a powerful symbol for eugenicists, who recognized the value of graphics in getting their point across. The many pedigrees of “feeble-minded” families produced by eugenicists were used to “prove” that intelligence was inherited in Mendelian fashion and that the people at the lower end of the intelligence spectrum were breeding at such incredible rates that the very existence of society was threatened by their reproductive drive, low intelligence, and propensity to crime and poverty. The pedigrees of “feeble-minded” families – typically poor and from “degenerate races” – reflected the race and class biases of eugenicists, who were primarily economically well-off Northern and Western White men. 

Goofy’s family tree is a variation on these eugenic pedigrees. Goofy’s tree is peopled with Noble White Man tropes so beloved by eugenicists, such as Roman emperors, Greek warriors, knights in armor, and Pilgrims. In keeping with Goofy’s nature, these figures are presented in comic form. But the comic form gets at the essence of the connection to eugenics. Think about it for a moment – the name Goofy is synonymous with “feeble-minded,” a connection reinforced by his signature “Hyuk, Hyuk” laugh and two widely-separated upper teeth (which don’t look like canines to see). Disney, of course, wasn’t trying to revive classic eugenics. Rather, Goofy’s pedigree illustrates how the eugenic notion that intelligence was inherited and ran for generations within families was so engrained into the public consciousness that, even without thinking about eugenics. it was natural to create a “feeble-minded” cartoon character who has a family tree full of “feeble-mindedness.” Goofy’s family history is a modified and cartoonized version of the pedigrees of the Jukes, the Kallikaks, the Hill Folk, the Mongrel Virginians, the Pineys, the Nam Family, and the many other “degenerate” families described by eugenicists.

Logo of the Proceedings of the Second International Eugenics Congress held in 1923 https://www.ncpedia.org/media/logo-second-international
Eugenics book published in 1925 emphasizing, in the words of one reviewer, the “unescapable predominance of heredity in determining the physical, intellectual, and moral quality of the race.” https://www.theatlantic.com/magazine/archive/1925/04/the-fruit-of-the-family-tree/648080/
A rendering of the Kallikak Family tree from a 1950s psychology text (contemporaneous with Goofy’s family tree), based on the 1912 book “The Kallikak Family: A Study in the Heredity of Feeblemindedness” by Henry Goddard. https://en.wikipedia.org/wiki/The_Kallikak_Family
Pedigree produced by the Eugenics Record Office allegedly demonstrating the inheritance of “feeble-mindedness“
https://dnalc.cshl.edu/view/15749-Pedigree-of-feeblemindedness.html.

The Goofy family tree also includes an odd appendage, one that I have decided to believe is unintentionally inappropriate and reflective of what was considered acceptable at the time rather than a, uh, racist dog whistle. Dangling from the lowest branch on the left is a noose. I am not exactly sure what a noose is doing here although I guess it’s somehow connected to Wyatt Earp Goofy, who appears to be nailing a Wanted poster to a tree. Not that I expect a cartoon to be historically accurate, but Earp is not particularly associated with hangings, and in fact helped disperse a mob that was intent on hanging a man accused of murder. The noose, of course, is an image used by White supremacist racists to try to strike fear in the hearts of Black people in America. Along these lines, in the cartoon Wild Bill Goofy shoots a Native American in a manner that’s somehow supposed to be humorous, and the appearances of Native Americans and South Seas “cannibals” are depicted stereotypically.

In another weird twist, the country the Goofy Family Tree appeared on a postal stamp issued by Uganda in 1992, celebrating the 60th anniversary of the creation of the Goofy character (Disney characters were licensed for use on postage stamps in many countries). 

In the other eugenic-themed Disney cartoon, titled Family Planning, Donald Duck helps a disembodied narrator explain family planning. The cartoon does not detail the specific methods of family planning other than “taking pills” and “using simple devices.” Just as well, I guess. I for one was not interested in Donald Duck demonstrating how to use a condom or Donald and Daisy practicing the rhythm method.

This educational cartoon was produced in 1968 for the Population Council by Walt Disney Productions and scripted by Disney veteran Bill Bosché. This organization was founded with money from the Rockefellers, who had a history of funding eugenics organizations and initiatives, to help solve the supposed problem of global over-population. Today, the Population Council has a very different focus and set of values, but in the 1950s and 1960s it was primarily concerned with the planet’s growing population, especially in poorer countries (India seemed to be a particular concern) and urban centers in the US with large populations of Blacks and Mexican Americans. 

Some of the Population Council’s early presidents had strong ties to pre-World War II eugenics, most notably Frederick Osborn. Osborn helped create the journal Eugenics Quarterly, was a founding member of the American Eugenics Society and a member of Britain’s Eugenics Society, and once characterized Nazi eugenics as “an important experiment.” After WWII, he apparently had a fall-off-his-ass experience and began portraying himself as a severe critic of classic eugenicists such as his uncle Henry Fairfield Osborn. He shifted his focus to positive eugenics (i.e., encouraging the “right” people to breed and encouraging the “wrong” people to voluntarily curb reproduction) and acknowledged the role that environment played in an individual’s development and lot in life, what might euphemistically be called a kindler, gentler eugenics. 

Despite Osborn’s claim to the contrary, these two quotes from 1965 and 1963, respectively, demonstrate that he had not fully shed some of his hard core eugenic beliefs:

…the average genetic character of parents of unwanted children is likely in the long run to be below average. An unusual proportion of these unwanted children grow up to be juvenile delinquents, unemployed, or social charges.

Every racial group has a certain proportion of genes for high ability…. It appears that ever since World War II, Negroes as a group have been increasing in numbers more rapidly than the Whites, with a probable trend during this period towards producing relatively fewer able individuals. This is the kind of dysgenic situation which eugenics aims to ready.

Osborn was no longer president when the cartoon was produced and as far as I know did not play a role in developing it. But his eugenic philosophy strongly influenced the organization’s policies during the 1960s. It’s this Osbornian view of humanity that guides the message of the Disney cartoon.

The cartoon’s central character is a peasant farmer with a skin tone a shade or two darker than white and who speaks English with what sounds to me like a Central American accent. When the family has only 3 children, the farmer is able to provide for his family – enough food, schooling, and a few simple possessions such as a radio. But, according to the cartoon, if the family goes on to have 4 more children, the farmer will no longer be able to provide enough food or otherwise meet the basic needs of his family. The parents become so tired they can barely care for their children, who grow weak and sickly. When the sons grow up, the small family plot will have to be divided among them, restricting their ability to care for their families. Heaven forbid, should the family move to the city they will be even worse off because they can’t afford to live there. The narrator’s solution is for the peasant to practice family planning so that reproduction is not “left to chance” and “you can only have the children you want.”

A peasant farmer from the 1968 Disney Cartoon “Family Planning,” produced for the Population Council.https://laughingsquid.com/family-planning-disney-animation-about-birth-control-starring-donald-duck-1968
A peasant farmer’s family, house, and farm plot from the 1968 Disney Cartoon “Family Planning,” produced for the Population Council. https://laughingsquid.com/family-planning-disney-animation-about-birth-control-starring-donald-duck-1968

Eugenic themes were not confined to cartoons. They can be found in other areas of popular culture from that era and even up to today. The Beverly Hillbillies (“a poor mountaineer who barely kept his family fed”) are the cultural descendants of Charles Davenport’s Hill Folk. As are the inhabitants of the hills of northern Georgia in James Dickey’s novel Deliverance (“Nobody worth a damn could ever came from this place.”) who terrorized the rich urban men seeking to display their manhood by spending a weekend rafting a wild river. Or, from a previous generation, the immigrant-hating horror novelist H.P. Lovecraft who wrote of unimaginable alien horrors lurking in the hills of New England (“West of Arkham the hills rise wild… When I went into the hills they told me the place was evil.”). In a clever thematic manipulation, the current TV series Lovecraft Country features Black characters facing the monsters of White racism across America’s 1950s South.

The current spate of zombie movies, novels, and television shows can be read as eugenic, with their mutated throngs of human monsters threatening the existence of Western civilization. Perhaps it’s no coincidence that the popularity of the zombie genre is blossoming during a time of anti-immigrant sentiment in Europe, America, and other places. Eugenics has an uncanny ability to morph and adapt to different times and different cultural milieus. And, like zombies, it refuses to die.

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  • – Someone really should perform whole genome sequencing on Goofy and Pluto to finally resolve the long-standing debate about the differences between the two, Goofy being a canine who is bipedal, language fluent, and a friend of Mickey Mouse whereas Pluto is a quadrupedal canine, incapable of speaking, and is Mickey’s pet. Surely the difference lies in their genomes.

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by | December 13, 2023 · 3:27 PM

Guest Post: New year, new name?

by Misha Raskin

At the recent annual conference for the National Society of Genetic Counselors (NSGC) in Chicago, there was a spirited debate about whether or not to change the genetic counselor name. An alternate name was not presented, but below is a word cloud of proposed alternate names which DNA Exchange author Bob Resta shared in his recent blog post, where he decided to decline supporting a name change. 

An informal poll that was circulated after the debate found that a significant percentage of genetic counselors were also wary of pursuing a name change. 

For those who have not seen the debate, there were two primary tensions between the “pro change” side and the “pro same” side. The “pro change” side argued that changing our profession’s name could bolster NSGCs Justice, Equity, Diversity and Inclusion (J.E.D.I.) action plan (https://www.nsgc.org/JEDI), theorizing that possibly one of the reasons that genetic counseling is less diverse than many other professions is that our name creates a branding and recruitment problem. The “pro same” side brought up that if we genetic counselors change our name, then we’d need to update all of our state licenses, plus the language in our pending legislation to have Medicare recognize genetic counselors. Mr. Resta agreed that these issues were also an important factor to consider. The pro-same side also brought up that Physician Assistants are currently changing their name to Physician Associate, and that the associated cost of their name change is estimated at approximately $22 million, which would obviously be a staggering expenditure for an organization like NSGC. 

