All For BRCA, BRCA For All?

Should all women undergo BRCA testing? This question has been an item for discussion once it was given the authoritative weight of Mary-Claire King, the widely respected genetics researcher who has made invaluable contributions to the discovery and elucidation of the BRCA genes. The appeal is clear. Under current protocols, many women at increased risk of carrying a pathogenic variant are not undergoing BRCA testing. It breaks my heart each time I meet with a 40 year old mother of young children who was just diagnosed with a preventible serous epithelial ovarian cancer or a triple negative breast cancer. Furthermore, a significant number of pathogenic variant carriers are missed by just about every set of testing guidelines. Not only that, guidelines are so complex, evolving, and variable that no one can keep track of them any more, except maybe the unsung  heroes among the support staff at commercial laboratories who are tasked with verifying insurance coverage for genetic testing all day every day. I half-jokingly tell my oncology colleagues at tumor boards that my new criteria for genetic testing are are simple: 1) Does the patient have cancer? 2) Does the patient have genes?

I understand the appeal of population BRCA screening. Risk mitigation strategies and enhanced screening have the potential to reduce morbidity and mortality, or, more simply put, it could reduce suffering and saves lives. This benefit looms particularly large in the face of that sly and nasty devil, fallopian tube/ovarian cancer. But the benefits – and I don’t mean to diminish them – can lead us to subconsciously overstate upsides and downplay downsides. As Guido Calabresi and Philip Bobbitt pointed out more than 40 years ago, allocating medical care is full of tragic choices, i.e., no matter what course of action we choose, some people will suffer and some people will benefit. The hard part is deciding who should benefit and who should suffer. Let me be clear, though, that if BRCA population screening were to be implemented, I hope that my concerns prove to be unfounded or are addressed up front.

So what are my worries? First off, I am not convinced that population BRCA screening is high on the list of public health priorities in the US. It doesn’t make the CDC’s list of pressing public health initiatives. About 100 million Americans are affected with one or more neurological diseases. According to the USDA, in 2018 about 37 million Americans lived in food-insecure households, including 6 million children. Eight hundred thousand Americans will have a stroke this year. Half a million Americans struggle with homelessness. About 380,000 children are born prematurelyForty thousand people die from a gun shot each year.

In comparison, my back of the napkin calculations suggest that of the approximately 42,000 breast cancer deaths and 14,000 ovarian cancer deaths in the US each year, roughly  5% of breast cancer patients and 15-20% of ovarian cancer patients carry a BRCA mutation (I am not including other high risk breast cancer related genes such as PALB2 and TP53, but their inclusion would not substantively change the calculations). This would amount to theoretically saving about 5000 lives annually. This rough estimate is based on the very unlikely assumptions of full population participation in both genetic testing and follow up cancer screening and risk reducing strategies, and that these strategies save lives. While the evidence is pretty good that risk-reducing saplingo-oophorectomy reduces ovarian cancer mortality in unaffected BRCA mutation carriers, the mortality/morbidity reduction benefit of combined mammography and breast MRI is less well established. Risk-reducing mastectomy significantly reduces breast cancer risk and disease and treatment morbidity but the mortality reduction is not as great as one would hope, especially as a woman gets older. And many healthy BRCA pathogenic variant carriers delay or decline mastectomy. At most, about half of unaffected BRCA pathogenic variant carriers undergo risk-reducing mastectomy.

Would the resources devoted to  saving lives through population BRCA screening justify a reduction in allocation of resources to other far more common health problems or disparities within cancer care itself, such as racial and economic differences in access to care, morbidity, and mortality? Of course, numbers are not the only deciding factor for resource allocation, which is ultimately an ethical decision that society arrives at in a somewhat unpredictable and disorganized fashion. On the other hand, those numbers cannot be ignored. Population BRCA screening may prove to be cost-effective but that does not necessarily mean it would be the best use of limited health care dollars and resources. It is not exactly a zero sum game, but no matter how you slice and dice it, all health care problems cannot be covered with even the most generous allocation of resources. Eliminating the hundreds of billions of wasted health care dollars in the US might start to address resource limitations, but, realistically, drastic reductions in unnecessary spending are not likely to happen any time in the near future nor is it guaranteed that the saved dollars would be reapportioned to other areas of health care. Which lives “deserve” to be saved and which diseases “deserve” to be prevented? Tragic choices, indeed.

Then too there is the problem of health insurance, or, more precisely, the lack of it. BRCA testing on a population scale would presumably lower the cost of genetic analysis to affordable levels and labs would likely absorb the costs of those who can’t pay (or at least would figure it into their pricing). However, it is in the follow up of mutation carriers where the annual costs start to pile up. Annual mammography and breast MRI, mastectomy, reconstructive surgery, and salpingo-oophorectomy would not likely be available to the ~14% of the US population who lack health insurance, with even higher rates of non-insurance among young women, the very population who theoretically would benefit the most from BRCA testing. Yes, the cost of treating those women for cancer is much greater than the cost of screening and risk-reducing surgery, but if the women do not have the financial wherewithal to pay for surgery and screening then those interventions just aren’t going to happen. Before we even think too hard about implementing population BRCA screening, the national health insurance crisis must first be addressed. BRCA screening could unintentionally result in further health disparities for low income women.

