Last week in Part 1 I looked at the potential impact of Trump’s policies on genetic counselors. Here I speculate about their impact on patients. As in my last posting, my analysis is not complete and, so far, mostly speculative because the effects of the policies are only beginning to be felt and Trump flip-flops so frequently that it’s hard to know how permanent they will be.
When that storm comes Don’t run for cover Don’t run from the comin’ storm
– Lyrics from “Storm Comin’ ” by Ruth Moody and released in 2011 by The Wailin’ Jennys*
I have often said that every genetic counselor and medical geneticist I have ever met would march into Hell for their patients and take on The Devil himself. Well, welcome to Hades. As bad as Trump’s policies are for genetic counselors and the larger medical, scientific, and research communities, patients are likely to fare far worse. Genetic counselors for the most part “only” have to worry about their jobs. Patients have to worry about their jobs, losing access to healthcare, reproductive healthcare, supplemental income, disease management, and life-saving treatment. As is the unfortunate par for the course, vulnerable populations will suffer the most – women, the poor, people living in rural areas, the elderly, documented and undocumented migrants, children, people with disabilities, LGBQT+ people, non-White people, and disabled veterans. The inhumanity of this is beyond comprehension.
Impact On Access To Health Insurance, Health Care, Social Service and Education
The claim that there are billions of dollars of Medicaid/Medicare fraud and waste committed by enrollees is blatantly false. The vast majority of fraud is committed by providers, not patients. And work-requirements for Medicaid recipients are laughable and only feed into the myth of a large body of “undeserving poor.” 65% of people on Medicaid work but typically in jobs with low salaries and no health benefits. Those who don’t work do so because they are disabled or ill, are attending school, or are caregivers. The work requirement implemented in Georgia a few years ago resulted in the majority of Medicaid money funneled toward covering administrative costs for the work requirement program rather than needed services for enrollees. If you are serious about saving significant amounts of money in the Medicaid program, go after the providers and the state administrators, not the recipients.
The Department of Education has lost nearly half its work force since Trump took office, with the most recent firings on March 11. Further funding and personnel cuts are likely in the near future, with possible elimination of the department altogether. The Department of Education’s Office of Special Education Programs funds grants to states that then distribute the funds to local school districts. In 2023, this amounted to $18.4 billion in aid. Many children with developmental disabilities rely on state-funded educational intervention programs to help them achieve their full potential.
Immigrants, documented and undocumented, may lose access to Medicaid due to funding cuts and anti-immigration bias. About 50% of undocumented immigrants and about 1 in 5 lawfully resident immigrants lack employer-sponsored health insurance even if they are employed. Not only do they face restrictions and barriers to accessing government-sponsored health insurance, they may not even want to seek health care out of fear of being deported. Oh, for those who say they don’t want their tax dollars going to insure immigrants, in 2023 undocumented immigrants paid about 90 billion dollars in local, state, and Federal taxes. And, if they are legally employed, they pay into Medicare but are not usually eligible to receive Medicare benefits.
Why the need to persecute people who are gay or transgender or whoever isn’t cis-heteronormative? Can’t you just let people try to lead their lives and loves in peace and good health, and leave them alone already? Life is hard enough as it is.
From a practical political standpoint, it’s difficult to understand how these moves will help Republicans win votes in future elections at the state and federal levels. Medicaid and Medicare covers over 100 million people of voting age, and another tens of millions of voting age adults are LGBQT+, for a total of well over 100 million voting age adults. In the 2024 election, 155 million people voted altogether. If these groups united behind a presidential candidate who promised not only to restore but expand those benefits, the candidate would win in a true landslide (unlike the landslide victory that Trump keeps claiming, which was actually one of the smaller victory margins since the 19th century). But people often do not vote in their own best interests or just don’t vote at all so it’s hard to know how this will play out in the ballot box.
Impact On Reproductive Healthcare
“I said, ‘Well, I’m going to do it, whether the women like it or not,’” Trump said. “I’m going to protect them.”
The situation is just as dire for access to reproductive health care. As noted above, Medicaid covers about 40% of births in the United States overall, increasing to about 50% of births in rural areas. Medicaid cuts will likely further the closure of hospitals in rural areas, where hospitals depend more on Medicaid funds than in large metropolitan areas. This means that there will be loss of obstetric services in poorer rural areas (and other medical and mental health services too), so women will have to travel further to deliver their babies. Loss of childbirth coverage will likely result in more health problems for mothers and babies, and further contribute to US neonatal and maternal death rates, which is among the highest in the world. The maternal mortality rate is particularly high among Blacks; about 65% of Black women are covered by Medicaid.
Trump takes credit for overturning Roe v. Wade, a ruling which has led to extensive abortion bans around the country. It seems likely that the extent and number of bans will increase over the next few years, backed by support from Mordor The White House. But the administration’s policies extend beyond abortion to birth control and research about maternal health outcomes. Executive Order 14182 signed on January 28 rescinded two of Biden’s Executive Orders, the consequences of which include:
•Dismantling the Interagency Task Force on Reproductive Healthcare Access, which had been established to ensure a whole-of-government response to the crisis
•Stopping federal agency efforts, specifically by the Department of Justice, the Department of Homeland Security, and Federal Trade Commission, to protect patient and provider privacy and security
•Halting agency efforts to enforce anti-discrimination law in response to reports of people being denied emergency abortion care and prescription medication
•Stopping federal agency efforts to ensure individuals receive emergency abortion care as guaranteed by law
•Ceasing efforts to advance abortion access for patients enrolled in Medicaid who must travel for abortion care
•Stopping public education and awareness efforts about access to reproductive health care, including informing people about how to obtain birth control;
•Blocking data collection, research, and analysis in measuring the effect of access to reproductive health care on maternal health outcomes and other health outcomes.
They may as well have put The Taliban in charge of women’s reproductive health care policy.
On its face, Trump’s Executive Order increasing access to IVF appears to be a win for reproductive healthcare since many private insurers provide minimal or no coverage for this service. However, the order only recommends that “Within 90 days of the date of this order, the Assistant to the President for Domestic Policy shall submit to the President a list of policy recommendations on protecting IVF access and aggressively reducing out-of-pocket and health plan costs for IVF treatment.” It lays out no concrete strategy for raising the funds to cover this expansion or forcing insurers to cover it, and makes no mention of coverage for other assisted reproductive technologies (ART). More critically, the Executive Order may wind up limiting access to IVF. Vince Haley, who is the Assistant to the President for Domestic Policy and responsible for creating the recommendations, is a former assistant to Newt Gingrich, a speechwriter for Trump under the supervision of Stephen Miller, who is virulently anti-LBGQT+ and anti-immigrant. Hence Haley’s policy recommendations will likely exclude LGBQT+ people and unmarried heterosexual people from having access to IVF. I wouldn’t be surprised if the policies also exclude immigrants, given Haley’s connection to Stephen Miller, the administration’s emphasis on pronatalist policies, and Trump’s allusions to “white replacement theory.”
Robert F. Kennedy, Jr., the head of the Department of Health and Human Services, has made a career of spreading lies, inaccurate claims, and misinformation about vaccines. His anti-vaccination stance could result in fewer women and chlldren getting the MMR vaccination or the varicella vaccination if they are infection-naive adults. This could in turn lead to an increase in the incidence of congenital rubella syndrome and congenital varicella syndrome. If a mother acquires measles during pregnancy, it could lead to serious consequences including death, pneumonia, miscarriages, stillbirth, prematurity, and low birth weight. And cod liver oil, Kennedy’s preferred treatment for measles, contains high levels of vitamin A, a potent human teratogen.
Impact On Income
Proposed cuts to Social Security could have dire consequences for people with disabilities and their families. Social Security Disability Insurance (SSDI) provides supplemental income to adults and children with disabilities. It is the only federal financial program for this group, and serves only the lowest income families whose children have conditions such as Down syndrome, cerebral palsy, autism, intellectual disability, and blindness. Families receive about $800 a month on average. The families are so poor that even shaving a few dollars off that amount could have profound effects. These cuts are being proposed by the world’s richest man who sells trucks that cost at least $100,000 each and gets free advertising at the White House. Yeah, he’s tuned in to the needs of low income families and people with disabilities.