Looking further at the “pro change” perspective, NSGC has rightly committed itself to implementing a successful J.E.D.I. Action Plan. Diverse teams provide better clinical care, better research, and build better businesses, all sectors where genetic counselors commonly contribute. Competing for diverse talent is in many ways the competition for the future. In a white paper published by the consultancy McKinsey in 2020, titled “Diversity Wins: How Inclusion Matters,” they outline the many ways that more gender and racially diverse organizations consistently outperform their less diverse competition, and argue for a greater focus on multivariate diversity (meaning “going beyond gender and ethnicity”). Currently, genetic counseling is among the least ethnically diverse fields in healthcare. We genetic counselors have an enormous amount to gain from a successful J.E.D.I. initiative. Over the long-term, perhaps far more than $22 million worth of benefit, if such a thing could be calculated. So, if strong evidence emerged that changing our name would substantially improve NSGCs odds of a successful J.E.D.I. program, then it’s prudent to consider this option with an open mind.  We can’t just say that we’ll implement a J.E.D.I. program “unless it’s challenging or expensive,” right? If NSGCs J.E.D.I. initiative is a priority, then we should prioritize it. And maybe, there isn’t as much sacrifice as the “pro same” side implies. 

Let’s also assess the state licensure argument more closely. There are lots of state licenses for all sorts of fields (see here and here for more info). Millions of people have state licenses all over the United States, including licenses for athletic trainers, auctioneers, and barbers, to name a few. So as a political matter, getting a state government to issue a professional license is often a manageable process. That’s why NSGC has approximately 35 state licenses. Importantly, a name change is drastically easier to navigate through a legislative body than a whole new license. Legislative bodies often use a “consent agenda” to take care of matters that are considered “technical and non-controversial.” It’s hard to imagine a piece of legislation that is more “technical and non-controversial” than changing the name on the genetic counselor license, as long as we don’t trigger a turf war by calling ourselves something like “doctor” or “geneticist.” In some states, we might even be able to get a name change done with volunteers, no lobbyists needed. And even in the states where we would need lobbyists and perhaps the consent agenda isn’t an option, this should not represent particularly expensive lobbying. If we genetic counselors decided to change our name, it would indeed require volunteer work to amend our state licenses, and it would have associated financial costs, but this is hardly an insurmountable hurdle – and one well worth jumping over to accomplish NSGCs Justice, Equity, Diversity, and Inclusion goals. 

Next, let’s investigate the argument that a name change could hamper our efforts on Medicare recognition. Medicare is a massive and expensive federal program, and while there are different ways to calculate it, many legislators believe that recognizing a new provider, such as a genetic counselor, would represent a cost to a program that is already too expensive. So, unlike a state license, getting the United States Congress to recognize a new provider under Medicare is politically extremely difficult. In fact, after nearly two decades of effort, NSGC still hasn’t made any substantial progress on Medicare recognition, which in the context of this debate (and really only in the context of this debate), is actually a good thing. We haven’t even made it through the House or Senate. So, our lack of Medicare recognition at the present time argues in favor of exploring a name change, not the other way around, since our bill is still going through a process where amendments are common anyway. 

To summarize, the benefits and costs of changing the genetic counselor title have not yet been fully flushed out. The debate at NSGC, while very thought provoking, was a starting-off point. We need to identify the best contender for an alternate name, and assess the benefits the alternate name is likely to generate. Perhaps the right name could both bolster the J.E.D.I. action plan and improve our prospects of gaining Medicare recognition, by better succinctly representing a genetic counselor’s value to the healthcare system. In parallel, we need to understand what the costs would be specifically for genetic counselors, as opposed to using Physician Assistants (I mean, Associates) as a proxy. PAs can already bill Medicare, have a different scope of practice, there are about 150 thousand of them in the United States, and there are likely many other differences. While their experience is of course informative, they are not a reasonable proxy. Once we have a better sense of what a name change would mean specifically for genetic counselors, then we can weigh the estimated benefits of the identified new name against the estimated costs. Importantly, when assessing the costs, we shouldn’t only ask lobbyists who expect to bill us for their services, as they have an obvious financial conflict of interest. 

A successful J.E.D.I. program was always going to require substantial work, cost money, require new ideas, and require openness to meaningful change. Changing the genetic counselor name would indeed require NSGCs political operation to put in effort, but what is the point of having a political operation if we’re afraid to interface with the political system? If we can’t identify a new name that would propel NSGC’s J.E.D.I program, then it’s not worth the cost and effort. But I strongly support researching a new name further, and politically speaking, if we can’t handle a name change to a state license, then we can’t handle much of anything. And a name change may be easier than Mr. Resta’s charming idea that we convince George Clooney and a major network to launch a TV show about genetic counselors that’s as successful as the Sopranos. 

There’s a lot of tricky questions that arise that aren’t touched on in this piece. A name change would need to be a slow and thoughtfully planned process – staffing, volunteers, timing, budgets, and not to mention the new name itself.  There are likely other costs that haven’t been identified yet. We might not even like the new name, but remember, it’s not for the majority of current genetic counselors – it’s for the future of genetic counseling. 

Misha Rashkin has been a genetic counselor for 10 years. He is a clinician and specializes in oncology. He has a longstanding interest in the ethical and legal issues of genetic testing, particularly the Genetic Information Non-discrimination Act (GINA).

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by | October 26, 2023 · 10:44 PM

Change My Name, Change My Name?

At the recent NSGC Annual Conference, Carla McGruder chaired a sparkling plenary session titled “Say My Name, Say My Name”during which panelists debated the pros and cons of the professional title Genetic Counselor (there was widespread disappointment that Beyoncé did not make a guest appearance). The general sense I got from the debate was that there was enthusiasm for a name change and that a new professional title may ultimately prove to be destiny’s child, but for now no one offered a particularly winning alternative (see below word cloud from the session). Perhaps unsurprisingly, nobody brought up my two biggest long-standing concerns about the genetic counselor title. One is that the oft-used abbreviation of GC for genetic counselor is also the abbreviation used for gonococcus bacteria (though then again it could also more appropriately suggest guanine and cytosine). My other concern is that we should more properly be called genetics counselors; genetic counselor without the “s” at the end of genetic makes it sound like being a counselor is a hereditary condition, the result of some likely pathologic variant. I am pretty sure, too, that lots of genetic counselors in Canada, the UK, Australia, and some other countries would prefer everyone spell it “genetic counsellor.”

Word Cloud for suggested alternative professional titles for genetic counselors, from “Say My Name, Say My Name” panel discussion at the NSGC’s 42nd Annual Conference in Chicago, October 20, 2023. Reproduced with kind permission of session chair Carla McGruder, MS, CGC.

Debate about what to call ourselves has surfaced with some regularity since the profession was birthed a half-century ago at Sarah Lawrence College, and in a journal article by Jehannine Austin and their group at the University of British Columbia, as well as being the subject of two prior DNA Exchange postings, one by my DNA Exchange colleague Allie Janson Hazell and one by me. I suspect that currently the name debate is driven by the profession’s expansion into so many new employment niches, many of which do not involve direct patient care. It may also be influenced by the increasing trend of the profession defining itself – and being defined by other health professionals – in relation to genetic testing.

Let me state my biases up front. I am opposed to a name change, at least until you can show me something better that will justify the very extensive, expensive, and intensive efforts of introducing a new name and eliminating an old one. Of course, my biases are partially driven by being an Old School GC, having graduated in the Late Neolithic Period of genetic counseling, back in 1983. There’s always the attitude of “Damn it, the way I was taught is the right way.” And even if someone comes up with a better job title, I will still likely go to my grave calling myself a genetic counselor. But my personal hang-ups and emotional reactions aside, let’s take a look at some of the pro arguments and why I think they fall short.

One of the pro arguments for a name change centers on lack of public awareness of just what a genetic counselor is or does. Yeah don’t we all know that one! I can’t disagree with this point. But changing our name will not in and of itself improve public awareness or visibility. The alternative names are equally or more ambiguous. Patients will probably react with uncertainty to titles that include the likes of analyst or consultant or specialist (to name just three) and it will do nothing to clarify how we might help and serve them.

While acknowledging the general lack of public knowledge about genetic counselors, we have nonetheless made remarkable progress in increasing awareness of the job title, both with patients and healthcare providers. The below Google Ngram, with all of its limitations, gives a rough idea of how much awareness of genetic counselors has increased since Sheldon Reed christened us in the 1940s, with the ambiguous but reasonably accurate definition of “a kind of genetic social work.” A lot of that progress can get lost if you eliminate the genetic counselor title.

If you really want to improve public awareness, you have to think beyond name changes and PR campaigns. Look at what the Dr. Jennifer Melfi character in The Sopranos did for publicity for therapists. What we need is a successful streaming series about genetic counselors, complete with gratuitous sex and nudity (we can hold off on the violence; there’s more than enough of that to go around in the world these days). I can picture the genetic counseling show’s log line: “Family Lines” – Follow the professional challenges, joys, tragedies, and dilemmas as well as the complicated personal lives of young, attractive, ethnically and gender-diverse genetic counselors as they graduate from their training programs and experience the impact of genetic conditions on their patient’s lives and families as well as on the counselors’ own psyches. Starring George Clooney as the dashing veteran Robert “Bob” Resta whose efforts to guide this gaggle of counselors throughout their careers are undermined by his own very human failings. Consider running the credits over a background of a pedigree being drawn to highlight the commonly used genetic counseling tool and to evoke the name of the show.