Even among women identified at high risk of developing breast cancer and who have health insurance, uptake of MRI screening is low even in facilities where MRI screening is available, with some demographic variability in uptake. Thus, innovative efforts are needed to improve outreach, education, and motivation to participate in semi-annual screening that would likely last for decades. In addition, if population BRCA screening becomes a reality, more MRI machines will need to be purchased, more radiologists will need training if they don’t routinely read breast MRI images, and more surgeons will be needed to perform mastectomy and reconstruction. A commitment to BRCA screening requires a lot more resources than just increasing the availability of genetic testing.

I admit that I am a professional worrier, and maybe all of my concerns are just another expression of my character flaws. No doubt many of the Good Readers of The DNA Exchange will have strong differences of opinion with me. I want to save lives and avoid cancer treatments just as much as the next person, and maybe even more so than many others after having spent two plus decades watching women and their families go through the nasty physical and existentially threatening experience of chemotherapy, disfiguring surgery, radiation therapy, and dying all too young. On the other hand, there are many more people suffering from other serious and potentially preventible health problems. Are they less worthy? Tragic choices are so…..tragic.

 

” And tell me how does God choose,

Whose prayers does he refuse?”

– Tom Waits, “The Day After Tomorrow”

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Vocab Rehab

Our word choices in speech and writing are often reflexive rather than reflective. Some words become so engrained into our vocabulary that we use them out of habit rather than after careful consideration. We think we are communicating clearly because everybody “knows” what a particular word means so we don’t pause to consider what the word might really mean or suggest. This can be particularly true of professional vocabulary, wherein we are inculcated with a set of specialized terms and word choices early in our training that are later reinforced throughout our careers by journal articles, books, and at educational meetings.

Even the rhythm and meter of spoken language can silently work their way into professional oral presentations. The next time you attend a multi-day conference pay attention to how the speakers at the end of the conference may unconsciously repeat the speech patterns of the speakers from the previous days. I first noticed this phenomenon about 10 years ago at an annual genetic counseling education conference during which a few speakers at the beginning of the conference frequently used a high-rising terminal (i.e., a rise in pitch at the end of a sentence). By the last day of the meeting it seemed like every speaker was raising their pitch at the end of too many sentences and it was starting to drive me crazy (I’ve since adapted). The “right” way to speak or write is the one that we encounter most often and most recently by respected members of our professional and social circles.

Reflexive vocabulary usage can sometimes mislead or confuse. Let me offer two examples of  vocabulary used by – but not unique to – the medical genetics community that in my view need some reconsidering and revision: whole exome/genome sequencing and gender neutral pronouns (for related discussions, see my prior postings about the words “psychosocial.” and “mutation“).

Whole Genome/Whole Exome Sequencing – These are inaccurate and misleading terms. The descriptor “whole” suggests that the entire genome or the entire exome is being sequenced. In fact, the analysis usually includes a lot of the genome or a lot of the exome – but not the entirety of either.  They don’t quite go the whole nine yards. The limits of some “whole” techniques and platforms become even more salient when you understand that they may not reliably detect some of the most common DNA-based disorders such as Down syndrome, fragile X syndrome, and alpha-thalassemia. I suggest that we drop the word “whole” and simply call it genome sequencing or exome sequencing, a practice I’ve already seen in some journal articles. But it should include a descriptor that indicates which technology was used to sequence the genome – short read, long read, optical mapping, etc. Each has its strengths and limitations and knowing which technique was used informs us as to which conditions are reliably or unreliably detected.

Incidentally, genome was coined (as genom) in 1920 by the German botanist Hans Winkler. Until the discovery that most DNA was non-coding, the word genome implied the sum of an organism’s genes. Now that we know that only a smidgen of an organism’s DNA are genes as we understand them today, the 20th century sense of genome does not align with the current sense of genome that refers to the entirety of an organism’s coding and non-coding DNA. Exome, on the other hand,  arose out of 21st century technology. The earliest article I could find in PubMed that used exome in it’s title or abstract was a 2008 publication about J. Craig Venter’s exome (Venter was the senior author).

Gender Neutral Pronouns and Verb Agreement – I wholeheartedly support the use of gender neutral or third gender pronouns in English, even if I think a few of them like zie, zir, and ver will not likely catch on. The vagaries of language evolution could ultimately prove me wrong but no matter how conscientious and respectful you try to be, these neologisms entail learning new words that have no clear etymology to guide the user or listener as to their meaning. However, pronouns such as “they” or “them” as a singular subjective or objective pronoun or “their” as a singular possessive pronoun have gained more linguistic traction. These pronouns have historical usage as a a singular form. Take the sentence I wonder who left their mobile phone on their seat in the auditorium? Whoever it is, they are not going to be happy when they realize it. “They” is a pronoun substitute for the singular “that person.” This sentence would have been perfectly clear and acceptable in just about all English dialects well before gender neutral pronouns became a subject of debate and discussion. Further, “they” and “them” do not have a linguistic history of denoting a specific gender.