Cartoon by RJ Matson, editorial cartoonist at Roll Call, a newspaper covering Congress and Capitol Hill. Source: The Contrarian https://contrarian.substack.com
Impact From Limitations And Cuts To Clinical and Genetic Counseling Research
Funding and personnel cuts at the NIH would be another blow to the care of genetic counselors’ patients. The NIH, and particularly the National Human Genome Research Institute (NHGRI), are key sources of clinical and other research programs focusing on hereditary disorders. In particular, it specializes in people with rare disorders and serve as a resource for the families and their healthcare providers who have nowhere else to turn to. NIH and NHGRI helped establish and maintain the Undiagnosed Diseases Program, which is instrumental in providing diagnoses and care recommendations for people who have been seeking a diagnosis in vain, sometimes for decades. Most of the stunning advances in the treatment and care recommendations for rare genetic diseases are based on research performed at this Institute.
Patients would also be negatively affected by the loss of NIH-funded genetic counseling research that examines the pychological, familial and medical impact of diagnosis, treatment, and management of genetic conditions on patients and their families. The value of cutting edge clinical research would be blunted in the absence of the best way to implement discoveries into the lives of patients so they can get maximal benefit. Any cuts to NHGRI would be keenly felt by patients with genetic conditions.
We cannot be lulled into a sense of powerlessness and inevitability about these policies. We can’t only rant and rave. We need some radical optimism. We need to fight back tooth and nail in small and big ways. We need to encourage our patients and colleagues, at least those who are not vulnerable and deeply threatened by the political climate, to let their government representatives know in no uncertain terms that these policies are unacceptable and that their political futures hinge on sane and compassionate policies. We need our professional organizations – NSGC, ACMG, ASHG – to start collecting data in an organized and coordinated fashion to document specific situations and cases where the policies have negatively affected patient care and the practice of medical genetics and genetic counseling and broadcast it far and wide. Let’s put Hell back where it belongs.
– For some reason, these days I am favoring Canadian musicians. Lots of time listening to the Wailin’ Jennys, Joni Mitchell, Leonard Cohen, Kate and Anna McGarrigle, Rufus Wainright (son of Kate McGarrigle), Neil Young, Alanis Morisette, Drake…. I could go on but I don’t want to sound too Tragically Hip. You can take Joni’s line from Big Yellow Taxi and apply it to democracy “Don’t it always seem to go that you don’t know what you’ve got ’til it’s gone?”
This is a two part blogpost. Part 1 focuses on the impact of Trump’s policies on genetic counselors. Part 2, which I plan to post next week, will focus on the impact on patients.
When everyone is up front and they’re not playing tricks When you don’t have no freeloaders out to get their kicks When it’s nobody’s business the way that you want to live Oh my mama told me There’ll be days like this (From “Days Like This” by Van Morrison, 1995; not to be confused with the delightful Shirelles 1961 song with a similar name)
Many genetic counselors are zombie-shocked over the cruel, thoughtless, and harmful policies of Donald Trump (Pronouns: I!/ME!/MINE!). Genetic counselors hold a broad range of political beliefs but most tend to lean left. But liberal and ultra-conservative genetic counselors share a common set of values around patient care, as embodied in our Code of Ethics, re-enforced during our training, and laid out in our textbooks. So even if you support some of Trump’s non-medical policies, surely there should be near universal condemnation, or at the very least concern, over the implications of Trump’s policies for our profession and our patients.
Much of what I discuss below is speculation on what may happen and is not meant to be an exhaustive analysis. The policies are for the most part new and are only starting to impact medical care. Some are working their way through the court system but it remains to be seen how the rulings will turn out and if the Administration will ignore them. Also, the policies tend to change with, as far as I can tell, the direction of the wind (see tariffs). Hopefully, my speculation and predictions will not fully pan out.
First off, the employment of many genetic counselors is at stake. Genetic counselors who work at the National Institutes of Health (NIH) or the Department of Veterans Affairs or other federal agencies such as the military may have their positions may be eliminated by the reckless DOGE budget cutting antics (putting Musk in charge is like hiring Moe, Larry, and Curly to make your car run more efficiently. Man, wouldn’t you like to take a wrench to his nose). In addition, the salaries of some genetic counselors
engaged in research are fully or partially funded by federal government grants. With the cancellation of research proposals that address DEI in any way shapeor form – even if DEI is only mentioned in the proposal – or allude to any of the many other topics that get Donald’s knickers in a twist, funding for these positions may be lost. The employment effects may be further worsened as Trump targets federal funding for universities that don’t conform to his distorted view of the world, such as the recent canceling of $400 million in federal funds allocated to Columbia University under the guise of concern for harassment of Jewish students on campus. The safety of students is a serious concern to be sure, but cutting off funding is just an attempt to stick it to a “woke” university. All this at a time when the job market for genetic counselors is less than ideal.
The underlying economics of genetic counseling services will likely hinge on genetic counselors becoming covered providers under Medicare. The National Society of Genetic Counselors (NSGC) has been working for over a decade to achieve this goal, which seems to be frustratingly closer but not quite there every year. As I noted in a previous post, should the Access to Genetic Counselor Services Act actually come up for a vote in Congress, congressional members may reject it because of NSGC’s DEI policies, as clearly articulated in its gender-first pedigree nomenclature Practice Resource. The profession may miss out on becoming Medicare-covered providers because we are trying to be decent human beings who respect the dignity of our patients.
Trump’s policies on limiting the funding NIH research has the potential to impact the types of research that genetic counselors can engage in or benefit from, especially if some aspect of DEI is involved. The net effect will be delivering sub-standard and unresearched care to some of our most vulnerable patients. Here are the NIH research funding guidelines, as outlined in a recent NIH memo:
Category 1 – The sole purpose of the project or conference is DEI-related – WILL NOT FUND Category 2 – Projects or conference that partially supports DEI activities – WILL FUND ONLY IF THE DEI ACTIVITIES ARE ANCILLLARY TO THE PURPOSE OF THE PROJECT AND ARE ELIMINATED FROM THE GRANT Category 3 – Project or conference that does not support DEI activities but may contain language related to DEI – WILL FUND ONLY IF DEI LANGUAGE IS REMOVED Category 4 – Project or conference that does not support any DEI activities – CAN BE FUNDED.
And here are the justifications for these guidelines, from an appendix to the same memo:
DEI: “Research programs based primarily on artificial and non-scientific categories, including amorphous equity objectives, are anti-thetical to scientific inquiry, do nothing to expand our knowledge of living systems, provide low returns on investment and ultimately do not enhance health, lengthen life, or reduce illness. Worse, so-called diversity, equity, and inclusion studies are often used to support unlawful discrimination on the basis of race and other protected characteristics, which harm the health of Americans.” Transgender issues: “Research programs based on gender identity are often unscientific, have little identifiable return on investment, and do nothing to enhance the health of many Americans. Many such studies ignore, rather than seriously examine, biological realities.”
How much does the Republican Party hate LBGQT+ people? During the 2024 campaign, it spent one quarter of a billion dollars on anti-transgender and anti-LBBQT+ advertising. This is a policy of pure hate and part of the attempt to legislate LGBQT+ people out of existence. Call it administrative genocide.
Trump’s policies also have direct bearing on how genetic counselors document patient encounters in the medical record. Being identified as transgender or non-cisgender or non-heterosexual places patients in a very vulnerable position. Once could easily imagine the government obtaining a warrant or whatever legal document to obtain the medical records of any of our patients; HIPAA guidelines allow healthcare providers to release records without patient permission “as required by law (including court orders, court-ordered warrants, subpoenas) and administrative requests.” An Executive Order signed on January 28, among other horrible things, proclaims that it “Stops federal agency efforts, specifically by the Department of Justice, the Department of Homeland Security, and Federal Trade Commission, to protect patient and provider privacy and security.” Now imagine if a patient had gender-affirming care in a state where it is banned. This puts genetic counselors in a very difficult position. On the one hand, knowing if a person is transgender or non-heterosexual can be important for their healthcare guidance and genetic counseling. On the other hand, documenting that information in the medical record can potentially bring great harm to patients. This is going to require some awfully complex and sensitive discussions with patients. But mostly it will probably just discourage them from seeking medical care. Think I am exaggerating? Well, recall that in 2023, Tennessee’s Attorney General forced Vanderbilt University Medical Center to hand over the medical records of their transgender patients.
This same dilemma holds true for documenting the medical, reproductive and family histories of patients who have undergone a termination of a pregnancy, particularly in states with strict anti-abortion laws. The patient or the provider who performed the abortion could face jail time.