Proponents of a name change quite rightly claim that the term “counselor” doesn’t reflect what many genetic counselors actually do in their day-to-day work. Genetic Counselor does not capture the essence of a Variant Analyst, Professional Support Specialist, Product Development Manager, Program Administrator, Researcher, or Medical Science Liaison. But, according to the 2023 NSGC Professional Status Survey, 71% of genetic counselors are involved with full or part-time direct patient care. This suggests that a significant majority of us are actively engaged in genetic counseling on a regular basis, so it makes sense to call us genetic counselors.

Besides, the proposed alternatives capture an even smaller range of what genetic counselors do for a living or otherwise sell our skill set short. For example, one of the suggested alternatives is something along the lines of Genetic or Genomic Information Specialist. It strikes me that the word “Information” misses a critical insight into the human psyche. It isn’t so much the information that’s communicated that is key as it is the way that each person’s mind uniquely interprets that information and integrates it into their lives. this is where counseling skills come in, which, for my money, is what sets the profession apart and makes it uniquely valuable. It gives us a professional identity unlike any other genetics profession or specialty. The value of counseling and communication skills is acknowledged by many genetic counselors employed in non-direct patient care positions, who often claim that their counseling and communication skills have been key in enabling them to expand into their new roles. They are still using basic genetic counseling skills, just in a different context.

Furthermore, I would argue that the very ambiguity inherent in the genetic counseling title is what has allowed us to grow our professional roles. Other professional titles might not provide the flexibility to expand into new and exciting roles. If employers are not exactly sure of what we do, it allows us create new roles that other providers don’t have the knowledge base or skill set to match. As Ed Kloza – who has pretty much witnessed the entire history of the profession first hand – sagely pointed out at the microphone at the “Say My Name, Say My Name” session, the title genetic counselor has gotten us pretty far professionally since the 1970s. Just how has it limited us?

A decidedly practical drawback to changing our professional title lies in the bureaucratic underpinnings necessary to maintain the life of a profession. It’s not just a name that can simply be eliminated by a search-and-replace function. The title Genetic Counselor is written into state licensure laws, pending federal legislation to make genetic counselors recognized Medicare providers in the US, and other countries’ equivalents of licensure. To say nothing of changing job titles by every employer of genetic counselors, the names of a half dozen or so professional organizations, a journal title, and a PubMed search term, to name a few. This could potentially be achieved but you need a very, very compelling reason to expend all that energy, time, and money doing so.

It will be interesting to see what what happens with the job title in countries where the genetic counseling profession is just establishing itself – such as India, the Philippines, and the Middle East. Local circumstances, medical practice, and cultural preferences may wind up generating some very different names and professional practices. But I suspect that they may also want to stick with the genetic counselor title to capitalize on the remarkable progress the profession has made in the US, the UK, Canada, Australia, and elsewhere. The practice and profession may look a bit different around the globe, but they will still be recognizable as genetic counselors and not as something else.

Perhaps too, it is time to reconsider the 2006 standard definition of genetic counseling. While I happen to be a champion of that definition, my professional conflict of interest is that I helped craft it. The current generation of genetic counselors should not necessarily have to rely on a definition created by a previous generation if it no longer captures the essence of genetic counseling. This could have bearing on whether we should choose a new professional title.

For now, though, Genetic Counselor may be a less than perfect name but it is closer to perfect than the proposed alternatives. Give me powerful reasons to think otherwise, and I will change my mind. Until then – Change my name? Nah.

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by | August 2, 2023 · 12:25 PM

Questioning Economic Cost Effectiveness Analysis in Expanded Carrier Testing

What is the economic worth of one person’s life? That question was raised yet again in a recent paper on expanded carrier screening (ECS) that justified an expanded carrier panel based on the cost-savings garnered by avoiding the birth of people with any of 300 mendelian disorders. A quick and likely incomplete literature search revealed other similar publications from around the globe (Azimi et al., 2016; Beauchamp et al., 2018; Busnelli et al. 2022; Clarke, 2021; Wang et al., 2022). NSGC’s Expanded Carrier Screening Guidelines also point to economic gains as one of the benefits of carrier screening. Other professional guidelines and research papers do not discuss the economic benefits of expanded carrier screening, though read carefully, the disability avoidance/cost savings theme is often an undercurrent. To me, economic justifications for ECS raise serious concerns.

The quantification of saved costs over time will help to critically examine the medical necessity of ECS as a proactive health screening strategy. – NSGC Expanded Carrier Screening Guidelines,2023

To be clear, I don’t object to carrier screening per se and a “pan-ethnic” panel can make more sense than an ethnic-focused panel. All patients deserve the right to make complicated and highly situated reproductive decisions and access to genetic testing should be fair and equitable, points which most professional guidelines agree on. My concerns arise from the purported economic benefits of ECS through disability avoidance (I, along with Katie Stoll, have some other concerns about ECS besides economic cost benefit analysis).

But first some historical context.

During medical genetics formative decades in the mid-20th century, the concept of cost-savings by preventing the birth of people with genetic conditions was baked into the field, using ingredients leftover from eugenics. Many leading geneticists at the time preached about the economic and other costs to society of genetic mutations (and by extension, the worth of people who carry such pathologic gene variants), and how it was important to eliminate these pathologic variants to save society money and to preserve the future of humanity itself. While post-World War II geneticists typically disavowed old school eugenics, many of their concerns continued to echo the field’s eugenic origins.

Let me illustrate this history with a notable example. In 1954, the National Academy of Sciences formed a group called The Committees on The Biological Effects of Atomic Radiation (often called The BEAR Committee), six separate committees that were charged with reviewing the available data on the range of biological effects of atomic radiation. A 1960 report from this group detailed the findings from the Committee on Genetic Effects of Atomic Radiation. The genetics committee was comprised of some of the leading brilliant geneticists of the day – George Beadle, Bentley Glass, James Crow, Theodosius Dobzhansky, Herman Muller, James Neel, and Sewall Wright, to name a few. Sewall Wright, in his chapter in the report “On the Appraisal of Genetic Effects of Radiation in Man,” divides humanity into 13 groups, based on intellectual, behavioral, and physical traits. Wright then decides the degree to which each category’s contribution to society is greater or lesser than its cost (as far as I can tell, based on Wright’s opinion and zero data). Some examples of these categories give an idea of their flavor:

1. In the first category, which includes the buIk of the population, there is an approximate balance between contribution and cost, but both at relatively modest levels.

4. In this category are those who cost society much in term of education and standard of living but who contribute much more than the average at their level of cost.

6. We may put here individuals of normal physical and mental capacity whose cost to society outweighs their contribution because of the antisocial character of their efforts: charlatans, political demagogs, criminals, etc.

8. Low mentaIity but not complete helplessness.

10. Mental breakdown after maturity, especially from one of the major psychoses.

Sewall Wright, great statistician that he was, then graphed out these categories in this figure:

People in categories above the dashed midline contributed more to society than they cost, for people in categories close to the midline their cost/benefit was a wash, and people below the midline cost more than they contributed. In Wright’s view (and presumably the view of most of the genetics committee), anybody in Categories 7 or below cost more to society than they were worth. Oddly, those in Categories 5 and 6, were “acceptable” to Wright, even though their cost to society were greater than their contributions. He may have had a soft spot for playboy types, charlatans, and criminals, although he was also unsure of the genetic contribution to these traits .

Wright’s graph did not go unnoticed. Victor McKusick, whose obituary called him “The Father of Medical Genetics,” reproduced Wright’s graph in his 1964 short book Human Genetics, one of the earliest modern medical genetics texts. On page 141 of McKusick’s text, he goes on to say “No one would dispute the desirability and scientific soundness of encouraging reproduction of intelligent persons who are an asset to society.” And it didn’t end there. Cost effectiveness studies continued to be raised to justify the introduction of heterozygote carrier screening and amniocentesis in the 1970s and beyond.

From an ethical perspective, I find it appalling that the cost-savings to society is hailed as a benefit of expanded carrier screening. Do we really measure the worth of a human life by how much money they contribute or cost to society? Isn’t that what people with disabilities, their supporters, their families, and disability scholars have been screaming at us for like a million years? Are we that tone deaf that we can’t hear their shouting? Are we just pretending to hear them or are we simply ignoring them? Isn’t a human being’s worth measured by non-economic factors? Who’s to say whose life is more worthwhile than others or how it should be measured? Why is it that people born with a genetic condition are less valued than people who develop disorders after birth that are even more economically burdensome, like dementia, lung cancer, diabetes, and heart disease (the risks for many of which can be reduced by low cost interventions like improving diet and exercise, and avoiding tobacco and excessive alcohol intake)?

Cost-savings justifications are also incompatible with Diversity, Equity, Inclusiveness, and Justice (DEIJ) initiatives. Money-saving justifications imply that if you are born with a genetic condition and cost society too much money, we are not going to include you. The message is that we support DEIJ for the “right” kind of people, those whose genomes and phenotypes aren’t too costly.

This is the same kind of bad as the rationale offered for sterilization of (mostly) women (and mostly minorities) that continued into the 21st century. Government agencies and individual physicians decided that some people were not fit to be parents and their offspring were an economic drain on society because of “what you pay welfare for these unwanted children.” The almighty dollar can bare the underlying harsh calculus of a society’s ethical norms. Ultimately, a society pays for what it wants to pay for.

From a technical standpoint, many cost-effectiveness studies suffer from some serious flaws. For example, the Beauchamp et al. paper mentioned above includes 176 conditions in their analysis. Realistically, and which the authors acknowledge, there is no way to obtain reliable lifetime costs of all 176 conditions, given the rarity and variable prognosis of most of them. Also, the greatest economic cost benefit comes from the conditions associated with increased likelihood of survival to adulthood and the attendant need for ongoing care, such as Fabry disease, cystic fibrosis, the hemoglobin disorders, and Wilson disease. Adding on dozens and dozens of other uncommon conditions, often associated with early death, does not add much to the economic savings (a point also made in the paper by Azimi et al., cited above).