My question, though, is not about which pronouns will survive the test of time but rather which verb form to use with that pronoun. Does it call for the plural or the singular verb form, as in “They are” or “They is?” I vote for “They is.”

I confess to being a bit of a fanatic about the arcana of grammar and syntax, but I am not a language tyrant. Language evolves so quickly that the “rules” desperately try to keep up with usage. Good writers instinctively know the rules and then go about flaunting and manipulating them. I am not trying to be snobbishly picky when I raise the question of pronoun/verb agreement. There are two important issues raised by verb choice in this situation, one of meaning and one of value judgment. “They is” clearly communicates the meaning of one, and only one, person rather than a group of people. The value judgment implied by using the singular verb  is implicit acceptance and acknowledgment of the person’s choice to not identify as being of male, female, or any gender. The slightly jarring effect of hearing a singular verb follow a typically plural pronoun makes “they” stand out in the sentence. It’s not just any old use of “they.” It’s a special case that reflects and honors the desires of that person.

Yeah, I know. “They is” just sounds plain wrong. But it only sounds wrong because we are used to having heard it another way for our entire lives. If the singular verb is used more frequently and consistently, the dissonance will fade. I remember the endless discussions about whether one should use a singular or plural verb with the word “data.” Now, it’s like Who Cares? “Date are” and “Data is” both now sound equally fine and either form is considered acceptable by most authoritative usage guides. Rule-obsessed grammarians can argue all they want; the rest of us just get on with our linguistic lives.

No doubt some of you will disagree with my suggestions. So I open up the discussion to the Good Readers. What do you think? And is there other vocabulary that needs reconsidering and discussion?

 

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Mind Games

As is the case with many topics in genetics, I learn the most in my time away from the office, researching questions for friends and family. And the genetics questions du jour are almost all related to pharmacogenomics (PGx) testing. More specifically, PGx testing for psychiatric medications. Maybe you are getting these questions too? For me, they usually go something like this:

Are these genetic tests that promise to tell you what

antidepressant medication will work best for you a real thing?

And if they are, why isn’t everybody taking them?

I have witnessed friends and family members struggle with medication management for depression, anxiety and mood disorders. People in these situations are often desperate for help and quite vulnerable. I can fully appreciate the hope that a simple genetic test could provide the answers to ease the journey. But as we find with many things in genetics, the reality is much more complicated than the hopeful answer we wish we could give. Ultimately, I know my position on this will disappoint many who are looking for that silver bullet. While there are a handful of applications for pharmacogenomics in specific situations related to psychiatric medications that have evidence to support their use, there is little evidence that multigene panels in this area lead to better outcomes. There is concern that harm may come because of the use of this unproven information to guide important decisions with prescribing and dosing of psychiatric meds. 

My conclusions regarding these tests are in part based on critiques from reputable sources on the current state of commercially available PGx psychiatric panels, including the American Psychiatry Association Workgroup for Novel Biomarkers and Treatments. This workgroup performed a detailed review of several commercially available tests and concluded that there is a lack of sufficient evidence to support the widespread clinical use of the proprietary combinatorial pharmacogenomic models used by these labs. There are many publications that highlight issues with existing studies about these tests including concerns related to conflict of interest and problematic study design. The financial sector is also following this topic closely given much has been invested based on the promise of these testing products being adopted broadly. Recognizing the strong commercial drivers at play here also causes me to view laboratory claims with a dose of skepticism. 

But when it comes to the general public, I think the commercial push to see these tests more broadly adopted is drowning out the voices of the experts who are urging caution. It seems that since many in the field of psychiatry aren’t convinced that these tests are ready for prime time, the labs have decided to bypass the most relevant specialty, and go straight for patients and primary care providers. Additionally healthcare payers are banking on the promise that these PGx tests will more than pay for themselves by allowing for better precision in prescribing of expensive medications. Payer support is helping to move psychiatric PGx testing to the mainstream.

New pharmacy-laboratory partnerships are emerging to promote these tests. Last year, PGx lab Genomind®  announced a partnership with Albertsons Sav-On, Jewel-Osco and Acme Sav-On pharmacies: pharmacists can discuss PGx testing with patients and, if the patient consents, the pharmacists will directly contact the prescribing provider to “suggest the Genecept® Assay. ” The  sample can be collected right in the pharmacy. Last month, Myriad Genetics, Inc. announced a similar program with Kroger Prescription Plans to promote GeneSight®  genetic tests in Kroger pharmacies. From the GeneSite® press release: “pharmacists at more than 2,300 Kroger stores will provide counselling about GeneSight® to eligible employer group members and facilitate testing with their prescribing healthcare professionals.”

