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.
_______________________________________
– 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.
___________________________________________
* -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.
This spring we will welcome a record number of new genetic counselors to the field. Based on 2022 year Match data from the National Matching Service Inc, we expect >500 new graduates in 2024.* The growing number of graduates is the natural result of more training programs and expanding class sizes in existing programs.
Unfortunately, it seems that this record number of new grads arrive to one of the worst job markets for genetic counselors in many years. Based on conversations I have had with a number of recent or soon-to-be genetic counseling graduates and informal conversations with several genetic counselors involved with training program administration, many new grads are having a hard time finding that first position. It is really tough for job seekers right now.
I am writing this to provide some historical background about why we might be in this position, and where we have so missed the mark in terms of supply and demand. It is my hope that we can learn from these mistakes and make changes as a profession to improve job opportunities, growth and security while also improving genetic services.
I am also writing though because I want to give assurance to all those entering the field in 2024 that it will get better. When I graduated, 20+ years ago I came out of my training program without a job, and I know how devastating and heavy that can feel. The job market has waxed and waned in the past and the pendulum will swing the other way at some point. The reason for my optimism is that, although our current job boards don’t reflect this, I believe that now, more than ever there is a need for the expertise and services that we can provide as genetic counselors. I want to reassure you that you will one day find that perfect job. And I also want you to know that the fact that you don’t yet have a job yet is not your fault.
How did we get here?
Recent history provides context for how we got to this point. Just over a decade ago, three major events rocked the field of clinical genetics:
Although it is hard to believe that there was a time before next generation sequencing (NGS), Sanger sequencing was the standard for many years. NGS allowed for gene sequencing to be done more cost-effectively and around 2010 we started seeing more multigene panels come to the market.
In late 2011 the first prenatal cell-free fetal DNA screening test, MaterniT21, became commercially available through Sequenom. In the years that followed, versions of cfDNA tests were released by multiple companies, creating an intensely competitive commercial landscape.
In June of 2013, Myriad Genetics lost their monopoly on BRCA1 and BRCA2 testing when the U.S. Supreme Court ruled that human genes could not be patented in the landmark case, Association for Molecular Pathology v. Myriad Genetics. This opened an opportunity for many labs to enter the genetic testing market.
All of these factors contributed to an enormous growth of the genetic testing industry and rapid escalation in demand for genetic counselors. The commercialization of the field of genetic testing was unlike anything we had seen before. Genetic testing was front page news and investors were lining up to be a part of it. Labs, flush with venture capital money, created many new job opportunities for genetic counselors.
In some cases, the job creation was very direct, with labs hiring genetic counselors as medical science liaisons, or to work in variant interpretation, product development and direct patient care roles. In other cases, the jobs created were with the telehealth companies labs hired to provide genetic counseling support to providers and patients ordering their brand of test. Additionally, the growing availability of genetic testing and investment in genetic testing technology created jobs in hospitals, clinics and research settings.
By 2015 it was clear that the demand for genetic counselors exceeded the number of trained people to fill the jobs. The following data was presented at the National Society of Genetic Counselors Annual Conference in 2015:
This graph contrasted the number of job postings on the NSGC job board with the number of genetic counselors coming out of training programs. In 2015, we had 291 genetic counseling program graduates compared to 655 job postings.
I am sad to say that this year, with ~500 graduates, there are 44 jobs listed on the NSGC job board at the time of this writing, and about half of these are not listings for genetic counselor jobs. In part, this reflects the fact that companies are not using the NSGC job board as their one and only means of recruitment, but it is also, undeniably, an indication that there are not many open jobs right now.
In 2015, a Workforce Working Group (WFWG) was established comprised of representatives from the American Board of Genetic Counseling (ABGC), the Accreditation Council for Genetic Counseling (ACGC), the Association of Genetic Counseling Program Directors (AGCPD) and the National Society of Genetic Counselors (NSGC). The charges to the WFWG were as follows:
● Identify current and future barriers and opportunities that impact the growth of the CGC workforce.
● Make recommendations to and support the development of specific action items that will facilitate growth of the profession and minimize and/or remove barriers to expansion.
● Drive and coordinate the efforts of the professional genetic counseling organizations to ensure the action items recommended by the working group are carried out in the most efficient and effective manner possible.
The WFWG commissioned a consulting firm, Dobson DaVanzo & Associates, LLC, to conduct a workforce supply and demand projection study of certified genetic counselors in the US over the time period from 2017-2026. This report considered many factors as they attempted to project the future needs and factors that could complicate their estimations.