Cost-savings studies also often make the erroneous assumption that people who have a genetic condition make little or no economic contributions to society. Tell that to all the hard-working adults with Fabry disease, cystic fibrosis, deafness, hemoglobinopathies, etc. Not to mention the many non-economic benefits that any individual – regardless of their genome or phenotype – may “contribute” to society, such as joy, love, friendship, community, artistic creativity, etc.

But you might argue that health resources are limited and saving billions of dollars can’t be ignored, whatever the exact amount. That saved money could go to treating people with genetic conditions. Well, first off, there is no reason to believe that such abstractly saved money would be funneled directly into the care of patients with genetic conditions, or for that matter back into the health care system itself. The theoretically saved money could just as easily wind up funding some legislator’s pet project.

Furthermore, the savings are not quite as impressive as they sound. For arguments sake, let’s accept the estimates of Beauchamp et al. that on average each condition incurs a lifetime cost of $1.1 million (US) and that 290 of every 100,000 pregnancies are affected by one or more of these 176 conditions. Assuming about 3.6 million births in the US each year, that would result in 10,440 children with one of the screened conditions. At a lifetime cost of $1.1 million each, that adds up to ~$11.5 billion in savings over their lifespan (I am making a “best” case but unrealistic assumption that all at risk couples are identified and all affected births are avoided by preimplantation genetic testing, prenatal testing and termination, avoiding reproduction, gamete donation, etc. Cost-effectiveness studies of course don’t make such unrealistic assumptions).

On the other hand, the annual (not lifetime) spending on all health care in the US is $4.3 trillion, per the Center for Medicare & Medicaid Services. The lifetime costs of caring for people with the conditions included in an expanded carrier screening panel is barely a rounding error in annual health care spending in the US. Is the purported savings benefits of expanded carrier screening worth a rounding error, in light of its ethical shortcomings?

Figures 2a and 2b from the Beauchamp et al. reference cited above, illustrating the cost-effectiveness of different carrier screening strategies. Note how the graphs visually evoke the Sewall Wright graph above.

Another justification offered for ECS is the claim that money is saved by shortening the diagnostic odyssey and thus reducing visits to specialists and avoiding unnecessary and inappropriate treatment and testing. Certainly shortening the diagnostic odyssey is a laudable and important goal. However, cost calculations based on that claim are likely to be flawed. We don’t know how many babies born with the screened conditions would experience a diagnostic odyssey, how long the odyssey would take for each condition, and how much unnecessary spending would have been avoided. Nor do we really understand how many children undergo the diagnostic odyssey overall or what percentage of these journeys might be avoided by expanded carrier screening. Besides, the diagnostic odyssey could be more effectively shortened – though by no means eliminated – by expanding newborn screening and/or improving the availability of, and access to, whole genome sequencing, which would allow diagnosis of a much broader range of conditions than those included on carrier screening panels.

A potential and subtle danger of emphasizing the economic benefit of ECS lies in the absurd economics of healthcare that results in the high cost of new and innovative ways of treating genetic disease based on the underlying pathologic variant. Delandistrogene moxeparvovec-rokl (Elevidys), an anti-sense oligonucleotide (ASO) for approved by FDA in June for treating Duchenne muscular dystrophy patients with certain dystrophin variants, is priced at $3.2 million (US). As pointed out by Dan Meadows in this space a few weeks ago, the cost of nusinersen (Spinraza), another ASO, to treat some forms of spinal muscular atrophy, is estimated to cost ~$750,000 (US) the first year and $375,000 per year thereafter. Such high costs of treatment further bolster the belief that treating genetic disease is too costly. Paradoxically, just as at least partially successful treatments are finally becoming available for some genetic conditions, there may be a move to further prevent more births of people with certain genetic conditions in order to save money.

It’s tempting to equate cost-savings with eugenics. However, I think the eugenics label adds nothing to the discussion, other than being an accusation that turns the discussion into an argument. Whether or not it’s eugenic depends on how you define eugenics, and there is no widely agreed on definition. I think it is inaccurate to broadly label medical genetics and genetic counseling as modern day eugenics. Nonetheless, arguments for cost savings and disability prevention betrays the field’s eugenic roots and how we have not fully come to grips with our history. The graphs and table displayed in this post are not exactly the same, but they do share a pedigree. With each generation, the graphs and tables change to reflect their times, but the underlying message remains constant.

Cost of institutionalizion of “Hill Families,” two “dysgenic” families living in the hills of Massachusetts, as reported by the Eugenics Record Office (Table II from The Hill Folk by Florence Danielson and Charles Davenport, Eugenics Memoir No. 1, 1912.). Note the ages at which most of the people were committed.

Medical geneticists and genetic counselors are not an unethical bunch. In fact, I have always been impressed with how much we struggle with complex ethical issues on a daily basis. But our vision can be subtly influenced by our history and by the fact that many – probably most – clinical and laboratory positions rely on the availability of genetic testing. We try to so hard to be good but sometimes it blinds us to the bad we might do. As Devin Shuman so elegantly reminded us in this space last week, the good intentions of our ableist assumptions can do a lot of harm. It’s about time we shed the ethical baggage of economic savings based on avoiding the birth of people with disabilities.

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by | July 26, 2023 · 2:44 PM

Ableist Assumptions:  How GCs Need to Pave the Path to Inclusivity and Fight Against the Harm of “Good Intentions”

by Devin Shuman

This month is the 33rd anniversary of the Americans with Disabilities Act (ADA) being signed into law and so has become Disability Pride Month. Most people started today unaware of either of these events and have likely never seen the Disability Pride Flag before. You won’t likely see companies changing their logo on social media to celebrate their disabled employees and customers. Disability awareness campaigns and sharing “inspirational” disability stories may be a common part of public discourse, but Disability Pride and the history of Disability culture are less commonly discussed. 

The ADA was an important milestone for the rights of people with disabilities. However, disability rights in the US have a much longer history than just the ADA and I encourage everyone reading this to take the time to learn about the larger Disability Rights Movement through resources like the movie CripCamp, the books listed at the end of this post, and by learning about specific events such as the Capitol Crawl or the Mad Pride Parade. The ADA is a moment in Disability history; it was not the end-all solution and disability discrimination and segregation still exists. 

Why do I care about this topic? 

  • Because 1 in 4 of American adults have a disability, making up over 13% of the general population, and it is the only demographic that we all will fall under at some point in our lives. 
  • Because countless barriers have led to an immense health disparity where 1 in 3 adults with a disability do not have a usual healthcare provider and 1 in 3 have unmet health care needs due to the cost of that care. 
  • Because I am a genetic counselor with a genetic disability. I identify as Disabled and work in a profession (genetics) with an entangled history and relationship with eugenics. 

As a genetic counselor (GC), I believe that we GCs are in a unique position to dismantle barriers disabled individuals face and to move healthcare away from the historical medicalized approach to disabilities, which views disabilities as a problem to solve or something to pity. Disability Pride Month is important because disability can be more than a diagnosis, it can be a community, a legacy, and a culture with our own art forms and language use. We have these ingrained assumptions that to be disabled is to be unhappy or isolated. But I am capital-D Disabled because this is my identity; one that brings me joy and connects me to a larger movement. Disabled is not a bad word. It is important to remember this, and to remember that disability conversations are not just relevant to patient care, but also how we interact with our coworkers and students.  

“Disabled people have always existed, whether the word disability is used or not. To me, disability is not a monolith, nor is it a clear-cut binary of disabled and nondisabled… Disability is pain, struggle, brilliance, abundance, and joy. Disability is sociopolitical, cultural, and biological. Being visible and claiming a disabled identity brings risks as much as it brings pride.”

― Alice Wong

In graduate training I was taught about diagnoses from the medical perspective, i.e., defining a condition by its list of symptoms, and this does have an important role in medical training. However, only teaching the medical and social model or with case examples of disability culture (i.e., the Autistic and Deaf communities) gives the false impression that various models of disability are optional lenses to try on or a “special-interest” topic. When we view a positive test result as bad news, we’re defaulting to the tragedy model of disability. When we refer patients to diagnosis-focused foundations or organizations run by parents, we are often ensuring that the charity and inspirational models of disability are the first a patient encounters because that framing of disability is best for fundraising. When we frame a condition or disability as something to fight against (i.e., the epidemic of autism), we are framing someone’s very existence as something to be defeated. We can do better than this. 

I truly believe that the best way to improve how we counsel patients is to improve how we think about disability. Word choice is incredibly important, but just changing how we speak or write, while not changing how we think, means that we will continue to perpetuate outdated and detrimental ideas of disabilities as a problem to be solved. There are some easy changes in word choice we can all apply (see table at the end), but the harder part is checking our own privilege and realizing that we will spend our entire lives unrooting our ingrained biases.

Here are some quick gut-checks for ableist biases:

  • Have you ever seen a diagnosis on a patient chart, or a long list of them, and thought that this patient would likely be “crazy,” difficult, or a hassle?
  • Has your first thought upon seeing a positive test result been about the burden this is going to place on the family or have you started a disclosure with “I’m sorry?”
  • Have you shared “inspiring” videos of disabled people completing normal activities such as playing a sport, graduating school, getting married, or the videos of a kid using a hearing aid for the first time?
  • Have you told someone with a disability that you “get it” because you did a training about their condition, you once had to use a mobility aid after an injury, or you know someone with a similar condition?
  • When a patient doesn’t fit the textbook definition of a condition or does not provide an organized/linear medical or family history – have you considered that they are making it up or shouldn’t be believed due to being a “poor historian?”
  • Have you made the assumption that  all disabled individuals would want a cure, treatment, or therapy (such as those designed to teach disabled people to mask their symptoms)?
  • Do you use disability slurs like stupid, lame, dumb, idiot, blind, deaf, crazy, or insane, such as in reference to a politician you dislike?