Trumpian attempts to remove “unacceptable” DEI language from federal government discourse and to force federal agencies to modify the information they provide to conform with the president’s views and policies threatens the utility or even the very existence of some of the reference tools and research projects that genetic counselors rely on every day. If we can no longer believe a word that comes out of the mouth of the president or his representatives, and if his policies affect what can be said by government agencies, how are we to trust the content of PubMed, ClinVar, ClinGen, the Morbidity and Mortality Weekly Report and other CDC publications, etc.? What will become of the Metropolitan Atlanta Congenital Defects Program, which was established in 1967 by CDC to monitor the incidence of congenital conditions in the Atlanta area or the National Birth Defects Prevention Network, which maintains a national network of surveillance of congenital conditions? What will be the fate of the International Clearinghouse for Birth Defects Surveillance, a CDC-sponsored program which brings together birth defects monitoring programs from around the world? Maybe the DOGE apparatchiks, in all their glorious ignorance and hubris, will just eliminate them altogether.
Trump’s policies could threaten the safety of some genetic counselors in their workspaces. They may now feel physically and psychologically unsafe at work, particularly those who are not White or heteronormative. They don’t know if their employers will protect them or fire them. Co-workers may blame them for budget cuts that result from decreased federal funding or accuse them of being “DEI hires.” They may be concerned that patients will feel free to harass, criticize, abuse them, or even report them to “the authorities.”
Genetic counseling has a history embedded in eugenics, a history that the profession has tried to disentangle itself from. Here we are again, having to confront the specter of eugenics in our midst. In another chapter from the book titled “We Don’t Learn Any Lessons From History,” the policies and rhetoric of Trump et al. channel the spirit of the Eugenics Record Office. Republican labeling of immigrants as rapists, thieves, genetically inferior, and of low intelligence is the exact same language employed by early 20th century eugenicists to describe, among others, Italian and Eastern European immigrants “flooding” the country (incidentally, my grandfathers were born in Italy and Poland but managed to arrive before the 1924 Johson-Reed Act put extreme limits on the number of immigrants allowed from those countries). Ultra-conservative eugenicists, such as Madison Grant in his 1916 book The Passing of the Great Race, stoked fears of “White Replacement” whereby Northern and Western European American stock would be replaced by large numbers of undesirable immigrants and their many offspring (at the time, Southern and Eastern Europeans were considered a separate race from people of Anglo-Saxons and Scandinavians). So too do Trump, Musk and their ilk seek to limit immigration, deport immigrants, and push pronatalist policies that encourage “native-born Americans” to have more children.
“Leave now. If you don’t, we will find you and we will deport you. You will never return.” Kristi Noem, Secretary of Homeland Security, from a TV commercial threatening immigrants
“Give me your tired, your poor, Your huddled masses yearning to breathe free, The wretched refuse of your teeming shore. Send these, the homeless, tempest-tost to me, I lift my lamp beside the golden door!” – Emma Lazarus, The New Colossus
I have heard grumbling from some genetic counselors that they are upset by the lack of a strong voice and policy action from NSGC. They want to know just where their professional organization stands on these issues and how it will support its members and the patients they serve during these tumultuous times. NSGC claims to be committed to DEI issues, and this is a test of the organization’s sincerity and willingness to fight for their principles. The grumbling genetic counselors may have a point.
On the left is a political cartoon from 1903; on the right is a political cartoon from The Chattanooga Times from 2010.
Of course, all these policies and Executive Orders affect the care genetic counselors can provide to our patients, who will suffer the most. I will take up the topic of the impact on patients in the next week or so in Part 2.
This Friday, March 14th at 4 PM EST, several genetic counselors are independently organizing a mutual support zoom call for genetic counselors to share in a safe and supportive space their stress, anger, frustration, views, anxieties and whatever other emotions they are experiencing as a result of the Trump insanity. If you are interested in attending (no participation required), contact Jehannine (J9) Austin (jehannine.austin@ubc.edu) or Kate Wilson (kate.genetics@gmail.com) or if you are on BlueSky, Naomi Wagner (@naomi-cgc-bsky.social).
In a previous posting I suggested some actions and organizations that genetic counselors can consider doing or joining if they feel the need to fight back in some way. Jill Fonda Allen has since offered one other organization to consider getting involved with – Indivisible, which, per their website is “a grassroots movement of thousands of local Indivisible groups with a mission to elect progressive leaders, rebuild our democracy, and defeat the Trump agenda.”Thank you, Jill.
Let me start by saying that I am not sure yet about what genetic counselors should be doing to fight the racist, vile, despicable, UnChristian/unMuslim/unJewish/unEvery Other Religion-In-The-World policies, actions, and statements of the Trump administration. I do know that we should not be cowering quietly in the corner, overwhelmed by the crap coming out of the bowels of (F)Elon Musk and PINO Trump (President In Name Only) in peristaltic waves. I have been thinking about this for a while and don’t have any really good answers, other than praying for debilitating strokes for those at the top (?bottom?). But I offer some thoughts and suggestions here. Some may be useless or impractical or simply not do-able.
In no particular order, consider these ideas, big and small, both on an individual level and on an organizational level:
Download the 5 Calls app. The group behind this app “research[es] issues, write scripts that clearly articulate a progressive position, figure out the most influential decision-makers, and collect phone numbers for their offices. All you have to do is call.” It provides phone numbers of senators and representatives along with a script about specific topics to read when you leave a voice mail. Calling is probably the most effective way to communicate with your government representatives, more so than letters, postcards, and emails.
Offer individual safe spaces – in person, phone, email, zoom, whatever – for colleagues to confidentially share their anxieties, fears, anger, and other emotions. Sometimes you just need to decompress, so, when appropriate, share comfort food and wine/whisky/beer/cannabis (where legal).
Encourage our professional organizations (NSGC, ASHG, ACMG, and whatever other organizations you belong to) to take a principled stand and boldly and clearly reaffirm their commitment to diversity, equity, and inclusion. Yes, it’s only a statement, and those may not add up to a hill of beans, but at least membership knows where their organizations stand, and offers something concrete to hold them accountable for.
Our professional organizations have lobbyists. Can their services be utilized to lobby representatives?
Our organizations also employ lawyers. Can they guide NSGC et al. to sign on as plaintiffs in relevant law suits against the government, where they might have some legal standing to file, such as those that might involve NIH funding or care of transgender patients? Or at least file amicus briefs?
Can NSGC et al. provide safe spaces, something as simple as zoom chats or webinars, where members simply get the opportunity to share their fears and anxieties, and keep us directly up to date on what actions they are taking? Can participants be anonymized if they so choose, if they are worried about their personal safety?
Have our organizations adopt as their temporary motto in bold capitals on their websites “Fuck Trump and Musk”? Okay, well, maybe that’s a bridge too far. But it would be really cool.
Take to the streets in peaceful massive protests. I do not condone violence of any sort, other than in self-defense. This may involve risking your personal safety, as some Pro-Trumpers now assume they have the clearance to bust a few heads, free from legal sanction. And one could easily imagine the federal government pressuring local law enforcement to deal severely with protesters.
Run for local offices – school boards, town/city councils, whatever – to formulate and fight for respectful, democratic, and decency-affirming policies.
Volunteer for organizations that work to do good in the world.
Write blogposts, letters to the editor, editorials, whatever media, decrying the inhumanity and ignorance of the government’s actions. Use your genetic counseling communication skills that we are alw
Don’t let the bastards get the best of you. Fight’em tooth and nail. Proudly wear our Woke buttons (“I’m Woke – Are You Asleep?”).
If it is financially feasible, donate to organizations that are fighting the good fight.
Event though we don our costumes and capes at work and play Super Heroes fighting for our patients, and even though there are some Marvel Universe villains running the governmental show, remember that each and every one of us is just a human being. Don’t take the weight of the world on your shoulders alone, and don’t emotionally whip yourself if you feel overwhelmed or temporarily defeated. Even The Incredible Hulk has a human core.
I encourage readers to suggest more. We need to do this for ourselves, our colleagues, our patients, and our country. Those genetic counselors who feel vulnerable in their lives and jobs are given a pass here. It’s up to the rest of us to take care of all of us.
Back on January 20th, American democracy and decency began to swalllow a poison pill of its own electoral making. The fallout has been all kinds of horrible, nationally and internationally, except in Moscow where Putin is having a belly laugh because America is doing his dirty work by destroying itself. The US Constitution is being shredded. People who are transgender, gay, non-White, and all the other non-majority varieties of American demographics feel that their very lives are threatened. The employment of every “DEI hire” (racist code word for Black) is on the chopping block. Many of our patients may lose access to health care through Medicaid funding cuts, fear of being deported, or prohibitions of basic medical care for transgender people. We are looking at the potential destruction of the NIH, one of the world’s great research institutions. Genetic counselors employed by the federal government or on government grants may either lose their jobs or be forced to work in an ethically intolerable environment. The terrifying list goes on and on. The over-arching hateful personal message of these policies is “If you ain’t cis-hetero-White, you ain’t right.”