Pharmacists are now direct marketing genetic testing to patients. And while members of the pathology and clinical laboratory space are taking some issue with this, there hasn’t been much public concern raised by the broader medical genetics community about this proposal to have pharmacists providing “genetic counseling” and facilitation of genetic testing.   

It will be interesting to see how these programs evolve with greater attention from regulators. With several years of push and pull between labs marketing these tests and clinicians raising concerns about their clinical utility and safety, the FDA has recently started to flex their regulatory muscles in this space. In Oct 2018, the agency published a Safety Communication, warning patients not to change management based on PGx results without first discussing with their healthcare provider and to be aware that claims made by genetic testing laboratories about PGx tests are not supported by sufficient clinical evidence. The FDA cautions healthcare providers in the use of these tests and directs providers to FDA-approved drug and genetic test labels. Lastly, the communication advised test manufacturers not to include specific drug information that is inconsistent with FDA-approved drug labeling. In April, the FDA sent a letter to Inova Health System with concern that the clinical validity of their PGx tests had not been established for the reported intended uses. Shortly after this letter was issued, Inova elected to cease offering their MediMap® tests. The FDA has been in communication with several other laboratories and stated that “most firms addressed the FDA’s concerns by removing specific medication names from their labeling, including promotional material and patient test reports.”

Some of the critiques I have heard about the FDA’s engagement in regulating these tests is centered around whether or not the FDA should be the authority on the evidence required to support the relationship between certain variants and drug metabolism. A frequently referenced pain point is the difference between the PGx genes/variants that make the cut per FDA drug labeling and the evidence grade rating per the Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network (CPIC). In looking at most of the commercially available PGx tests on the market today though, it is clear that many of the variant-drug connections included on lab reports are not consistent either with the FDA-approved list or with CPIC guidelines

For example, the sample GeneSight® report available online as of the day of this posting, under the category of “Mood Stabilizers” shows three drugs in the red bucket, “Significant Gene-Drug Interaction” and no drugs in the green, “Use As Directed” bucket. Top of the red list is lamotrigine (Lamictal®), which has a footnote that reads “Use of this drug may increase the risk of side effects.” The justification given in the Gene-Drug Interactions table is a variant in the UGT1A4 gene. Search of the CPIC database gives the UGT1A4 – lamotrigine pair a “D” level rating. According to the website, the CPIC D Level is defined as follows: “There are few published studies, clinical actions are unclear, little mechanistic basis, mostly weak evidence, or substantial conflicting data. No prescribing actions are recommended.” How might this report affect a person with bipolar who is struggling to find the right medication? One can imagine that it may be difficult for both the patient and the prescribing provider to feel comfortable with a treatment plan when not supported by this genetic test report.

For the same GeneSite® sample report, under the “Antidepressants” heading, there are a total of 22 antidepressents for which analysis is available, with only three in the “Use as Directed” green bucket. Top of that long list of 22 drugs in the red, “Significant Gene-Drug Interaction” bucket is bupropion (Wellbutrin®). Bupropion is a medication commonly used to treat depression and has been approved by the FDA for use since 1985 with a generic version of this drug readily available. There is no data in the CPIC database to support the assertion made my GeneSight® of a “Significant Gene-Drug Interaction” with bupropion. And interestingly, the only three antidepressant medications that made it to the green “Use as Directed” category are expensive drugs for which no generic version is available: levomilnacipran (Fetzima®), desvenlafaxine (Pristiq®), and vilazodone (Viibryd®). If I received this report and didn’t know better, I might assume that these drugs would be worth the high price tag if they are genetically the most likely to treat depression without the potential for side effects. There is no gene-drug information in CPIC about any of these three preferred medications, and I didn’t have to look very far beyond the GeneSight® report to see the long list of side effects and contraindications associated with each of these medications. But imagine the difficulty a prescribing provider might have in convincing a patient to consider forgoing the expensive new drugs in the green bucket to consider a more affordable medication with a longer history of success in treatment from the red bucket. Lab reports are not often looked at as one piece of the puzzle, but rather as the *truth* by patients. And as I have previously written on a different topic, it is incredibly difficult to convince a patient that an expert assessment may be more trustworthy than what is printed on a test report. 

Regulation of genetic testing is a big and thorny issue, and I don’t claim to have easy solutions for improving these challenges. But what I do hope to do is to begin a conversation with my fellow genetic counselors on what role we should have in the dissemination of information regarding PGx testing. I feel it is our professional obligation to understand, to the best of our abilities, the evidence or lack thereof when counseling our patients, consulting with other healthcare providers and discussing these tests with friends and family. When people first started asking me about these tests, my initial feeling was one of hope and optimism. Of course it would be wonderful if a simple genetic test could provide a clear path towards the best medication for those who are suffering. Now, after having spent hours down the rabbit hole to try to better understand the current state of this field, I remain hopeful that these tools may someday provide real benefit for the masses. Unfortunately, it seems to me that at the present time, this wild west of the competitive genetic testing marketplace has resulted in bigger but not necessarily better panels, including information that is often not evidenced-based. I worry that these reports could lead people down a wrong, and potentially dangerous path.