As GCs, we can get caught up in excitement over the latest “cool” genetic testing technology available to patients. But, I don’t think we often take the time to pause and think about the implications of what we’re offering and the assumptions these offers make. With ASRM recommending health conditions that should disqualify oocyte donors, are they sending a message of  who is “worthy” of procreating or implying that their offspring wouldn’t be “optimal?” When ACMG recommends carrier screening tiers based on the “severity” of conditions, aren’t we telling Disabled people that their daily life is “impacted enough” to be a potential burden to their families and society? So many individuals who do not have disabilities and organizations decide they can speak for Disabled people and they know what is best for us. Our lives are held up as examples to justify discriminatory medical recommendations and political opinions, under the guise of “good intentions” they hijack the rhetoric of the disabilities right movement. If our voices aren’t included, and if we’re used as examples of reasons why more of us should be prevented from existing, you’re not promoting equity and inclusion. We often discuss disability rights only in the context of prenatal or preconception counseling, but being disabled is far more complex. It intersects with every single aspect of your life, and your relationship with it may change through every stage of your life. Within our current society, even existing in the world as someone disabled can be a radical act. 

I think as a GC, we often want to make things simple and easy for our patients, but we cannot fear the complex and our patients won’t be able to avoid their own complex interactions with society. I’ve seen GCs dodge talking about mental health family history and avoid testing that may result in variants of uncertain significance – and I truly believe this often stems from a preconceived notion that uncertainty is, by default, a burden. If we can’t offer a “cure” or a yes-or-no answer we may get uncomfortable or feel like we’re failing our patients and then assume our patients will also be uncomfortable. However, as someone with a progressive genetic syndrome, my entire life is uncertainty. We all carry thousands of genetic changes and dozens of genetic conditions – and we need to normalize that for our patients. All of our lives are uncertain. We need not shield our patients from this normal part of life based on the belief that genetic uncertainty is exceptionally difficult. We have to be careful that we’re not continuing the collective fiction that genetic testing somehow guarantees a particular predicted future. Just because we have good intentions doesn’t mean our actions do not perpetuate harm.

Providers may warn patients to avoid social media; however that is also where a disability identity and second-family may be found. Providers may not want to “burden” patients with too much information, though who gets to decide what information should be included? We put patient autonomy and informed consent as a top priority, but the medical field also will often restrict the rights of disabled patients, for example from deciding to transfer an embryo with a genetic syndrome during IVF. ASRM recommendations for egg and sperm donors promote both positive and negative eugenics through both private and public decisions. However, this puts an immense weight and emphasis on a test result – do they really give “yes or no” answers or holistic predictions about someone’s future? I think we all know that’s not true, and a genetic diagnosis (or lack thereof) is only one detail of a life being created. All pregnancies and futures are uncertain, that’s one of the joys of parenthood (and life) – very few things can truly be predicted. Our patients deserve the agency of making these decisions for themselves, with their priorities front and center, with information that’s not focused on easing the conversation at that moment or asking for an immediate decision. Our training makes us especially equipped to fight the patronizing approach of doctors knowing “best,” that was the norm in medicine for so long.

We are uniquely positioned to provide validation and support for our patients during the diagnostic odyssey, as we often have time to build those relationships and can be involved in the consent and disclosure process for genetic testing. To maintain our ability to support patients, we need to remind everyone that there is value in time spent with patients and push back against the increased pressure to shorten that time or have patients make decisions based on one-session with a GC. We need to continue to fight for unbiased GCs and to recognize that no decision is made in a bubble and even the best intentions of being non-directive, still exist within an ableist society. We need to remind ourselves that all patient reactions are normal – being overwhelmed, disorganized, confused, stress-free, happy, or proud. Our patients are not less validly disabled if they can work or if they’re on Social Security Disability Insurance (SSDI), if their disability is visible or invisible, if they have a known genetic etiology or not. What is not valid is for GCs to feel we have learned “enough” about disabilities, to approach a patient starting from a position of skepticism, to feel like some disabilities are more legitimate than others, or to think that we aren’t ableist because we may feel like we are more of an ally than other health professions. We are ALL ableist, even those of us who are also Disabled. 

“Navigating ableist situations is like traversing the muckiest mud pit. Ableism runs so deep in our society that most ableists don’t recognize their actions as ableist. They coat ableism in sweetness, then expect applause for their “good” deeds. Attempts to explain the ableism behind the “good deeds” get brushed aside as sensitive, angry, and ungrateful.”

― Haben Girm

One class in our training, one sponsored webinar, one panel at a national conference – none of these are one-stop-shops for retraining our brains to remove entrenched ableism. “We cannot comprehend ableism without grasping its interrelations with heteropatriarchy, white supremacy, colonialism and capitalism.” (Leah Lakshmi Piepzna-Samarasinha) Ableism is intersectional and complex and it will take a lot of time to unpack. I like the garden metaphor for our brain – we can’t always choose what concepts were planted in our minds in the past, it’s not always our fault if weeds flourished when we weren’t looking. However it is our responsibility to take the time to dig out those weeds and to nurture the plants we want to grow. Is weeding out ableism difficult? Yes. Is it sometimes embarrassing to realize what biases have grown in our minds? Yes. Will we spend our entire lives weeding? Probably. But that’s a good thing! When we recognize that we have a lot to learn, that we all are ableist, that this is a never-ending learning process, that is where we find our power to change and our forgiveness for our past self’s ignorance. 

Advocacy is not being silent. Advocacy is having the hard conversations. Advocacy is speaking up about topics that don’t directly affect you in order to take the burden of creating change from those who are directly affected by a policy, institution, or bias. Advocacy is active. Advocacy is continual. Advocacy is humble self-reflection and strives for change.

Related Reading – contains only books I have read, so is not a comprehensive list:  

  • Demystifying Disability: What to know, What to Say, and How to be an Ally by Emily Ladau – A quick easy read
  • Disability Visibility: First-Person Stories from the Twenty-first Century by Alice Wong
  • Care Work: Dreaming Disability Justice by Leah Lakshmi Piepzna-Samarashinha
  • Being Heumann: An Unrepentant Memoir of a Disability Rights Activist by Judith Heumann
  • About Us: Essays from the Disability Series of the New York Times by Jonathan Todd Ross
  • The Boys in the Bunhouse: Servitude and Salvation in the Heartland by Dan Barry
  • Imbeciles: The Supreme Court, American Eugenics, and the Sterilization of Carrier Buck by Adam Cohen
  • What Doesn’t Kill You: A Life with Chronic Illness – Lessons from a Body in Revolt by Tessa Miller
  • Haben: The Deafblind Woman Who Conquered Harvard Law by Haben Girma
  • Ask Me About My Uterus: A Quest to Make Doctors Believe in Women’s Pain by Abby Normal
  • Disfigured: on Fairy Tales, Disability, and Making Space by Amanda Leduc
  • The Future is Disabled: Prophecies, Love Notes, and Mourning Songs by Leah Lakshi Piepzna-Samarashinha
  • Feminist Queer Crip by Alison Kafer
  • We’re Not Broken: Changing the Autism Conversation, by Eric Garcia

GC and Disability related reading (may contain outdated terms and references):

Instead of using:Consider using:
Typical, normalCommon, often, usual, expected, unaffected
Broken, bad, atypical, mutant, defective, impaired, abnormalNot working, non-working, different, unique, variant, affected
Genetic anomalyGenetic variant
Chromosomal abnormalityChromosome variant, condition, aneuploidy/specific change tested for
Risk of a conditionChance of a condition
Patient admits/deniesReports, Does not report
NoncompliantDescribe barriers in access to care
Low functioning autism, high functioning autism, Asperger’s syndromeAutism without an intellectual disability or history of delays, with history social milestones delays, PDD-NOS, autism spectrum disorder
Addiction, Alcoholic, “drug user”Substance use disorder/alcohol use disorder
Birth defect, malformation, deformationStructural congenital condition, be specific if possible
Mental illness/mentally illMental health condition, be specific if possible
Crippled, impaired, mutantUse specific diagnoses instead
Hearing or vision impairment, impaired hearing or vision, blindHearing loss, hard of hearing, low vision, decreased vision
Caregiver, when referring to parents of disabled adultsParent, personal care assistance provided by their parent for *** activities
Retardation, cognitive impairmentIntellectual disability, global developmental delays
Mute, nonverbalSituation dependent speech, does not verbalize, non-speaking
Handicapped, handicapable, dis/ability, disAbility, differently abledDisabled, with a disability
Special education, special needsDisabled, has an IEP/504 plan, receives additional supports in *** subject areas, support needs **
Disability/handicapped bathroom/parkingAccessible bathroom/parking
Wheelchair bound/confinedWheelchair user, uses mobility aids *list them out

*Many of these are context dependent and so it may be okay to use certain words in certain contexts, some may also be  reclaimed or the preferred term by individuals.

Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who has mitochondrial DNA depletion syndrome. On twitter at @DevinShuman.

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by | June 28, 2023 · 12:33 PM

Spinning Disability Into Gold: SMN1 testing and the monetary valuation of life.

by Dan Meadows

Beatrice Adler-Bolton and Artie Vierkant’s debut book Health Communism makes a remarkable case for reimagining the global healthcare landscape. For the genetic counseling field, their case offers an urgently needed approach to patient advocacy.