I have nothing original to add to what has already been better said by others about these matters.* Here I want to focus on the implications of the Updated NSGC Guidelines on Pedigree Nomenclature for the passage of the Access To Genetic Counselor Services Act (I am one of the authors of those pedigree guidelines, and incidentally, a minor revision of some of the Tables will soon be published). A small matter in the great scheme of things, but of particular salience to the future of the genetic counseling profession. The financial survival of clinical genetic counselors in the US hinges on being recognized as Medicare providers. This effort has been ongoing for some 20 frustrating years or so but over the last few years we’ve started getting closer to success, fingers crossed.
So why should the new pedigree nomenclature crash those hopes? After all, they are just a bunch of geometric shapes. But we have given meaning to those shapes, meaning which directly clashes with the Executive Edict, er, I mean Order “DEFENDING WOMEN FROM GENDER IDEOLOGY EXTREMISM AND RESTORING BIOLOGICAL TRUTH TO THE FEDERAL GOVERNMENT,” that, based on ignorance and hate, defines sex as follows: “(d) “Female” means a person belonging, at conception, to the sex that produces the large reproductive cell. “Male” means a person belonging, at conception, to the sex that produces the small reproductive cell.” Well, I guess that those of us who were lucky enough to be born with “reproductive cells” are going to have to line up and start getting those reproductive cells measured and compared. I wonder which cells they are going to measure – Sertoli cells? Leydig cells? Spermatids? Uterine cells? Luminal epithelial cells of the uterus? Ovarian thecal cells? All are necessary for reproduction, and all of different sizes. Of course, at conception, no one has any of those cells so I have no idea what these criteria mean. And sex can be categorized by chromosomes, genes, anatomy, or hormonal profiles, all biologically plausible criteria but not uncommonly incongruent.
The head of the US government has made it clear that any definition of sex that, uhh, deviates from this definition is the product of “Woke” ideology and DEI policies (I really don’t know what constitutes Woke ideology – compassion? decency? the teachings of Christ? – but I reckon it’s better than Sleepy ideology). Anyone or any organization that supports Woke ideology is an enemy of the state and will not be tolerated. The pedigree nomenclature, by emphasizing the importance of gender and the subtle shadings of biological sex, is diametrically opposed to US government policy. All the more reason to support the nomenclature, I say.
But what happens if the Access to Genetic Counselor Services Act actually comes up for a vote before Congress? Well, perhaps the most publicly available product of the genetic counseling profession is the pedigree nomenclature. Sure, within the NSGC itself, there are all kinds of policies and initiatives that support DEI, programs that have been met with varying degrees of success and frustration. By and large those are internal, and not openly available to non-members. But as an Open Access article, the pedigree nomenclature is widely available to anyone with Internet access and the nomenclature is the standard for most genetics journals, not just the Journal of Genetic Counseling. More tellingly, the simplicity of those symbols that allows them to effectively communicate complex information also allows them to clearly communicate just how much they contravene the Trumpian concepts of sex and gender, even to someone who has minimal grasp of human biology. I can imagine an NSGC President testifying before Congress about the bill and being asked “So, Current NSGC President, in your organization’s sanctioned pedigree guidelines, I see squares and circles and common sense tells me that those are males and females, respectively. Can you tell me what this diamond symbol is? And what are those funny abbreviations like AFAB mean beneath some of the symbols? Are genetic counselors using geometric symbols to secretly support Woke DEI propaganda? The US government does not support an organization that does not preach biological truth!”
I am not saying that we should publicly reject or downplay the Pedigree Nomenclature Guidelines or NSGC’s DEIJ initiatives. To do so would be an act of moral cowardice, a betrayal of our colleagues and patients, and just plain wrong. We need to fight like hell for them, even if we have to pay a steep professional price. There are more important things in life than Medicare coverage.
Should I stay or should I go now? If I go there will be trouble And if I stay it will be double – From The Clash’s “Should I Stay or Should I Go?“
Working with patients as they make decisions is one of the core components of genetic counseling. It’s not the only thing genetic counselors do, but we sure do it a lot. Some of these decisions are relatively minor while others can be life-changing, irreversible, and have life and death implications. When the decision does not call for an immediate choice, the patient has some breathing room to weigh the situation and work through the cognitive and psychological issues. In other circumstances, there is the added complication of a time-critical decision that must be made within days or hours. But either way, no matter how much we educate, engage, reciprocally engage, or center the patient, making decisions can be gut-wrenchingly difficult.
All genetic counselors have dealt with this in some way. Should I have a cfDNA prenatal screen? Just for aneuploidy or include some of the microdeletions too? If it’s positive, should I have an amnio? I really want that germline breast cancer panel but those results can be awfully scary, or maybe worse, ambiguous. Should I have a unilateral or bilateral mastectomy? Should I subject my child to a new but unproven treatment for a genetic condition when that treatment may have serious side effects and may not even be effective? Should I let my asymptomatic child who carries a low penetrant pathogenic variant for a hereditary cardiomyopathy participate in high intensity sports like crew or kayaking so they can have as normal a childhood as possible?
The genetic counseling literature often talks about informed choices. But after about the first genetic counseling session in your career, you quickly realize that choices involve a lot more than just informing. Complex emotional and psychological matters come in to play as patients process the information and try to figure out what the different options might mean for them, their families, their emotional states, their finances, and their psychological adaptation to their post-decision lives. It’s not simply a matter of weighing pros and cons. It’s more like trying to piece together a jigsaw puzzle when you don’t have a box cover to tell you what the completed puzzle should look like and you only have a limited time to do it in. How do all these damned pieces fit together to create a coherent picture?
The hardest part is that patients just about never know if a decision is good or bad until after they’ve made it. Sure, sometimes (maybe most of the time? I don’t know), decisions turn out to be the “right” one. But there is no way that patients or genetic counselors can predict the future and reassure one another that the particular patient choice will turn out to be for the best, or at least not for the worst. There are just too many unknowns and unknowables. We think we know ourselves but then we are faced with a new reality and suddenly we don’t know ourselves so well. I didn’t think that early menopause would be this bad. I believed I could terminate a pregnancy if I thought the baby had a profoundly serious condition, but now that I know it, I’m not so sure I can go through with a termination. After having watched our mother die of ovarian cancer and supporting me through my breast cancer treatment and decision about having genetic testing, I was sure my two sisters would be relieved to have the genetic information so they could learn their own risks and act accordingly to reduce their risks. Instead they have gone into a psychological tailspin and one of them isn’t even talking to me anymore.
Then there is the matter of people and their values changing over time. This can alter perspectives on whether a decision made years ago was for the best. For example, a patient might have been an atheist but as they’ve gotten older, they’ve found great comfort in Christianity or Islam or whatever faith and now their views are guided by religious beliefs. Or conversely, deeply religious people may lose their faith after witnessing so much cruelty and senseless suffering in the world. A 30 year old may have been dead set against having children and decided to undergo sapling-oophorectomy to reduce their cancer risks but afterwards has a change of heart and regrets having lost the ability to become pregnant. Someone may have been a staunch supporter of abortion for themselves and others but their personal ethics and philosophy have changed over time and they are wracked with guilt because they now feel that abortion is morally wrong.
Unpredictable externalities may also influence how people come to view their decisions over time. Someone might choose an expensive but unproven lifelong treatment for themselves or their children but then lose their job and their health insurance, leading to deep medical debt and perhaps loss of housing, and to top it off, the medical condition has only worsened over time. Someone reluctantly undergoes genetic testing for Huntington disease to establish the risks for their two siblings, and though the patient thinks it was a bad emotional decision for personal reasons, they take comfort in learning that their siblings do not carry the pathogenic triplet repeat expansion. Shortly thereafter, both siblings die in a pandemic after having refused a vaccination. A woman undergoes a risk-reducing saplingo-oophorectomy but winds up with serious and life-threatening post-operative complications.
I’m not trying to push the pessimitic and unhelpful message to patients that they should just give up and flip a coin or turn to a tarot reading because it is impossible to make good decisions. Instead, we need to help them understand that often there may not be a clear-cut best choice at the time they are making the decision. And genetic counselors should feel free to constructively criticize and explore a patient’s choice if it shows they clearly did not understand the underlying technical information or it does not seem to align with their values, while doing our best to filter our our own biases and counter-transference issues. Patients need to recognize that over time they may change their view of whether their decision was the right one or the wrong one or some mix of the two. They don’t have too much control over the future. But we can help them understand that they have done everything they could to make the best possible decision at that time They are decent, compassionate human beings who are just trying to do the best they can in a very complicated world.