So for now when my loved ones ask me, “are these genetic tests that promise to tell you what antidepressant medication will work best for you a real thing?” I will give the more cautious and complicated answer. While this technology holds promise for the future, the evidence we have at this point does not support that these tests will help guide better care and lead to better outcomes for most people. And I will continue to do my best to support them on the journey forward, wherever the bumpy and winding road may lead.

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How Much Is That DNA Test In The Window, The One With The Waggely Price?

The recent stories about Medicare fraud and genetic testing have been pretty awful. Taking advantage of older people in order to scam the government…. well, what can you say? There’s a cheater born every minute and they are doing their best, or, really, their worst, to turn honest people into feeling like suckers.

Moral outrage aside, the stories got me to thinking about how unsure I am about the costs of genetic testing and how it gets billed to patients and insurers. Important point – I am not suggesting that reputable labs are flimflammers or hucksters. I am forever grateful to labs for their efforts in working with patients’ health insurers to determine coverage. I understand that pricing structure and billing are complicated even for professionals who spend their whole life doing it. Labs should make as much legitimate profit as they can. Sometimes the eligibility and testing guidelines are not so clear. I was born – but not yesterday.*  I just don’t know how it gets done and how the rules and regulations are navigated, at least in my narrow world of cancer genetics, though I suspect it is a problem in other specialties too. I’ve tried to become an informed user but it is a dense subject.  I feel as clueless as Buzz Lightyear (or, as Woody sometimes calls him, Buzz Light Beer). Genetics is easy in comparison. So I have questions.

I understand that each lab negotiates prices with each private health insurer and that the specifics are sort of Top Secret. But why are the negotiated prices for essentially the same test so different for each lab and insurer? Surely insurers are not so incompetent that they don’t realize this. They too are looking to be as profitable as they can be. All else being equal, shouldn’t insurers negotiate about the same price with Labs A, B, and C?  And if Lab D doesn’t like the price, well tough on them and they can be  relegated to the dreaded status of  “nonpreferred lab.”

Then there’s Medicare. Medicare rules vary a bit by region and are potentially negotiable in particular instances. But Medicare guidelines make it clear that usually patients must have a diagnosis such as breast or ovarian cancers (and in some situations also need to meet family history criteria) for testing to be covered. Some labs will not bill Medicare for patients who do not meet criteria and charge patients an out of pocket amount consistent with what they would have charged Medicare if it was a covered service. Other labs will bill Medicare and appear to eat whatever Medicare does not cover. Is it all a matter of different interpretations of ambiguous bureaucratic wording? And is it an illegal inducement if a lab offers free genetic counseling along with testing?

When insurance is bypassed and  a patient pays out of pocket how is it that the charge to the patient for more or less the same gene panel across labs can range from $250 to ~$2,000? Depending on which lab you use, patients can even get a panel for fifty bucks if they are “fortunate” enough to have a pathogenic variant segregating in their family. Or the patient at risk for a specific familial pathogenic variant could get the gene in question sequenced, but not a panel, for free, if testing is ordered within 90 days of the relative’s test. Or that same patient could just be tested for the specific variant and pay around $400-$500 out of pocket. If you have prostate cancer, or certain other genetic conditions, you can get a panel test at no charge because the testing is “sponsored” by a separate lab, usually from Pharma, with whom de-identified data may be shared (is it still possible to deidentify DNA anymore?).

I am all for removing financial and other barriers to genetic testing and counseling. I work hard at making sure my patients pay the lowest possible price for a quality test. I understand the need for research and cooperation between labs to develop new treatments. And it can be cut-throat competition out there where everyone’s trying to hack off a big chunk of market share. For sure, many of these issues are symptoms of the crazy health care system and spending in the US. At the same time, I wonder whether my pursuit of making sure that my patients  get coverage for their genetic testing is blinding me to problems with billing and charging. I do not want to cross any ethical or legal lines and I don’t want put my patients in financial jeopardy.

Perhaps the Good Readers of this blog are willing to share their insights and stories. Please don’t name names or try to vilify a particular lab; keep it de-identified. We can air it out collegially and constructively.


  • – I admit that I stole this great line from Season 2 of the Showtime series The Chi.

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What Do We Mean By “Psychosocial” in Genetic Counseling?

Genetic counselors are proud of the psychosocial component that we claim to bring to patient care. Hey, we’re not just programmed human chat boxes, clever information-givers, or educators. We attend to the emotional and psychological needs of our patients and strive to transform our sessions into something closer to a psychoeducational experience, sometimes with psychotherapeutic effects. All that “psycho-” is what transforms genetic counseling from a cold clinical encounter into a humanistic endeavor.