In 1995, Dr. Judith Melki isolated SMN1, a gene implicated in the rare neurodegenerative condition spinal muscular atrophy (SMA). Dr. Melki also discovered SMN2, an unexpressed near-identical copy of the SMN1 gene that was a promising target for novel therapeutics. Spinraza, the first developed from this discovery, was the product of a collaborative effort financed by orphan drug policies for rare diseases. Consequently, Spinraza was expensive, initially priced at $750,000 for the first year of treatment and $375,000 for subsequent years. The economics of Spinraza’s distribution resulted in slow uptake in both private and universal payer systems, including several national restrictions and one outright denial in its coverage on cost-benefit-grounds. In the interim, two more therapeutics for SMA had been approved: a one-dose gene therapy marketed as Zolgensma that is the single most expensive-per-dose pharmaceutical in the world at $2,125,000, and an oral maintenance medication marketed as Evrysdi that is priced on patient weight with a maximum cost of $340,000 per year.

To quote Nathan Yates, SMA patient and adjunct economics professor at Southern New Hampshire University, “We should not put a price tag on life, though.”

The economic barrier to treatment for patients with SMA speaks to both the wasted utility of pharmacology in personalized medicine and what Beatrice Adler-Bolton and Artie Vierkant call the “vulgar phenomenon” of health in their debut book Health Communism. They argue that how health is defined under capitalism has as much to do with obscuring the architecture of economic systems that underpin it as it does explaining physiological phenomena. In the case of therapeutics for SMA, “personalized” also incorporates an individual’s economic, political, and geographical conditions; in other words, medicine is personalized to a patient’s class, too.

Widely understood as “social determinants of health,” all of the different ways a person’s physiology is shaped by their environment has been naturalized in our healthcare landscape but is not natural. While the World Health Organization (WHO) agrees, stating “this unequal distribution of health-damaging experiences is not in any sense a ‘natural’ phenomenon but is the result of a toxic combination of poor social policies, unfair economic arrangements, and bad politics,” authors Adler-Bolton and Vierkant argue the WHO helped to create the very conditions they now declare as being “more important than health care or lifestyle choices in influencing health.” They ague that because logics of finance and actuarial science built the foundation of our global healthcare landscape and have directly shaped institutions like the WHO, these institutions reproduce a value system that reinforces the idea of healthcare as a commodity that is to be sold on the market, even in countries with so-called universal healthcare. Put plainly, the authors argue that because capital is the central social determinant of health, patients around the world are only entitled to the health they can afford.

The authors explain how our global healthcare landscape was made this way with an analysis of the relationship between the many intersecting threads of medicine and economics. Their analysis coalesces arounda theory of healthcare delivery called Extractive Abandonment that functions primarily as financial extraction of the working class and global south. An intersection of Marta Russell’s “money model of disability” and Ruth Wilson Gilmore’s theory of “organized abandonment” in the US prison system, materially Extractive Abandonment simply concentrates wealth among the ruling class. However, sociologically it fuels the production of narratives around the worker/surplus binary – an iteration of the “eugenic debt burden” of the twentieth century – which aim to naturalize it in our culture. In an American context, it is no coincidence that healthcare’s ties to employment are the product of labor bargaining. In the authors’ words:

“The worker/surplus binary solidifies the idea that our lives under capitalism revolve around our work. Our selves, our worthiness, our entire being and right to live revolve around making our labor power available to the ruling class. The political economy demands that we maintain our health to make our labor power fully available, lest we be marked and doomed as surplus. The surplus is then turned into raw fuel to extract profits, through rehabilitation, medicalization, and the financialization of health. This has not only justified organized state abandonment and enforced the poverty of the poor, sick, elderly, working class, and disabled; it has tied the fundamental idea of the safety and survival of humanity to exploitation.”

There is not a single better explanation as to why three SMA therapeutics can be put on the market for preposterous prices, let alone put on the market at all. To put it simply, the authors quote disability scholar Liat Ben-Moshe: “surplus populations are spun into gold.”

But it does not have to be this way. Adler-Bolton and Vierkant show throughout Health Communism that the extractive economic systems that finance modern healthcare delivery are sociologically obscured but not invisible. With some work – which the authors have graciously started for us – it is possible to reveal these systems for what they are. Only then can they be changed.

Revealing one of these systems in particular, US’ Social Security Disability Insurance (SSDI), offers the genetic counseling field an urgently needed approach to patient advocacy. Adler-Bolton and Vierkant describe SSDI as a biocertification regime in which disabled bodies are not “certified” for care, but rather “de-certified” for work. In order to qualify for SSDI, a person’s disability is quantified in monetary terms with respect to a certifiable labor-limiting diagnosis. Known colloquially as “The Blue Book,” the Social Security Administration’s (SSA) medical guide for disability evaluation is the actuarial document that facilitates this biocertification, and much like the social determinants of health, it has been naturalized when it is anything but.

If the pharmaceutical industry’s drug pricing is the “extractive,” this biocertification regime is the “abandonment.” A decades long neoconservative political project has gutted the American welfare state, and another decades long neoliberal political project has plagued policy with the adverse logics of cost-benefit-analysis. What is left is a disaster worsened across the political spectrum, a fact that is the basis of critical disability studies but largely absent in today’s political imaginary.

The authors offer an important caveat about this biocertification regime, however, one that brings to mind the role genetic counselors play in the diagnosis of genetic disease: “Resisting biocertification does not mean resisting “diagnosis” or identification. It means resisting the leveraging of these certifications by capital and the state.”

Those impacted by SMA, for example, are forced to pay astronomical costs or navigate administrative burden whether they are certified for treatment through economic means or their bodies de-certified for work by the state. In either circumstance a genetic test is going to be involved, one that may even incur its own monetary cost.

It is worth noting that these genetic testing options, much like the SMA pharmaceuticals discussed earlier, are miraculous. The ability to accurately identify genetic disease is an invaluable resource and as Adler-Bolton and Vierkant say it should not be resisted. However, genetic testing plays a straightforward role as a prerequisite for therapeutics or care, and is as such complicit in reinforcing the monetary valuation of life.

This says nothing of the quality care provided by the genetic counselor who facilitates the discussion around the ordering of the genetic test, the precision of the biotechnology and bioinformatics that perform it, nor the careful review of the analysts who classify a result. These are integral aspects of our healthcare infrastructure. What it speaks to is how the process is leveraged by the pharmaceutical companies described earlier, and by the state. When aspects of health inequity are described as being “institutionalized,” this is what is meant.

As genetic counselors, we’re often a first touch point for individuals affected by genetic disease, and facilitate triaging to other medical specialties and care resources. What Adler-Bolton and Vierkant make clear in Health Communism is that the priorities of the systems and institutions in this triaging process are extractive in nature. So if our aim as clinicians is to improve the quality of life experienced by individuals affected by genetic disease, then we must first acknowledge these systems for what they are.

While the monetary extraction by the pharmaceutical industry is blatantly obvious, the abandonment by the state is more subtle, and is marked by indifference. It involves significant administrative burden to provide poverty-wage benefits. To explain, let’s look at the SSDI determination for individuals affected by SMA. While according to Social Security Ruling (SSR) 16-4p: Titles II and XVI, “With the sole exception of non-mosaic Down syndrome, genetic test results alone are not sufficient to make a disability determination or decision,” they are central to the determination process. For example, the “Suggested Medical Evidence of Record (MER) for Evaluation” policy for disability determination of someone with SMA is molecular genetic testing of SMA1, a misspelling of the SMN1 gene. It is both baffling to think this misspelling persists through document reviews and infuriating to consider whether it has led to an SMA patient’s SSDI from ever being denied and further administrative burden.

This is the true face of the system genetic counselors can provide to people who are suffering. It is an embarrassment. There is not a single better explanation as to why an SSA document could have such an egregious error than what Adler-Bolton and Vierkant present in Health Communism.

What does this mean? It means as genetic counselors we have work to do, work we were already scheduled for. The Accreditation Counsel for Genetic Counseling (ACGC)’s nineteenth practiced based competency asks that genetic counselors advocate for individuals, families, communities, and the genetic counseling profession. The twenty second practice-based competency asks that genetic counselors recognize their role in the larger healthcare system.

Our field has a serious problem, and it is about time we recognize it. One way we can start is by asking hard questions. Here is one that I have: How does an emphasis on patient choice regarding testing – an aspect of the genetic counseling delivery model built around the medical ethical principle of autonomy to create distance from a eugenic past – reinforce the logic of healthcare as a commodity to be sold in the private market?

Dan Meadows is a genetic counselor and competitive cyclist based out of Fort Collins, Colorado. He can be reached at danmeadows@pm.me

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by | June 21, 2023 · 9:57 AM

Dangerous “Allyship”: Capitalizing on others’ oppression

by Kimberly Zayhowski, Helen Kim, and Liann Jimmons

            As we are reminded by the National Society of Genetic Counselors’ Professional Status Survey each year, the genetic counseling field remains notoriously homogenous. With the Black Lives Matter and Stop Asian Hate movements and a growing consciousness of social justice matters, many with privileged identities are coming to appreciate the extent of oppression such as racism, sexism, ableism, transphobia and homophobia in our society. A focus on diversity, equity, inclusion, and justice (DEIJ) has been highlighted in NSGC’s initiatives in recent years. This surge in DEIJ work gives us optimism. At the same time, it’s important that allies are diligent at monitoring their own motivations to not become opportunistic “allies” who capitalize on DEIJ work to bolster their social capital and CVs. In many spaces, false allies are proceeding with DEIJ work as a grant-funded trend while actually harming the communities they are supposed to be serving. When people focus their effort into having others view them as “allies,” they may obscure their complicity. In this piece, we outline some of these problems and offer an opportunity for constructive reflection so that we can all work towards something genuine.