Beyond the genetic counseling sphere, the difficulties of decision making arise in all of our everyday lives. Should I take this job or that job? Is this the best person to hire for the job (I swear that, despite all the interviews and glowing letters of recommendation, you never know what somebody is like as a co-worker until you’ve worked with them)? Should I buy this house or that house? Is this the person I want to marry? Are we at the point where divorce is the best option? Should I attend college or learn a trade and become a plumber or an electrician? Should I stay at home to raise my children or continue working and somehow manage to pay for child care? We can’t know the answers to these questions. We can only do our best and not kick ourselves when life doesn’t turn out as we thought it might.
by Smita K. Rao, MBBS, MS, LCGC and Michelle Moore, MS, LCGC
Smita K. Rao, MBBS, MS, LCGC is the past co-chair of the International SIG. Michelle Moore, MS, LCGC is the current co-chair of the J.E.D.I Subcommittee for Lab/Industry SIG
As crowds of newly graduated genetic counselors (GCs) herded through the vast Convention Center in New Orleans for the 43rd National Society of Genetic Counselors (NSGC) Annual Conference in September, a much smaller group of more seasoned GCs instinctively veered toward the Special Interest Group (SIG) pavilion. But the energy of previous years had disappeared – entering the pavilion felt like walking into a middle/high school science fair. SIG leaders or their representatives were assigned specific locations where a sign and some sparse brochures or flyers displayed information. Each SIG presented their best elevator pitch as people walked by to highlight the benefits their SIG could provide. Is this the new face of the SIGs in the world of the Open Access Pass?
In order to understand what the Open Access Pass is and how it came about, some historical background is necessary. SIGs historically have created communities that support the more focused interests of its members. SIG leaders invest volunteer hours to help promote these interests by providing opportunities for further education and research through webinars, social hours, and workshops
In 2021, The Exeter Group’s NSGC Report exposed what many SIG leaders had already been hearing from their membership for years – genetic counselors of color, the LBGTQ+ community, and those with disabilities felt ostracized and unsupported. Being the grassroot factor that connects the Society with its members, the ripple effects of the events of 2020 (the pandemic and social justice movement) brought the discussion of justice, equity, diversity and inclusion (J.E.D.I.) to the doorstep of the SIGs. Many SIGs created their own J.E.D.I. subcommittees and safe spaces to support their members. Social hours and webinars were dedicated to J.E.D.I. initiatives and how personal changes could propel a larger positive shift.
In response to The Exeter Group’s report, NSGC leadership posted a statement of solidarity proposing the formation of a J.E.D.I. task force. But forming a task force takes time and the SIGs continued to plead for support and immediate direction from the NSGC leadership. SIG leaders published a Perspectives article that beautifully communicated the challenges they faced, the resources successfully created thus far, and provided constructive ideas on how NSGC leadership could provide concrete, immediate support to the SIGs. Subsequently NSGC leadership introduced a two-phase response to SIG requests. The first phase dissolved the SIG-led webinar series (where each SIG typically held 6-8 webinars a year as a cost-effective CEU option, at times without a charge) and transitioned to a NSGC-led umbrella webinar series where each SIG could hold only one webinar each year. The CEU fees are now higher for each individual webinar and for the entire series. In the second phase, NSGC created a SIG Task Force to define the role of the SIGs.
Although many felt this two-phase response appeared counter to the suggestions in the Perspectives article, SIG leaders welcomed the opportunity to be a part of the solution. Additionally, some SIGs took independent initiative to create new educational opportunities, such as the Student/New Grad SIG’s Genetic Counselors for Racial Justice (GCRJ) platform. Not all SIGs survived these changes, with some SIGs disbanding, forming another group outside NSGC, or merged with other SIGs. NSGC’s actions led to the creation of the Open Access Pass, which now allows members to pay one fee for access to all SIGs, instead of paying separately for each SIG membership.
The concept of the Open Access Pass is a commendable attempt (and supported unanimously by SIG leaders) to increase inclusion and access. However, when combined with fewer webinars and reduced funding, it has further restricted SIG autonomy. While lowering SIG membership costs decreases the financial burden for some members, it does not help address the larger issue of NSGC membership fees being among the highest in various genetic societies in the nation. Additionally, the Open Access Pass necessitates that all SIG expenditures come out of the NSGC budget with approval from the NSGC Board and other specific subcommittees. This limits each SIG’s ability to fund multiple projects or initiatives. Now SIGs must choose and put forward 1-2 projects in each category of research and special projects for approval to be funded. This new structure reduces the community reach of each SIG as they are unable to support the smaller activities that might have been their focus.
The SIGs have continued to navigate this very tumultuous time of the last four years. Despite mentioning increased participation in SIGs during the State of Society Address at the Annual meeting, volunteerism has been on the decline in the world at large. Although each NSGC member is “involved” in more SIGs, the actual amount of time they can give to each SIG activity is still limited. Many SIGs have noted decreased attendance at SIG meetings and fewer volunteers for SIG projects. The Open Access Pass did not cause this decline, but it compounds an existing trend of reduced volunteerism due to widespread job cuts across the genetic industry in recent years, increasing anxiety and unrest among our members.
NSGC’s J.E.D.I. plan is commendable and proposes critical changes in many segments of its organization. At the State of the Society, we also heard that the Exeter Group released another NSGC report this year. Our organization’s DEI index has gone from a C- to a C grade designation. However, membership still wants projects to be implemented that will impact our members. The SIG experience demonstrates the challenge of balancing the desire to bring about radical change and the multiple barriers to achieving this goal. The new SIG structure is still in its infancy. Only time will tell if these changes bring to fruition an increase in access and equity or continue to lower the individual impact and autonomy of each SIG.
As previous SIG leaders, we are thankful for the significant impact of work we brought about while enjoying the camaraderie in the process of supporting the individual priorities of our SIGs. NSGC leadership must continue their efforts to listen more deeply, to be more transparent, and to execute with more meaningful intent. Learn from other organizations such as the Minority Genetic Professional Network (MGPN), whose warm, personalized efforts at the Annual Conference were hugely refreshing! Diversity and equity exuded from every action, every smile, every hug, every exchange received when entering their room for a bit of respite and recovery. The positive energy of the MGPN reminds us of the original purpose of the SIGs – to be a welcoming, safe space, where J.E.D.I. initiatives are a given and NOT a choice. Equity begins with understanding the needs of our community and providing opportunities for inclusion and connection. These are values and principles that an organization MUST inculcate into every project, committee, and subgroup it fosters. Replace the science fair carousel at the SIG pavilion and assign spaces for SIGs to gather at the conference to celebrate their member communities. Work toward what our members truly need. Dig deeper for meaningful change. Take Action over Talk. Thank you.
By: Rachel Hodan, MS, CGC on behalf of the Advisory Board of the Lauren Ryan Genetic Counselor Assess Memorial Award
Many readers likely knew Lauren Ryan, a beloved genetic counselor, colleague, and friend. Lauren embodied the tenets of genetic counseling in her intellectual curiosity, her work ethic, and her incredible empathy. She was multifaceted (heterogeneous I dare say?). She loved dogs and babies, burritos, and vegan food, could make a snarky comment when needed and she had horribly weak ankles. She once casually stepped off a street corner in San Francisco after we had lunch and ended up with bilateral twisted ankles.
Lauren graduated from the University of Missouri with a BS in Biological Sciences and a minor in leadership and public service. She was in the inaugural class of the California State University Stanislaus Genetic Counselor program and graduated in 2010. She was interested in moving to the Bay Area and energized by being part of something new. She harnessed this “first” mentality when she was hired as the first Genetic Counselor at Color Health, then a small Silicon Valley start-up. She built and managed a team at Color and then took a position at GRAIL in 2021 as a senior manager.
While she built her leadership skills, Lauren’s GC professional work also focused on supporting “any and all initiatives that would build a more diverse and inclusive community and increase equitable access to genetic counseling services”. Those are Lauren’s own words in her application to be a board member of the National Society of Genetic Counselors. She was elected to the NSGC board and was slated to serve starting January 2023. She tragically died in a car accident in December 2022.