Hence many readers may be upset when I suggest that we retire the sacred word “psychosocial” from our vocabulary. This bug was put in my ear by my esteemed colleagues Barb Biesecker, who has enough publications to fill 3 careers; Jehannine Austin, a world leader in psychiatric genetic counseling; and Laura Hercher, Renaissance woman and host of the genetics podcast The Beagle Has Landed.  I am authoring a chapter for their soon-to-be-published book (Genetic Counseling: Clinical Practice and Ethical Considerations, in the Cold Spring Harbor Laboratory monograph series Topics in Medicine). When I submitted my chapter they asked me to remove the word psychosocial from the text. Similarly, Barb Biesecker, Kathy Peters, and I are co-authoring a genetic counseling textbook to be published this Fall by Oxford University Press (Advanced Genetic Counseling: Theory and Practice), and “psychosocial” was dropped from that text too, unless my Find and Replace function missed a few instances.

It’s not that I or they think that genetic counseling shouldn’t have a psychological component. On the contrary, I and they think it is a defining element of our profession, even if in practice genetic counseling may be “less psychosocial” than we say it is. The point of contention is that “psychosocial” is too imprecise a term to be meaningful in a research or outcomes kind of way in the context of modern genetic counseling.

The term “psychosocial” arose in the social work profession in the early 1940s and is usually attributed to Gordon Hamilton, an influential Columbia University social worker. The aims of the psychosocial approach in social work are to “restore, maintain, and enhance the personal and social functioning of individuals through mobilizing strengths; supporting coping capacities; building self-esteem; modifying dysfunctional patterns of thinking, feeling, and relating to others; linking people to necessary resources; and alleviating environmental stressors.” You can see how this fits with what genetic counselors claim to do.

Historically speaking, it was natural for the fledgling field of genetic counseling to borrow some of its vocabulary from social work. Sheldon Reed famously and vaguely defined genetic counseling as “a form of genetic social work.” Joan Marks who, along with Melissa Richter, established the first genetic counseling training program at Sarah Lawrence College in 1969, was a social worker and perhaps this is where the term reflexively entered into the genetic counseling lexicon. Particularly during the first two decades of the profession, not a few genetic counselors were social workers (In my younger years, when there were far fewer genetic counselors, I was professionally acquainted with at least five social workers, two of whom helped train me). The psychosocial approach helped give genetic counselors a raison d’être that set us apart from clinical geneticists and provided a focus to our training and the care that we provide. The psychosocial paradigm in genetic counseling is embodied in Jon Weil’s 2000 classic text Psychosocial Genetic Counseling (Jon, by the way, was a psychotherapist, not a social worker).

But those were the early days when we provided a limited service to a narrow segment of the patient population. The psychosocial component  gave us a leg to stand on but now it seems like more 0f a crutch. At a half century old, genetic counseling can no longer be considered a new profession. The average age of its practitioners is much less than the age of the profession itself. Genetic counseling is now better characterized as a mature specialty. It’s about time we stood on our own two feet. I celebrate the outstanding work done by social workers but genetic counselor are not social workers, and vice versa.

Deep down, the fuzziness of the term has always made me uneasy. And let me tell you, Barb and Jehannine, two of the most passionate genetic counselors I have ever met, have far stronger criticisms of “psychosocial” than just its fuzzy qualities. Although a dictionary will provide a definition, in the setting of genetic counseling its unstated meaning is something like “those components of a genetic counseling session that are not strictly educational or technical.” It tells us nothing about assessing the effectiveness of the components or outcomes of genetic counseling; or how to improve them; or how to develop a scientific foundation for teaching, applying and researching genetic counseling; or how we can contribute to basic research into the human mind and behavior. For decades, genetic counselors were very poor at demonstrating their utility or effectiveness or at investigating those aspects of our service that were beneficial, harmful, or useless to patients (except in the Netherlands, which has consistently produced some of the best genetic counseling research, and a few other select researchers). This may have been in part due to the imprecision of the term “psychosocial.” That needs to change.

No doubt many of the good readers of The DNA Exchange will be angered, upset, and confused about the proposal to drop psychosocial from our vocabulary. And just plain disagree. Well, good. That’s one of the reasons I write this stuff. I want us to get worked up about genetic counseling, think hard about it, question its very core, and engage each other collegially. Those are the sorts of reactions we should have if we are as passionate about genetic counseling as Barb and Jehannine are and if we want to deliver the best possible patient care.

 

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Is GINA Unjust?

The Genetic Information Non-Discrimination Act (GINA) of 2008 is widely regarded by the the genetics community as a critical piece of legislation. GINA provides safeguards against using genetic information to discriminate against healthy people when they apply for health insurance and employment. In what seems like a legislative fantasy from the perspective of today’s polarized American political climate, GINA passed by a vote 95-0 in the Senate, 414-1 in the House of Representatives (Ron Paul of Texas being the lone dissenter), and signed into law by President George W. Bush. It doesn’t get any more bipartisan than that.