“Equity tourists”: Boosting resumes, harming communities

Nascent in their journeys in DEIJ, there are a number of ways well-meaning allies contribute to the erasure of community members. DEIJ work can be another way white, non-disabled, straight, and/or cisgender folks colonize marginalized spaces. Columbusing behavior, or “discovering” something that is not new, is a symptom of internalized white supremacy. Even if someone has “found” new knowledge about a marginalized community, that fascination can easily turn into fetishization. Without the context and rigor of lived experience, the understanding of these social dynamics can only remain superficial. Work that lingers at contemplation, theorization for the sake of it, and reiteration of known problems without real solutions remains ineffective. With this, non-community members become viewed as “experts” and hold authority on topics on which they only have an academic understanding. It leads to the hoarding of diversity-related positions or projects and gaining visibility, recognition, and financial compensation for said work. Academic work without community involvement or benefit becomes a means to an end, another way of objectifying minoritized people’s struggles. Internalized white supremacy is insidious in nature and requires constant checks and balances. Power is being siphoned away from minoritized scholars in their own communities as opportunities are lost to outsiders who have better connections and systemic privilege.

Communities need respect and dignity, not “allies” who profit off of their oppression. While non-community members may be well-meaning and spurred by their new understanding of racism, transphobia, ableism, and/or homophobia, pursuing work in these areas without the leadership of marginalized community members can become disingenuous and opportunistic. For example, one survey found that ~76% of chief diversity officers are white, while ~4% are Black, ~8% are Latino or Hispanic, and ~8% are Asian. Organizations continue to hire workers who have little or no experience to execute DEIJ missions. Putting non-community members in positions of power related to diversity work is underhanded and waters down what work can actually be done. Without community engagement, even the most well-intended non-community member will miss key information and insight that is pertinent to drive change.

Proximity does not equal identity. Authorship does not equal embodiment. It is imperative that allies who are working in DEIJ spaces cite, partner with, and support scholars from minoritized communities to take the lead on DEIJ initiatives. It is both true that allies can do meaningful DEIJ work AND that we need to be critical when leaders in these spaces are promoting themselves as experts on identities and experiences that are not theirs.

The difference between supporting and exploiting

The people who receive the most publicity are often those with the loudest voices, but they are not always the necessary voices. It can be easy to make the excuse that you cannot find a community member to lead an effort. However, if you are truly invested in making a difference and supporting historically marginalized communities, you need to put more effort into finding a voice to amplify louder than your own. People with privileged identities need to step up in ways that uplift not overtake. It is true that allies have opened doors in meaningful, necessary ways, but it’s imperative that we all recognize when to transfer the power back. Open the door and hold it open for someone else to walk through.

So where is the line? How do we recruit without tokenizing, how do we include without exploiting, and how do we take action without colonizing opportunities? Some critical questions for allies who aim to empower (not overpower) minoritized communities to consider when engaging with DEIJ work:

Presentations: Are you the right person to give this presentation? Do you know of a community member you can recommend for the presentation instead? Can you advocate for pay for DEIJ-related presentations? If you take on a presentation, should you bring in a co-presenter? Are you in a position where you could mentor someone with needed perspectives who has less presentation experience?

Research: How do you position yourself in relation to the research question? How do your identities impact decisions made throughout the project? Are the goals of the project in line with community-expressed needs? Do you have diversity on your team, including folks with lived experiences relevant to the project? Are your community consultants worthy of authorships instead of acknowledgments?

Leadership roles: Are you the best person for this position? Is your perspective already represented in this space? Is the selection process inclusive? Can you use your privilege to elevate another candidate instead and support the project or institution in an alternate way?

Overall: Take some time to understand all of your incentives and motivations behind doing this work. Share them with friends, colleagues, and mentors you trust to tell you when you’re in the wrong. Find opportunities to be vulnerable and solicit feedback. Spend a lot of time in this phase of your work before jumping in recklessly. Be in community with folks able to give you iterative feedback and commit to this process. Are there other perspectives you should be bringing in? Is your work transactional? What are your intentions? Are you only involved in anti-oppression work that results in additions to your CV? Do your intentions align with the impact? Is your work being done to drive change or just to make you feel better about yourself?

All in all, while allies must do the legwork on tackling DEIJ issues, we emphasize leg. While minoritized folks should lead changes that affect their communities, they cannot continue to shoulder the entire weight of this work by themselves. Whenever possible, community members must be at the head of the efforts, and allies need to examine how they can redistribute their power. We highlight the needs for collaboration with community members and accountability at all levels to ensure that our actions and impact are in line with our intentions. As individuals, institutions, and systems, we need to scrutinize the impact of our actions on communities, develop our awareness to see beyond ourselves, and dedicate ourselves to doing better.

Note: This is a call to engage in honest self-reflection about our motivations as individuals, not a call to persecute our colleagues. We feel strongly that people should not have to publicly disclose personal aspects of their identities while doing DEIJ-related work. We also recognize many identities are fluid and can change over time. Engaging in DEIJ work requires us to honor the trust that our colleagues give to us. 

Authors

Kimberly Zayhowski, MS, CGC (she/her) works as an assistant professor and research genetic counselor in Boston, MA. Her views are informed by her queer and multiracial identities.

Helen Kim, MA, MS, CGC (she/her) is a chronically ill and queer genetic counselor. She is an educator and public engagement associate working to foster conversations around ethical and societal implications of genetic technologies with minoritized communities in Los Angeles, CA.

Liann Jimmons, MS, CGC (she/they) is a genetic counselor and, more importantly, an advocate for genomic justice. She works in public health doing outreach, education, and clinical services for underserved communities in Honolulu, HI.

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by | June 14, 2023 · 12:14 PM

Guest Post: Polygenic Scores: A Demand To Laboratories For Greater Transparency, Validation, and Inclusivity

Polygenic scores (PGS), sometimes referred to as polygenic risk scores (PRS), are a developing risk estimate tool used to determine personalized risk for complex conditions that are influenced by both genetics and environment, such as breast cancer. Historically, utilization of PGS in genetic testing has been discriminatory and inequitable across various ancestries, which likely exacerbates racial inequities. While genetic ancestry is biologically based, it can correlate with race (a social construct); therefore, inequities in ancestry-based data add to racial health care disparities. Until 2021, PGS for breast cancer was only available to cisgender women of self-reported European ancestry due to a lack of sufficient GWAS data to identify relevant SNPs among other populations. Events of 2020, including the murder of George Floyd, sparked the country’s short-term widespread awareness of, and engagement in, addressing racial inequality. The country’s reaction, combined with increasing pressure from many individuals in the genetics field concerning the racial inequality of PGS, resulted in some changes in reporting practices of PGS. Laboratories who previously offered this testing updated their test menus; some removed PGS testing, while other laboratories released updated versions. 

Despite modifications, it has been demonstrated that PGS are still not equitable across ancestries. As genetics providers, we require transparency in marketing materials, equal discriminatory power across all populations, and demonstration by genetic testing laboratories of true commitment to reduction of healthcare disparities before use of PGS can be considered equitable and able to be used across ancestries. 

 In November of 2022, Hughes et al. published an updated PGS for breast cancer they call “multiple-ancestry polygenic risk score” or “MA-PRS”. The authors developed a breast cancer risk assessment with greater accuracy for cisgender women of non-European ancestry by adjusting the weight given to each single nucleotide polymorphism (SNP). This MA-PRS uses 56 ancestry-informative SNP markers to determine the patient’s proportion of African, East Asian, and European ancestry. It then weighs the 92 previously identified breast cancer-associated SNPs based on the relative proportion of each ancestry. 

While we acknowledge that this methodology does improve the performance of PGS in the non-European population, MA-PRS still does not perform equally across ancestral populations and therefore remains discriminatory. In particular, based on Table 2 of Hughes et al., MA-PRS does not delineate between low and high-risk scores as well for individuals who are Black/African as compared to the other ancestral categories studied. Furthermore, utilizing only three SNP-informed ancestral categories likely fails to represent many Americans. 

The National Society of Genetic Counselors (NSGC) and Wand et al. have recently published a Practice Resource on PGS which argues that “equitable access to polygenic scores is threatened by differential test performance across populations, differential capacities to support population-wide delivery of genetic services, and differential resources for [PGS] education or uptake of information in a population.” Similarly, there is a new statement on clinical application of PGS published by The American College of Medical Genetics and Genomics (ACMG) and Abu-El-Haija et al., which includes the need to “improve available data sets for populations with non-European ancestry and optimize analytic methods [of PGS] so that genomic risk can be accurately and equitably identified across all human populations.” While the MA-PRS attempts to ameliorate some of these disparities, we argue that significant barriers to equal access remain.

In addition to these concerns regarding equity and access barriers related to the MA-PRS, there remains a significant question regarding the clinical utility of PGS. Currently, the National Comprehensive Cancer Network (NCCN) guidelines expressly counsel against using PGS results for clinical decision-making due to a lack of proven clinical validity. Therefore, insurance coverage for any medical management based on an elevated PGS score is highly in question. Similarly, the NSGC Practice Resource states, “clinical utility of [PGS] remains largely hypothetical, with increasing research evaluating clinical outcomes.” Furthermore, “genetic counseling about [PGS] should be framed in the broader context….[PGS] often does not capture all genetic risk.”  

Considering the remaining disparity in clinical validity among populations, the complexity of PGS results interpretation, the lack of demonstrated clinical utility, and the potential lack of insurance coverage, we argue that significant work from the genetics community is still needed in order for PGS to truly be equitable and clinically useful. We acknowledge that MA-PRS are a first step towards that goal, but additional improvements need to continue. 