Lauren’s list of volunteer positions through NSGC and beyond take up an entire column of her CV, including her incredible work on SIG committees, varied working groups and task forces, and she was recognized as NSGC’s 2021 Outstanding Volunteer Award recipient. She was passionate about supporting GC students and would always give of her time to prospective students for informational interviews or shadowing. Lauren was known for taking students randomly out for a free meal—acknowledgement of the practical needs of a student that may be overlooked. It was this support for students and our own profound personal grief, that led our small advisory group to develop the Lauren Ryan Genetic Counselor Access Memorial Award. The award is housed under NSGC’s non-profit The Genetic Counseling Foundation. The first planned award will be given in Summer 2025 to a rising 2nd year GC student, and we encourage those who are eligible to apply.
Lauren admired the field of genetic counseling, but she was also committed to its growth and improvement. The mission of the award is to increase access to the field of genetic counseling for traditionally underrepresented populations through financial support. We have had tremendous grassroots funding support, but we have not yet met our sustainability goal to allow for ongoing awards. We are achingly close! We would be so grateful if you would consider an individual donation or send us leads on additional corporate sponsorship. Tax-deductible donations to support Lauren’s legacy can be made here.
Any number of her friends could tell a meaningful story about Lauren. Here is one of mine: Lauren was the first person I told when I passed my board exam. Yes, these were the times before you found out immediately. I raced down the hallway to her office at the UCSF Cancer Risk Program and shouted so loud that multiple people came out to see what the emergency was. Lauren was jumping up and down with excitement for me, crying because I was crying, so full of joy and life and support and friendship. She was the best conversationalist you have ever encountered, and an absolute gem of a person. We miss you so much Laur.
Lauren Ryan GC Access Memorial Award Advisory Board
Mary Bloszies MaryAnn Campion, EdD, MS, CGC Elizabeth Duff Carrie Haverty, MS, CGC Carmelina Heydrich, MS, CGC Rachel Hodan, MS, CGC Carla McGruder, MS, CGC Cindy Morgan, MS, CGC Diego Quintero, MS Lily Servais, MS, CGC
‘Lauren was one in a trillion. She was beyond kind, compassionate, loving, and funny. She made everyone she met feel special and that they were worthy of time, attention, love, and taking up space in the universe. She loved animals and babies. She was an excellent dancer. She was incredibly smart and insightful. She was selfless while retaining a strong sense of self. She made the world a better place and she will be missed by everyone who knew her for the rest of their lives.’
“She truly embraced a spirit of inclusion whether meeting a person for the first time or the 100th time….She drew you in and spread her warmth and love.”
“Lauren was one of a kind. She created spark and energy with her very presence in any setting and had a way of drawing out the extra voltage in all of us to do more and live more fully…. If you asked Lauren for a favor, to give a presentation, to attend an event, or just about anything, she unhesitatingly would say “yes!”. In this day and age when everyone is so protective of their time, she magnanimously found time to give and live.”
I am in the midst of watching the Jeux olympiques d’été de 2024 (aka The Paris Olympics, the XXXIII Olympiad), one of the benefits of retirement. As I write this, Rowdy Gaines is narrating a swimming event with his usual infectious and unconstrained enthusiasm (every country has its own Rowdy Gaines equivalent for various sports). Watching the marvelous bodies and performances of these athletes triggered some thoughts about which bodies are or are not allowed to compete. More specifically, I began reflecting on the history of using genetic testing to determine which athletes would be permitted to compete in women’s Olympic sporting events. It’s a tale of how the inappropriate use of genetic testing can have far reaching ethical, political, legal, social justice, sexual bias, and racial bias effects.
There is wide agreement that elite biological male athletes generally have superior physical performances compared to elite biological female athletes in some sports. It is an understatement to say that evaluating athletes to determine if they are “female enough” to compete as women is highly controversial, including among athletes themselves. I am not going to enter that fray here. The problem is that biological sex is more of a spectrum than a duality.* The pegs of our bodies come in many shapes but the sports world – and society at large – tries to squeeze these multiform and at times changing pegs into either square holes or round holes.
They lined us up outside a room where there were three doctors sitting in a row behind desks. You had to go in and pull up your shirt and push down your pants. Then they just looked while you waited for them to confer and decide if you were OK. While I was in line I remember one of the sprinters, a tiny, skinny girl, came out shaking her head back and forth saying. ‘Well, I failed, I didn’t have enough up top. They say I can’t run and I have to go home because I’m not ‘big’ enough.
Genetics entered the picture when the IOC Medical Committee introduced Barr body testing into the mix in the 1960s. In 1949, University of Western Ontario researcher Murray Barr and graduate student Ewart G. Bertram published a paper in Nature in which they demonstrated that, by using a simple staining technique, the chromatin of a cell’s inactive X chromosome in individuals with two X chromosomes could be identified with a microscope. In a methodology that might be ethically questioned by some today, Barr used feline neural cells obtained by brain biopsies of anesthetized cats. As every student of genetics knows, one X chromosome stays active and the remaining X(s) is inactivated in individuals born with more than one X chromosome. And, as every student of genetics knows, Barr body analysis is a less than perfect indicator of biological sex. Nonetheless, the IOC chose to use this analysis to determine who could or couldn’t compete in women’s competitions. It was a relatively easy test to perform at scale using buccal cells or (ouch!) hair bulbs.
Starting with the 1968 Winter Olympics in Grenoble, the IOC randomly tested some female athletes using Barr body analysis and sometimes Y chromosome fluorescence studies. In the 1968 Mexico City games, Mexican geneticists Alfonso León de Garay and Rodolfo Félix Estrada organized a large scale genetic testing program of 1,265 Olympic athletes and perform a wide array of genetic, cytogenetic, and familial studies in an effort to study the determinants of athletic ability. Their analysis included karyotyping but those specific results were not made available so it is unknown if any athletes were disqualified and how many actually underwent sex chromosome studies. By the 1972 Sapporo games, genetic testing of female athletes became mandatory (except for Princess Anne, sister of Queen Elizabeth, who, when she competed in equestrian events in the 1976 Montreal games, was given a pass on undergoing sex testing). Barr body analysis +/- Y chromosome staining continued until 1992, when they were replaced with SRY and/or DYZ1 PCR studies. As with Barr body and Y chromosome studies, SRY and DYZ1 status are also less than perfect predictors of biological sex. Some athletes “passed” Barr body testing in one Olympics only to “fail” the PCR test in a later Olympics. Sometimes you were female, and sometimes you weren’t, depending on the whim of the the rule makers and the available genetic technology.
Official reports of the Olympics used various names to refer to these genetic tests over the years: sex checks, sex control, femininity tests, femininity testing, femininity control, gender verification, gender testing, gender tests, and sex checks. Sometimes names fell into disuse only to resurface years later. This illustrates how changes in language norms often do not follow a straight-line trajectory, as well as confusion about distinctions between sex and gender, and just what it is the rules were trying to get at.
It’s unclear how many individuals were excluded from Olympic participation based on sex verification testing because the IOC didn’t always reveal that information and they wished to protect the confidentiality of the athletes, but apparently very few athletes were actually excluded, even if they “failed” the tests. Of course, some athletes may have been excluded by testing in their home countries before they were allowed to go to the Olympic Games and some Olympians may have quietly bowed out before the start of the Olympics if testing at the Olympics didn’t qualify them as women. By 1999, the IOC abandoned mandatory sex testing.
There are more instances of exclusion based on sex testing in non-Olympic competition, several of which received extensive and at times sensationalized media attention. In particular, some athletes were identified with differences in sexual development , and these athletes continue to pose the most controversial, challenging, and contentious situations for sports regulatory committees, athletes, the media, and the general public. Some intersex athletes were unaware of their conditions prior to testing. It’s tough enough explaining this information within the context of a genetics clinic to someone for whom there was at least a suspicion of an intersex condition. Imagine finding out for the first time just before a major athletic event and then sometimes having that information broadcast around the entire planet. Some athletes experienced serious psychological problems as a result.
Some in the genetics community expressed concerns about the use of these tests almost immediately. The objections raised by Albert de la Chapelle, Malcolm Ferguson-Smith, and the Singapore pediatrician/geneticist Wong Hock Boon, among others, were largely ignored. The Social Issues Committee of the American Society of Human Genetics also issued a report criticizing the use of genetic testing in sports. It’s unclear how much these objections influenced IOC policies. The IOC seemed to react more to social and media pressure than the opinions of physicians and scientists.
The IOC abandoned mandatory sex verification in 1999 and after two decades of changing rules recently produced a more fair-minded and inclusive policy following the Tokyo Olympics in 2021. However, the IOC leaves it up to the governing bodies of individual sports to determine who can compete as a woman. Many of these individual governing bodies use athletes’ testosterone levels to determine eligibility, as does the Women’s National Basketball Association and the National Women’s Soccer League in the US. Thus athletes such as Mokgadi Caster Semenya, Francine Niyonsaba, and Christine Mboma have been identified as intersex, and in some cases have been told they need to to undergo ethically questionable medical interventions such as gonadectomy or testosterone lowering drugs to compete in certain events. This can take deep physical and psychological tolls on interesex and transgender athletes, the ones who probably suffered the most from sex verification testing in athletic competition.