I don’t know if anyone has ever studied the impact of GINA on utilization of genetic counseling and testing but my clinical experience, and I suspect that of many of my colleagues, is that discussion of GINA is a component of many genetic counseling sessions. The protections of GINA play a key role in the decision of many of my healthy patients to decide to undergo genetic testing (although Americans have divergent views about health insurance, they have broad feelings of mistrust of health insurers). I am pretty sure that support of GINA among genetics community is as unanimous as it was among the 2008 Congress. Unanimous, that is, except for me. Well, kind of.

Now hear me out before you consign me to Tweet Hell (which, if Dante were to write the Inferno today, he would include it as a 10th circle of Hell, below the 9th Circle of Treachery’s frozen lake where Judas Iscariot resides for sub-zero eternity). I have not sold our genetic savior for a sack of silver and I am not opposed to protecting people from discrimination in insurance and employment. With the future of health insurance in America in question, the prospect that GINA or the Afforable Care Act might one day be repealed gives me a serious case of the fantods. My criticism is that GINA is unfair to people who might suffer discrimination in health insurance for non-genetic reasons.

 

GINA is an example of genetic exceptionalism, the term coined in 1997  by the widely respected bioethicist Thomas Murray to describe the belief that “genetic information is sufficiently different from other kinds of health-related information that it deserves special protection or other exceptional measures.” Genetic exceptionalism has implications for other aspects of genetic medicine in addition to health insurance protection, as my DNA Exchange colleague Allie Janson-Hazell discussed some 8 years ago. Genetic exceptionalism has generated a quarter century of unresolved debate, with supporters waving it as a banner and critics using it as sword to attack the other side. Like Murray, I am critiquing GINA from the perspective of distributive justice – the just distribution of goods and resources.

The starting point of my argument is that, in the absence of compelling reasons otherwise, everyone should have equal access to affordable health insurance. From that perspective, GINA gives the appearance of being a good thing because it helps produce a more equitable distribution of medical insurance among healthy people who have a family history of a genetic condition or who carry a pathogenic mutation. But this is where genetic exceptionalism rears its head. What is it about genetic information that is so special that it requires its own piece of protective federal legislation? There are many other bits of health information of equal or greater import in predicting future health. My own hemoglobin A1C and fasting glucose levels for one, which are in the “prediabetic range” (though I could be “cured” simply by moving north a hundred miles to Canada, where the cut-off for an elevated A1C is higher than in the US). A perverse effect of GINA is that – should the Affordable Care Act be repealed – my A1C levels could be used against me in applying for health insurance but I would be protected from that same discrimination by GINA if a polygenic risk score, a more uncertain predictor of diabetes than A1C or fasting glucose levels, indicated I had an increased chance of developing Type 2 diabetes.The same could be said for lipid levels, blood pressure, Protein C levels, HPV status, and any of a number of other data points that are uncovered when doctors start probing around in the fluids and bodies of healthy patients.

The net effect of GINA when it passed, and could happen again if the Affordable Care Act is repealed, is an unfair distribution of health insurance such that healthy people who have non-genetic risk factors are not afforded equal protection. And, to pack the wound with some salt, this “non-genetic” risk pool could wind up paying higher insurance premiums that result from greater costs incurred by insurers for covering protected people with genetic risk factors who eventually develop breast cancer as the result of a BRCA pathogenic variant or Huntington disease due to an HTT pathogenic variant.

So GINA falls short in the bigger picture of distributive justice. By privileging genetic information, arguing that it is somehow more important than other medical information, GINA results in economic and health care inequities. The unintended implicit territorial message of  the genetics community’s praise of GINA is “Hey man, our patients are protected and that makes GINA a good thing.” But the good that GINA achieves can lead us to ignore its downsides. As I have argued before, our sense of Do-Goodism can create significant blind spots. It is difficult to defend a law as being just if it privileges one group of people at the cost of harming or excluding another group of people for what appear to be arbitrary reasons. GINA is a symptom of America’s ailing health system, not a cure.


Thanks again to Emily Singh for her graphics work.

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Guest Post: We Can Do Better – The Experience of a Minority Genetic Counselor, by Tala Berro

Tala Berro is a genetic counselor in the Boston area. She is a queer, Arab woman who is also a racial justice and LGBTQIA+ activist. You can follow Tala on twitter here: @tala_berro

Bob Resta recently wrote a blog on his experience of being a man, as well as the advantages and disadvantages of being a woman, in our woman-dominated field. He called upon us good readers to share experiences “where you are not quite like everyone else.” Being a queer person of color in genetic counseling, I immediately took up his call. In part due to my various identities, there have been countless instances during my genetic counseling training and career when I have felt “not quite like everyone else.”

Let’s start with intersectionality, a term coined by Black feminist scholar Kimberlé Crenshaw in 1989 to highlight the ways in which black women were excluded from the feminist movement. Crenshaw notes that “not only are women of color in fact overlooked, but their exclusion is reinforced when white women speak for and as women.” In this blog post, I want to take a deeper dive into how my own intersecting identities as a queer, Arab woman affect my experience as a genetic counselor.