The report developed two models in which the projected need for genetic counselors was 1 per 100K or 1 per 75K population and they projected we would reach equilibrium for the 1 per 100K model by 2026. While the workforce study recommended expanding existing training programs and developing new programs, they warned, “activities around this initiative will be focused on accelerating growth, while being mindful of not overreaching and exceeding demand.”
The report also raised concern regarding a “substitution effect” which was defined as other healthcare providers providing genetic counseling to patients. Additionally, the Dobson DaVanzo report also cautioned, “policies that restrict reimbursement to direct patient care by certified genetic counselors who are not affiliated with a commercial laboratory would likely reduce the effective demand for care, while at the same time reducing the ability of providers to meet patient need.”
This workforce report provided guidance on the importance of cautious growth with the caveat that it was an uncertain and rapidly changing landscape. The current situation has left me questioning if our profession considered this report in full as we have grown our workforce?
We met the Dobson & DaVanzo report’s projection of ~6.5K certified genetic counselors in March of 2023, more than 3 years ahead of schedule, and we continue to have more genetic counselors graduating from training programs than ever before. It does not appear to me that we have been “mindful of not overreaching and exceeding demand.” Of the 55 programs listed on the ACGC website, 14 are designated “new accredited programs”, and there are an additional 6 applications for programs in the works.
The substitution effect was defined by Dobson & DaVanzo as non-genetic counselors doing genetic counselors’ work. For the most part, we have not seen nurse practitioners, physician’s assistants or other providers stepping in to do the work of genetic counselors. From my view, what we have seen is that we are increasingly substituting ourselves. Let me explain. The labs understand that to compete in this market, it is essential to package genetic counseling with genetic testing. I see the labs going to providers who are neither equipped to nor interested in doing the counseling themselves, and offering complimentary genetic counseling as a perk for those ordering their brand of testing. The problem is, in many cases, genetic counseling provided gratis by a laboratory is not comparable to what would have been provided by a non-lab-affiliated genetic counselor in a clinical setting. The patient may get a message through a portal that tells them they can schedule a genetic counseling appointment. They may talk with a genetic counselor by phone for a few minutes to review results. What they rarely receive in these encounters is the comprehensive genetic counseling care that was factored into this workforce study. At this point, many providers and patients believe that this test-bundled follow-up care is standard genetic counseling. And, used to getting it for free, many providers and healthcare systems are now unwilling to pay what it costs to have genetic counselors on staff.
As important as it is, our profession has largely ignored the issue of how we are paid. This not only affects our job prospects, it affects the level of care we are able to offer to our patients.
The genetic testing lab bubble that began around 2013 created jobs funded by easy access to business loans and venture capital. Labs could use their huge investor funds to pay nice salaries to genetic counselors even when their companies were losing millions (and in many cases, hundreds of millions of dollars a year). The workforce study was developed at the time of this bubble and did not take into account the possibility that this job creation was unsustainable. Now, the VC bubble is deflating. After a decade of sustained and significant losses, investors are no longer willing to keep these labs going without return on their investment. Borrowing money has also become increasingly expensive and difficult. As a result, we are seeing labs retrench, close or be absorbed by competitors, with resultant layoffs of genetic counselors. And with many in our field looking for work, we have yet to reckon with the fact that we still don’t have a viable and sustainable funding model for genetic counseling services – in large part because fair reimbursement is difficult to demand when some version of genetic counseling services have so often been given away for free.
Another bit of history, and one the WFWG could not have factored in, was a global pandemic. Undoubtedly COVID-19 disrupted healthcare in ways that affected genetic counselors. As to the big picture, I think one important issue connected to the pandemic has been some of the financial challenges faced by many industries. For example the interest rate hikes, which have been a tool used to try to curb inflation has made funding more expensive and difficult to secure. The timing of this is unfortunate given the recent position of the labs. However, this does not change the fact that growing a profession on the basis of borrowed funds and start-up investors put us in a precarious place even without the added financial challenges brought on by the pandemic.
What comes next?
Given all that has changed over the last decade, and because we are nearly at the end of the period that the Dobson DaVanzo study had projected, I hope the WFWG has plans for another workforce study. Our profession is in need of an updated analysis of workforce issues.
Until we find a way to fund genetic counseling positions that does not rely on the house of cards that is laboratory funding, we should be mindful that our program growth does not outstrip the job opportunities for our newest colleagues.