The general justification offered for sex verification testing is to level the competitive playing field. That is understandable and many athletes likely support that general concept. Fair compeition is, after all, why performance enhancing drugs are banned. However it is interesting that genetic testing was only offered for X or Y chromosomal material. There has never been routine testing for autosomal genes, such as some alleles of the EPOR gene, which can give an edge in marathon type sports by allowing the blood to carry more oxygen. The Finnish cross country skier Eero Antero Mäntyranta won 7 medals in 3 Olympics, possibly aided by his diagnosis of primary familial and congenital polycythemia (ironically he later tested positive for amphetamine, a performance enhancing drug). Although all of the genes linked to athletic ability have not been identified and is likely the result a complex interplay of many genetic and environmental factors, I am pretty sure the genomes of LeBron James, Katie Ledecky, Diana Taurasi (one of the most complete basketball players I have ever seen), and Lionel Messi look different than a lot of their competitors’ genomes, not to take anything away from these athletes intensive training regimens. But we don’t classify athletes by genotype – unless of course that genotype is related to biological sex.
The misuse of complex genetic information also occurs in non-athletic situations – MTHFR polymorphism testing, polygenic scores calculated for IVF embryos, ancestry testing to justify white supremacy, to name a few. No matter how hard geneticists try to shape the public conversation about genetics, once the CATG is out of the genetic bag, we have very little control over how it is reported, used, and misused. It plays out in social, political, legal, and ethical landscapes in unpredictable and at times harmful ways. It’s not merely a matter of better education of the public and various authorities. How genetics and other scientific information is used is shaped by prevailing ideologies, politics, and diverse cultural values. And sometimes by narrow-minded hate.
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– My favorite example of the non-duality of life is the green sea slug,Elysia chlorotica. In its juvenile stage it is brown with white spots and looks like, well, a slug. It seeks out specific algae –Vaucheria litorea – for food, and sucks out the algal cell’s contents, including the chloroplasts. The snail no longer needs food at this point, getting all of its energy from photosynthesis via the algal chloroplasts it ingested. Not only that, it transforms its morphology such that it eventually has a slug head but its body color changes to green and looks for all intents and purposes like a leaf, complete with veins. I first learned about E. chlorotica in The Light Eaters, Zoë Schlanger’s fascinating book that will challenge your ideas about plant life. Oh, and by the way, along the lines of trying to define biological sex, a green sea slug produces both sperm and eggs.
Medical geneticists and genetic counselors have an often complicated and at times tense relationship with people with disabilities, their families, advocates, and scholars. Geneticists are strong advocates and supporters for all of their patients, regardless of their abilities and disabilities. Although people with disabilities should not be viewed as a homogenous group with no variation in attitudes and beliefs, a visit to a genetics clinic can make patients feel very “other” when they are analyzed, catalogued, measured, and examined to determine just how different they are, to find out what’s “wrong” with them. Many patients and advocates – though by no means all – view prenatal testing as an existential threat. To better understand this situation, a look at the historical origins of medical genetics can shed some light on this dynamic.
The medical genetics specialty began to cohere and develop in the decades between the 1940s and 1970s. Its roots go back before 1940, mostly in the form of eugenics. The term “medical genetics” was introduced in the early 1930s*, likely independently, by the eugenics-minded Madge Macklin, then at the University of Western Ontario, at the 1932 Third International Congress of Eugenics and in 1931 in the UK by the vehement critic of eugenics Lancelot Hogben in his text Genetics Principles in Medicine and Social Science (although he proposed his own eugenic ideas in the text). But there was no clear cut profession of medical genetics or providers who called themselves genetic counselors in the early decades of the 20th century.
Lancelot Hogben’s text where he introduced the term “medical genetics.”
P. 214 from the Hogben text
Madge Macklin’s paper in which she introduced the term “medical genetics,” apparently independently from Hogben. Presented at the 3rd International Congress on Eugenics, New York City, 1932. Note the first sentence of the last paragraph, which states: “Until the medical practitioner is made aware of heredity as an etiological factor in the production of disease, he will not be apt to have a sympathetic attitude toward public education nor toward any scheme which may be devised to curtail the heavy economic waste of caring for the hereditary defective.”
The formative period for the medical genetics specialty began shortly after WWII ended. The first medical genetics clinics opened their doors in the 1940s and 1950s. The American Society of Human Genetics, the first professional organization for medical and other human geneticists, was established in 1948; its flagship journal, the American Journal of Human Genetics, first began publication in 1949. Accurate human karyotyping,** the primary genetic laboratory test for decades, became available during the 1950s, thanks to the work of Tjio and Levan. Several foundational texts were published, such as Victor McKusick’s Mendelian Inheritance in Man in 1966, Dave Smith’s Recognizable Patterns of Human Malformation in 1970, and Josef Warkany’s Congenital Malformations in 1971. The American Journal of Medical Genetics began publication in 1977. The American Board of Medical Genetics (now the American Board of Medical Genetics and Genomics), the original professional certifying organization for medical geneticists and genetic counselors, was incorporated in 1980. These achievements are hallmarks of a nascent profession working to establish its professional scope and legitimacy. They resulted in the creation of jobs, hospital departments, clinical laboratories, a research tradition, the profession of genetic counseling, and eventually contributed to the expansive growth of prenatal testing and commercial genetic testing laboratories.
Historians of science have offered several explanations for this post-WWII growth, such as increasing sophistication of genetic knowledge, an ethical reckoning with eugenics, advances in medical technology, and epidemics of teratogenically-induced fetal conditions such as fetal rubella syndrome and fetal thalidomide syndrome in the 1950s and 1960s. While these were contributing factors to the formation of the Medical Genetics specialty, I would argue that they were secondary rather than primary factors. Medical genetics was built primarily on the minds and bodies of people with genetic and congenital disabilities. Disability – and social attitudes toward it – was the initial raison d’être for medical genetics and the associated genetic counseling. Of course geneticists saw patients for indications other than disability. For example, a very common reason for referral to genetics clinics was to try to determine the ultimate racial appearance of an infant up for adoption so that it could be placed with a “racially appropriate” family. But the primary clinical focus of the early genetics clinics was the clinical evaluation of people with disabilities. No disability then no medical genetics (or at least a medical genetics that would have looked very different).
How can I make such a claim? Well, during this period there wasn’t much in the way of treatment for most genetic conditions. Instead, geneticists focused on describing the bodies of people with disabilities in painstaking clinical detail. Naming and identifying syndromes and their differences and sub-types. Determining the likelihood of a condition occurring or recurring. Describing anatomical structures that have gone embryologically awry. Measuring the distance between the eyes, the length of the philtrum, the distal phalanges, the head circumference. Noting the angle of the palpebral fissures, the insertion of the ear, the location of the anus relative to the genitalia. Commenting on the presence or absence of a single palmar crease, soft tissue webbing, fifth finger clinodactyly. How the bodies of people with disabilities were dysmorphic, malformed, deformed, and disrupted. In short, how their bodies differed from the “norm.” This gave medical geneticists a common vocabulary with which to communicate with one another, unique clinical skills, and it provided scientific legitimacy to their efforts. It also undoubtedly didn’t make people with disabilities feel good about their bodies. Nor would the stark clinical photographs published in genetics books and journals that sucked the dignity and humanity right out of the patients (often pictured naked and with their eyes blackened out).
This approach to patient care allowed the first waves of medical geneticists to establish their clinical expertise and carve out a professional niche that set them apart from pediatricians, neurologists, and other medical specialists. No other branch of medicine focused so heavily on parsing out human macro- and micro- phenotypic variation. A medical specialty was born.
Every medical specialty has its clinical focus, usually defined by specific diseases or organ systems. Oncologists treat cancer patients. Nephrologists care for patients with kidney disease. Cardiovascular specialists manage patients with heart disease. These patients were regarded as “normal” people with unfortunate diseases that needed to be treated and cured. People with disabilities were regarded as unfortunate people who needed to be prevented, reflecting prevailing social attitudes of this period. The genetic counseling provided during that time echoed these attitudes. Despite disavowals of eugenics, post WWII genetic counseling focused on avoiding the births of disabled bodies.