The genetic counseling profession within the Unites States is overwhelmingly white. As reported by the National Society of Genetic Counselors (NSGC), 92% of the 2018 Professional Status Survey respondents identified as white, which is easily visualized when one walks through the exhibit hall at the NSGC Annual Education Conference. Although there are many reasons why we often see a higher percentage of white individuals in jobs that require a graduate degree, genetic counseling is an especially white field. In comparison, 54% of software engineers are white, 80% of public school teachers are white , and 68.2% of physicians/surgeons are white.

The foundation of empathy is what drew me to the genetic counseling profession. I knew that I would come in as an outsider, but I hoped that caring, open-minded genetic counselors would make for caring, open-minded classmates, supervisors, and coworkers. However, we have a long way to go. Genetic counseling training programs incorporate lessons on the importance of culturally appropriate counseling of patients, but this same openness and acceptance is not always extended to fellow genetic counselors.

I started to notice my “otherness” in the field of genetic counseling from the beginning of graduate school. Being an Arab genetic counseling student always had its pros and cons. My favorite instances as a student were when an Arabic speaking patient would come into a genetic counseling session and I could utilize my knowledge of Arabic. This shared language and its ability to add comfort to my patient always felt really special. More often than not, though, sessions with Arab patients would end in a debriefing session with a supervisor who would ignorantly state microaggressions, judging family sizes, and gender dynamics. After one of these sessions, my supervisor and I were discussing the patient and mentioned the specific Arab country they were from. A medical professional in the workroom overheard and noted that, to her, this specific country is associated with danger and violence. There was no response to this comment. I was left shocked, dismayed, and anxious, without an outlet to seek support from other genetic counselors of color or Arab background.

What is currently seared into my mind as a genetic counselor of Arab descent whose community often attends mosque, is the massacre in New Zealand. I came to work devastated and shaken. While not all individuals of Arab descent are Muslim, I (and many others) consider those who are Muslim to be members of my community. Perhaps a genetic counselor saw a Muslim patient that Friday and provided comforting words. I wondered, though, how many genetic counselors reached out to their peers or students who may have been impacted by this. From my own experience of not receiving messages of support, I would guess not many.

In addition to racial barriers, being a queer genetic counselor comes with its own barriers to navigate. Based on my training experience, genetic counselors are growing in their awareness of pronouns and gender identity, often using the word “partner” when counseling. However, on an interpersonal level, it takes more than just awareness for true inclusion. I recall a conversation from back when I first started as a genetic counseling student in which I proudly identified myself as queer. This statement was met with discomfort and confusion. I know that genetic counselors are educated on the importance of mindfulness and inclusivity of the LGBTQIA+ community and are taught to be verbally-inclusive with patients who identify this way during a session. However, there seems to be a discrepancy in how these lessons of acceptance are actively applied by genetic counselors in and out of clinic. The ability to sustain a relationship with a patient over a 60-minute genetic counseling session does not translate to intentionally cultivating an authentic relationship with someone of a different identity from you.

One universally challenging aspect of genetic counseling training is providing and receiving feedback. To be evaluated on your words, demeanor, and body language while you are learning to interact with patients and cope with emotional situations is difficult. However, feeling like you are also being evaluated for your values, beliefs, and cultural upbringing is much harder. At times, I have been critiqued for my character and values, as opposed to my specific counseling skills. I have been encouraged to “play devil’s advocate” to my own beliefs. For example, during my training, I was given feedback that highlighted my potential to advocate for underserved patient populations, and also challenged me to find ways of connecting with patients who are different from me. This feedback came before I even had the opportunity to interact with a single patient. I felt critiqued not on behaviors I exhibited but on behaviors that were assumed of me. It also felt like this feedback was unnecessary reiteration that I am different, as the minority, and that I will be expected to live and fit in a world of the majority. Through these experiences I wondered: were my professors and supervisors feeling defensive because I was different from them and teaching me felt different than teaching others in our field? Who could I turn to within the field to talk about my thoughts and concerns?

Whenever I hear the term devil’s advocate, I think back on a blog post by Juliana Britto Schwartz. She writes, “dearest devil’s advocates: speak for yourself, not for the ‘devil’. Teach yourself. Consider that people have been advocating for your cause for centuries, so take a seat. It’s our time to be heard.” It is often forgotten that those with underrepresented identities have lived their entire lives being forced to understand the majority. These same privileged experiences to which I was encouraged to have an open mind are mirrored by what I read about in fiction, watch on television, and learn about in the history books. As a queer genetic counselor of color, I understand how to navigate these spaces because I have been forced to my whole life and will continue to do so in my professional life. Instead of ensuring that I understand and empathize with the majority experience, why don’t we make sure that the majority understands and empathizes with the minority experience?

As genetic counselors, we consistently discuss and learn about empathy for our patients. My hope is that we can take these lessons and apply them to our colleagues and peers outside of a counseling session. To my fellow genetic counselors, I propose the following version of the golden rule: treat your peers as you treat your patients.

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