The rapid growth in training programs suggests that the institutions involved looked at the rosy growth projections and ignored the recommendation to proceed with caution. Between the challenging job market and the difficulty securing clinical training sites for students, I imagine many involved in training programs are alarmed. While we have added many training slots, the program I attended, at Brandeis University, closed at the end of 2022 because there weren’t enough clinical training sites to serve the number of enrolled students the school required to cover the costs of maintaining the program. More programs may soon be facing tough decisions like this. One program director I spoke with shared, “many programs do not receive any state funding which means they have to run completely on tuition dollars. Even one student difference can break a budget that relies on those tuition dollars and may result in a program closing.”
In addition to considering carefully the growth of our profession through the training programs it is imperative that we all continue to advocate for fair reimbursement. The work we do as genetic counselors is valuable and crucial to the ethical practice of genetic healthcare, now more than ever. And I expect the need will only grow from here. But, we risk not being able to be in these roles, providing care and expert guidance if we do not first ensure that we have sustainable reimbursement for our services. Every single one of us needs to advocate for the “The Access to Genetic Counselor Services Act” so that genetic counselors are recognized by Medicare and can be reimbursed for the services we provide. This is everything. Have you contacted yourrepresentative?
I also hope we can mobilize as a profession to advocate for comprehensive standards of care in our work as genetic counselors. We should reflect on the recent challenges and disruptions we have seen in the field and consider how we are defining the practice of genetic counseling. If we continue to allow the profit motives of the labs to push us to act more as genetic testing facilitators, we will have an increasingly difficult time sustaining our ability to provide comprehensive genetic counseling and support.
Lastly I would like to send a message to all of the new and soon to be graduates who do not yet have jobs secured. Please don’t lose hope. You are the future of our profession, and we need you to help move us and genetic services forward for the better.
*The original version of this article stated, “A report published in 2022 by the Accreditation Council for Genetic Counseling (ACGC) indicates that ~800 genetic counselors will complete their training at the 55 accredited training programs.” and referenced the following report: https://www.gceducation.org/wp-content/uploads/2023/06/ACGC_2022_AnnualReport.pdf This was changed to reflect data from the National Matching Services Inc statistics, which reported that 547 applicants matched with a GC program in 2022.
A guest post by Ambreen Khan and Kimberly Zayhowski
Normative standards of professionalism dictate that a professional should remain apolitical, positing that separating personal beliefs from professional endeavors allows one to maintain objectivity. The enforcement of these standards is increasingly evident in genetic counseling spaces, such as with censorship in workplace meetings, on discussion forums and social media, and at conferences.
However, remaining apolitical grows complex given the politicization of everyone’s identities and personhood. The intertwining of personal, political, and professional realms is undeniable, often operating subconsciously. Operating in a makeshift bubble of neutrality disconnects us from the lived realities of our colleagues and the patients we strive to serve.
Eugenics underpinnings in genetic counseling
The roots of the genetic counseling profession are entangled with a history steeped in eugenics, a movement advocating for selective breeding to enhance the human population by using erroneous assumptions about genetics shaped primarily by social, political and personal biases of its supporters. Originating in the late 19th century, eugenics principles guided the atrocities committed during Nazi Germany’s reign, heavily shaped by American eugenicists like Charles Davenport and studies from the Eugenics Record Office at Cold Spring Harbor Laboratory. The historical justification of eugenics to forcibly sterilize, criminalize, and perpetrate genocide against minoritized communities has been rooted in the misappropriation of genetic and medical concepts. Therefore, dismissing the importance of politics in the field of genetics is a fallacy.
Genetic counseling’s origins can be traced back to the ethically fraught ideology of breeding out those considered less “desirable.” The justification for establishing and funding the first genetic counseling program suggested that genetic counseling serves as a strategy to mitigate hereditary diseases and encourage individuals to make informed decisions regarding reproduction, both for their own well-being and that of the broader population.
Despite the prevailing belief among genetic counselors that we are staunchly anti-eugenics, traces of eugenic ideology persist within certain aspects of our practice, aligning with broader political and power structures. This is exemplified by the recent NSGC Practice Guidelines suggesting the use of expanded carrier screenings as a means for downstream cost-savings through the prevention of births of individuals with certain genetic conditions.
Moreover, genetic counselors’ desire for absolute neutrality ties closely with the need to adopt a non-directive approach with patients, obscuring the intrinsically directive nature of everything said and done in patient interactions. This connectioncan be traced back to post-WWII geneticists’ efforts to distance themselves from eugenics, despite perpetuating comparable ideologies under the guise of neutrality. The norm to remain apolitical perpetuates self-censorship, impeding the field’s ability to openly confront its connections with eugenics.