As laboratories continue to improve or develop PGS, we ask for the following:

  1. Transparency by genetic testing laboratories offering PGS.
  • Is this PGS performing equitably across ancestries? If marketed towards diverse patient use but without actual equal performance this could be misleading at best, and potentially harmful to patients at worst.
    • Is there clinical utility currently for this PGS? Providers should not be told that PGS will help with clinical management and qualifying for high-risk cancer screenings so long as NCCN and other governing bodies recommend against such.
  • Validation and equal power across all populations.
  • Who can use this PGS? Given the development of PGS for use in non-European populations, there should not be movement backward. All future PGS options should be available and validated in diverse populations.
    • How well does this PGS perform in diverse populations? There should be equal power and validation across all ancestral groups; it should not perform better or worse for one group over another. 
  • Demonstration of true commitment to inclusion and equity for patients by addressing underlying barriers. 
  • What research and data is this PGS based on? Eighty-four percent  of GWAS participants in cancer risk studies are of European ancestry. This GWAS data has been the foundation of all genetic testing (including PGS). We encourage researchers to foster a culture of transparency and trust with underrepresented populations with goals of obtaining ancestrally diverse representative data. Therefore, allowing for development of wholly new PGS and mitigating the need to reanalyze the currently available and ancestrally limited data.
    • What relationships are involved? Who are the collaborators? Bias exists in many areas of medicine; limiting that bias should be done whenever possible. Collaboration with and funding for groups specifically focused on diverse experiences, such as patient advisory boards and community-based participatory research projects, should be prioritized. 
    • How are other barriers or health disparities being addressed by laboratories offering PGS? Health disparities in genetics, such as access to genetic counselors or germline testing and higher rates of variants of uncertain significance for patients who are from underrepresented populations, already exist. As mentioned, although race is a social construct, disparities of testing and healthcare based on ancestry further exacerbate racial inequities. True commitment to inclusion and equity does not stop at PGS. Rather, it is necessary to address across all areas of genetics and throughout other health care specialties.

If you agree, join us and please sign this petition to register your support for transparency, validation across populations, and true commitment to inclusion and equity from PGS producing laboratories. These are the opinions of the individuals listed below, and not their institutions. 

[alphabetical order] 

Fatima Amir, MS, CGC

Suzy Cahn, MMSc, CGC

Tiffiney Carter, MS, CGC

Hayley Cassingham, MS, CGC

Katie Church, MS, CGC

Jeanne Devine, MS, CGC

Jennifer Eichmeyer, MS, CGC

Lauren Gima, MS, CGC

Helen Kim, MA, MS, CGC

Katie Lang, MS, CGC

Heewon Lee, MS, CGC

Kelsie McVeety, MS, LCGC

Jessica Scott, MS, CGC

Stephanie Spaulding, MGC, CGC

Melissa Truelson, MS, LCGC

Natalie Vriesen, MS, CGC

Kristin Zelley, MS, LCGC

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by | June 6, 2023 · 9:33 AM

Eulogy for a clinic

by Jehannine Austin

My professional life up till this point has been centered around a mission to bring genetic counseling to people who – like me – live with psychiatric conditions, and their families. This has been my mission for >20 years, since my family started asking me about whether psychiatric conditions were genetic and what this meant for us while I was doing my PhD on this topic. Realizing that it wasn’t just my family that had these questions and that no-one was really addressing them is what drove me to train as a genetic counselor. Once I completed my genetic counseling training in 2003, no one would hire me to provide genetic counseling for families with psychiatric conditions. Of course, psychiatric conditions have always been profoundly disenfranchised in terms of health services, but as well, there was no evidence that people with psychiatric conditions wanted genetic counseling, and no evidence that it could help. So, this drove me into research. 

I landed a research professorship and my team and I generated data showing that: 

  1. people with psychiatric conditions wanted access to genetic counseling 
  2. genetic counseling helps people with psychiatric conditions 

In 2012, on the strength of these data, we established the Adapt clinic – the world’s first specialist psychiatric genetic counseling clinic. It was all about helping people understand the factors that contribute to developing a psychiatric condition, and how to use this understanding to engage in self-management strategies to protect their mental health for the future. It was about helping people to make meaning, and understand that psychiatric illness is not your fault, and not your fate. 

In 2023, after 11 years of helping patients, training students, generating research data about the impact of what we do, and providing a model for psychiatric genetic counseling services around the world, our service is being closed.

I’ve fought this with everything I have because it feels so wrong. But I’m so bone tired …and there’s literally nothing more I can do. It’s over.

No amount of data demonstrating the awesome outcomes that patients experience (increases in empowerment, changes in behavior to engage in self-management strategies to protect their mental health) after receiving our services has swayed the decision. So, this is a eulogy.

The webpage for the clinic has silently ceased to exist. 

The reason given for the death of the Adapt clinic? To redeploy the counselors to provide service for general genetics patients because the waitlist there is so long. It’s apparently that simple. And pointing out that this is classic disenfranchisement of people with psychiatric conditions – again, people like me – has made no impact. I may as well be speaking to a wall. 

Now, as someone who has served as a leader myself in a publicly funded healthcare setting, I do of course understand that we are forced to make decisions about how to allocate scant resources. And sometimes people might not like the choices we make. I understand that. My objection is that the Adapt clinic embodies (has embodied) all of the principles and values claimed to be held dear by the healthcare system that is closing it. That is what I find distressing.

Initially, when I saw the writing on the wall that the clinic would be closed, I was devastated- this was my life’s work, I thought. And it’s been for nothing, my internal voice said…I am a failure. I lost all energy to continue in my efforts to leave things better in the world than I had found them. Because, what is the point? I – and the counselors within it – gave the Adapt clinic everything we had, it was demonstrably successful, and yet it is still being closed….it felt like it was all for nothing.

But this narrative is wrong. I can see that I am not a failure, and that the clinic was not a failure. Instead, the clinic, and the counselors within it, and the patients we serve, have all been failed by the system we are in. 

Our efforts were not for nothing. The Adapt clinic has helped about 1400 patients and trained over 50 students, some focused on clinical skills, some focused on research skills, and some both. We published about 20 papers that are out there in the world that explain the difference that psychiatric genetic counseling can make for people, and how to do it well. I know that we have inspired practicing genetic counselors around the world as well as students…we have inspired people to train in this discipline. I know this because people have been gracious enough to tell me about how our work has affected them.

Given all this, you have to ask, why is the clinic dead?  I think there are two real answers to that. First, psychiatric conditions are still so stigmatized. People with mental illness – like me – have a long and awful history of being disenfranchised, and here we see it again: an evidence-based service for people with psychiatric conditions cut, despite data showing that it’s needed and it helps. And yet it’s cut so that we can prioritize providing services for people with non-psychiatric indications. 

Second, the genetic counseling services we provide for people with psychiatric conditions typically don’t involve genetic testing. And though the service helps people, the health system decision-makers don’t value genetic counseling when there’s no genetic testing being done. The psychotherapeutic work we do is not valued …which is truly the hardest thing for me to swallow, because data show that it’s exactly this that makes the difference even when genetic testing *is* available. It’s the counseling that helps people. 

So, yes, this is a eulogy — a public expression of pain and grief and disillusionment about the death of a clinic whose establishment was the culmination of >10 years of my work, that we nurtured successfully for 11 years, and that brought purpose to my life and a way to channel my own experience of psychiatric illness to help others. It’s so hard to build and create something new and innovative, and so very easy to destroy it. It does feel like a death. 

My biggest fear is that others will stop trying to establish psychiatric genetic counseling clinics in other jurisdictions as a result of this. People – like me- who have psychiatric conditions deserve better than this. So please keep pushing. Others have taken up the mantle – there’s a clinic in Cardiff, and Tennessee, and others (if you know of others, please tell me!)… I’m rooting for all of you. Please let me know how I can help. 

But I think this reflects broader issues too – I think as a profession, we have to answer some questions for ourselves. Are we happy with being reduced to roles as the purveyors of genetic testing? And only post-test counseling at that? This is the direction in which we are headed. Medical genetics departments with long and growing waitlists often respond by simply reducing the list of indications to make fewer people eligible to access genetics services.  That’s exactly what happened to the Adapt clinic — the eligibility criteria for access to genetics services shrank to exclude our patients. What happens to these patients? It’s not that they get service elsewhere – they don’t. The people who make these decisions are deciding who gets care — deciding who matters. This is an issue that relates to equity and justice. 

In writing this eulogy for the clinic that I created and loved, my purpose is to try to use its death for something positive. Given our increasing focus on the importance of EDI issues, I would like to suggest that this is an opportunity to question whether tertiary-care clinical genetics is the right location for genetic counselors if we are to be able to provide just and equitable access to our services for people who need them. Situating genetic counseling services in alternative locations, such as primary care/family practice, might be worth considering as a way to ensure our ability to practice to the top of our scope, to offer more than just genetic testing (like psychiatric genetic counseling), and to ensure more equitable access for patients. 

I hope that the end of Adapt can be used as an impetus for the start of something new. If the Adapt clinic has impacted you in some way, those of us who nurtured it would love to hear about it in the replies, or by message. 

Some of my fave quotes from people who had psychiatric genetic counseling in the Adapt clinic (from Semaka et al 2019):

“Until genetic counseling, no one ever coherently explained to me why I have a mental illness. And I think that’s a conversation that needs to be had because most people just think they’re having a bad time of it or they just think that they just need to try harder”

“I felt in control, you know [psychiatric genetic counseling] made me feel more empowered than I did when I walked in and I think for me that’s a big deal… I just felt after the appointment I had more tools to control my life.”

“[Psychiatric genetic counseling] gets rid of some of the shame…. with mental illness, it’s so hard to know what you did wrong but really you didn’t do anything wrong and [psychiatric genetic counseling] just explains that to you… so you’re able to look at this and think, ‘OK, this isn’t my fault’”. 

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