This is not to imply that medical geneticists during this period were bad people who intentionally and callously used the bodies of people with disabilities for personal and professional gain. These men (and they were almost exclusively males) were for the most part kind and compassionate physicians who cared deeply about their patients and usually treated them with respect and dignity, just like almost every medical geneticist I met throughout my career. Many patients were very grateful for the care they received in medical genetics clinics. It wasn’t a matter of bad physicians providing sub-standard medical care for devious purposes and personal gain. Rather, medical genetics was an outgrowth of the ableist and anti-disability structure of medicine and of society as a whole.
There was of course some level of reciprocity. People with disabilities and their families could benefit from the services provided by medical geneticists. A syndrome name to help end the Diagnostic Odyssey. Anticipatory medical and developmental guidance, referrals to neurologists, surgeons, educators, physical therapists, and other specialists who might treat and care for patients’ often complicated medical issues. A medical home where patients could make sure their often complex medical needs were being tended to and coordinated by a single care provider. An expert authority who could provide education and knowledge about often rare conditions that were beyond the clinical knowledge of pediatricians and other non-genetics providers. But the benefits were asymmetric. Patients and their families came away with perhaps recurrence risks, maybe a syndrome name, and some idea of what their medical and developmental futures might look like. But people with disabilities have managed to survive and live their lives since the dawn of humanity (though now always pleasantly) without the existence of medical geneticists. Medical geneticists, on the other hand, gained an entire profession. They needed the bodies of people with disabilities in order to create careers and a brand new medical specialty.
Medical geneticists today still care for patients with disabilities, though the situation is more nuanced and complex than in the past. Patients are generally treated with greater respect and have greater autonomy. Medical geneticists and genetic counselors have expanded their scope of practice to conditions beyond disability, such as cancer, neurological disorders, cardiovascular diseases, pharmacogenomics, and psychiatric conditions. Social attitudes toward disability are less negative than they once were and this is reflected in the way genetic counseling is provided. Genetic analysis has become more sophisticated. There are more treatment and management options for the health problems associated with genetic conditions, helping some people with disabilities and their families lead richer, healthier, and fuller lives.
Nonetheless, the historical tensions persist. Patients and providers often have different views of what constitutes a disability and what disorders need testing, treating, and curing. The list of conditions amenable to prenatal testing grows exponentially, usually with little or no input from the people and families affected by the conditions. The value of people with disabilities is often still measured in economic terms. Structural, conscious, and unconscious ableism is ubiquitous, even among the most sensitive and supportive providers and institutions. We’ve come a long way, but it’s still a long haul to go.
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* -The Macklin and Hogben references were the earliest I could find on the origin of the term “medical genetics.” If readers are aware of earlier references, please let me know.
** – Human, plant, and drosophila chromosomes had been analyzed since the early decades of the 20th century. However, the crude laboratory techniques did not always allow for accurate analysis or even correct chromosomes counts. The word karyotype was coined by the Soviet plant geneticist Grigory Livitsky around 1930. Like many Soviet geneticists of the Stalin era, Livitsky was arrested and eventually died in a Soviet prison in 1942 after ideological clashes with Stalin’s favored geneticist, the notorious Trofim Lysenko. Lysenko rejected Mendelian genetics and his scientifically misguided agricultural policies led to catastrophic crop failures, widespread famine, and millions of deaths in the Soviet Union and China, which also followed Lysenko’s lead. As with the Covid pandemic, millions of avoidable deaths resulted from a rejection of sound science and research.
In this post, the word “fat” is used intentionally to follow the language of fat advocacy organizations. This is meant to challenge the notion that the word “fat” is inherently bad but rather is a neutral descriptor that describes the bodies of many people. As with other identities, individuals may prefer the use of other terms to describe themselves, in which case it is always best to mirror that language.
Genetics is at the core of many efforts to address the “obesity epidemic.” Genetic tools such as polygenic scores, CRISPR-Cas9 technology, and direct-to-consumer genetic tests share the goal of minimizing fatness. Not only do these efforts ignore the already understood social determinants related to weight and health, but they consistently exclude the perspectives of fat people. Additionally, gene panels designed to identify monogenic causes of obesity raise concerns; while they might be able to provide actionable medical information, the focus should not be exclusively on weight loss.
When we center weight loss as the main mechanism to support one’s health, we reinforce the persistent idea that if someone is fat, they are, by definition, unhealthy, and addressing their weight, therefore, must be a top priority. This can lead to experiences where people’s health concerns are not taken seriously or further explored, perpetuating mistrust in the healthcare system and subpar care. As the genetic counseling profession strives to promote more inclusive and equitable spaces, it is important for us all to reflect on our own biases and minimize over-pathologizing fatness.
Anti-fat bias is pervasive
Fatness is unique in that it is both externally visible and it remains socially acceptable to point out or express dislike for. One’s weight is often attributed to a direct depiction of a person’s character or behavior. Fat people are seen as “lazy” and “lacking willpower,” while thin people are perceived as having “earned” their societal advantage. In her book Hunger, Roxane Gay writes,
“When you’re overweight, your body becomes a matter of public record in many respects. Your body is constantly and prominently on display. People project assumed narratives onto your body and are not at all interested in the truth of your body, whatever that truth might be. Fat, much like skin color, is something you cannot hide, no matter how dark the clothing you wear, or how diligently you avoid horizontal stripes” (page 31).
Media reinforces these beliefs. Popular films and TV shows such as Super Size Me and The Biggest Loser present opportunities for viewers to pass judgment on those who engage in “fattening behaviors” while further solidifying one’s pre-existing belief that thinness is earned by a series of correct decisions. Even in the recently released Wonka, fatness stemming from gluttony, selfishness, and poor morals is used repeatedly as a punchline. News coverage of the so-called “obesity epidemic” is filled with unflattering images of “headless” individuals, often sedentary or eating “unhealthy” food. Imagery such as this works to remove the humanity of people who are fat and further the widespread belief that fatness is simply a result of “bad choices.”
Similar to other forms of oppression, people experience anti-fat bias in many ways. For example, there currently exists no federal protections and very few state protections against weight-related discrimination in the workplace. Fat people are often the subject of undesired critiques of their bodies, typically said under the guise of “caring about their health.” No space may be more dangerous for fat individuals than healthcare, where weight is weaponized against patients by providers claiming to “do no harm.”
While the relationship between health and weight is tenuous, there is a clear relationship between anti-fat bias and adverse health outcomes, including increased stress levels and healthcare avoidance. When individuals seek care, the quality of care they receive is often lower. For example, when seeking cancer screening as a person who is fat, there are many barriers, including providers who will deny services such as a Pap smear based on weight. Additionally, there is a history of the medical system causing harm through the over-prioritization of weight loss. One such example is that of Fen-Phen, a combination weight-loss pill that was eventually recalled due to it causing valvular heart disease.
Increasing accessibility to genetic counseling for patients who are fat
Genetic counselors provide support for individuals navigating healthcare spaces. Even though someone’s weight is not the indication for an appointment, people who are fat do not come to us in a vacuum. Rather, we fit into their broader experience seeking healthcare, which often includes experiences of bias and stigmatization. We must understand these experiences to provide adequate support and mitigate additional harm.
Genetic counselors must examine how to make their practices more inclusive for fat people. Are the chairs narrow and with arms, which may be uncomfortable for someone who is fat? Is there utility in taking the weight of the patients you see for your appointment? How is weight used in cancer risk assessment models? Are you making assumptions about someone’s health-promoting behaviors based on their weight? How do you discuss healthy diet and exercise? How are you discussing and recording no-call cfDNA results, challenges with ultrasonography, or limitations of standard MRIs being able to accommodate some people’s body size?
We also must be mindful of our language. For many fat people, the common-in-healthcare descriptor of “obesity” often evokes a negative response and feels overly medicalized. The term obesity is also a direct reference to the Body Mass Index (BMI), an ineffective predictor of health with racist origins and uses. Similarly, avoiding the use of phrases such as “struggling with their weight” to describe people can help mitigate the idea that being fat is inherently something one struggles with.
For decades now, fears of the “obesity epidemic” have harmfully implied that a person’s fatness is inherently detrimental to society at large. Over time, these ideas become so ubiquitous that people rarely question them. As genetic counselors dedicated to providing unbiased and supportive care to all of our patients, we need to understand the importance of unlearning and reflecting on systems of oppression, and anti-fat bias must not be an exception.
Sarah Wiser, B.S. (she/her) is a second-year genetic counseling student at Boston University Chobanian & Avedisian School of Medicine. Sarah is passionate about promoting equitable access to genetic counseling services and challenging anti-fat bias in healthcare.
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