The impossibility of neutrality
Acknowledging personal political beliefs becomes a crucial aspect of a genetic counselor’s professional journey and our interactions with colleagues. As Lewis Wallace, a transgender reporter, asserts in his piece titled “Objectivity Is Dead And I’m Okay With It,” neutrality is not real, particularly for people with marginalized identities who cannot remain neutral or centrist in debates concerning their own humanity. Hence, the structures demanding neutrality in the face of oppression must be challenged.
Numerous contemporary policies, such as those regarding immigration, disability and reproductive rights, racial justice, education, LGBTQIA+ rights, colonialism, imperialism, and more, directly impact how we show up in our professional lives. Policies can impede our capacity to pursue a career, such as when they impact visa status, restrict access to safe and inclusive work environments, or perpetuate discriminatory practices such as anti-transgender legislation.
The politicization of religious and ethnic identities to justify violence exposes individuals to bigotry, threatening their safety and sense of belonging. Politics can profoundly affect mental and physical well-being, as evidenced by US-funded genocide in Gaza and settler colonial violence in the occupied West Bank, leading to distress and safety concerns among Palestinian genetic counselors as well as allies that speak out against these atrocities. In such instances, neutrality serves oppressors, demanding marginalized individuals to suppress their emotions and well-being to conform to “professionalism” standards, which expect silence amid oppression.
The burden of representation and palatability
Standards of professionalism carry oppressive ideologies favoring white supremacy. Professionalism traditionally reflects the cultural norms, behaviors, and traits of the dominant social group, often represented by straight, cisgender, non-disabled white men in the broader field of medicine in the US, or women in genetic counseling. Consequently, professionalism tends to be assessed primarily among those who are racially minoritized, queer, gender-diverse, and disabled. An expectation of professionalism entails the ability to collaborate with others – even if those people say and do awful things. This creates an environment of dealing with microaggressions and discrimination quietly and laying low when witnessing bigoted conversations.
In navigating political dynamics, genetic counselors often encounter challenges with colleagues tied to respectability politics, a phenomenon where individuals from marginalized groups feel compelled to conform to mainstream expectations to gain social acceptance. Additionally, the pitfalls of “whataboutisms” arise, deflecting from the core issues at hand by pointing to separate problems or situations. This tactic often undermines meaningful discussions about systemic problems, diverting attention from the pressing need for change.
The pursuit of “palatability” within diversity, equity, and inclusion work can paradoxically prioritize the comfort of the oppressor over meaningful progress. Efforts to make conversations or initiatives more palatable risk diluting the urgency and discomfort inherent in addressing systemic issues. Individuals with minoritized identities often find themselves assuming the role of ambassadors for their communities. As they navigate professional spaces, they become de facto representatives, sharing the responsibility of dispelling stereotypes and fostering understanding. This burden is a consequence of existing in spaces where diversity is limited.
Integrating our personal, political, and professional selves
True progress in social justice work demands confronting challenging truths, dismantling entrenched power structures, and prioritizing the voices of marginalized communities over the comfort of those with privilege. Achieving this necessitates a deep understanding of one’s own privileges through an intersectional lens.
Without reflecting on the underlying reasons that necessitate our need to maintain objectivity while upholding the status quo, genetic counselors jeopardize their ability to engage in nuanced conversations with colleagues and patients. Staying engaged in global affairs is essential for genetic counselors to confront their personal biases and improve patient care.
Trusting ourselves and our colleagues to bring their authentic, political selves to professional spaces promotes meaningful dialogue and mutual understanding. The myth of apolitical neutrality acts as a barrier to recognizing the complexity of human experiences among colleagues and within ourselves. As we navigate the paradox of remaining apolitical in a world where identities are inherently political, genetic counselors must consistently question the root cause of their need for neutrality.
The opinions expressed in this article are solely our own and do not reflect the views and opinions of our employers.
Authors:
*Ambreen Khan, MS, CGC (she/her) works as a laboratory genetic counselor and a grassroots community organizer. A bilingual Muslim individual of Pakistani descent, Ambreen follows her passion of increasing access to equitable genetic services locally and globally, through educational talks, social media content, and research.
*Kimberly Zayhowski, MS, CGC (she/her) works as an assistant professor and research genetic counselor. A queer and multiracial individual, Kim is dedicated to advocating against oppression in genetic counseling research, education, and practice.
*Names in alphabetical order. These authors have contributed equally to this work.
The DNA Exchange 