ACMG Carrier Screening Guidelines: Falling Short On Equity and Inclusion

by Katie Stoll and Robert Resta

The American College of Medical Genetics and Genomics (ACMG) recently published a new Clinical Practice Resource that they proclaim recommends an “equitable approach for offering carrier screening to all individuals during pregnancy or preconception.”

We recognize the drawbacks of a screening program based solely on reported ancestry or ethnicity. And we understand that ensuring the same standard of carrier screening is available to all patients regardless of race or ethnic background addresses an important equity concern. However, the ACMG guidelines fall short in several areas: 

  • Addressing the benefits of carrier screening
  • Questionable criteria for determining the severity of the included conditions
  • A limited definition of inclusivity
  • What choice patients should have in which conditions are or are not included in their personal screening.

The ACMG guidance is broad, calling for offering sequence-based population carrier screening for 113 genetic conditions to all patients who are pregnant or considering pregnancy. The rationale for expanded carrier screening according to the guideline is to allow for informed reproductive decisions. Specifically ACMG states that “reproductive decision making is the established metric for clinical utility of population-based carrier screening.” 

Five reproductive options are described in the guidelines: 1) In vitro fertilization with preimplantation genetic testing for monogenic conditions 2) Use of donor gamete/embryo, 3) Adoption 4) Prenatal diagnosis using chorionic villus sampling or amniocentesis followed by a decision to either prepare for an affected child including special care after birth or to terminate the pregnancy. 5) A decision not to have children. We would add a sixth option –  choice of reproductive partner, though perhaps this is more likely in situations of arranged marriages, such as with the Dor Yeshorim program.

Of these potential options, only one – prenatal diagnosis – is an option for those who undergo carrier testing during pregnancy, a fairly common occurrence. For most of the 100+ conditions included in the list, there is at best sparse evidence that prenatal preparation offers concrete medical benefits or that such knowledge enhances emotional preparation and psychological adaptation to having a child with one of these conditions. For a significant portion of patients who participate in carrier screening – those who are screened while pregnant – the only immediate benefits are either pregnancy termination or carrying to term. Therefore, the guidelines should also strongly recommend research into the specific ways that prenatal knowledge of any condition included in the panel either do or don’t enhance obstetric/neonatal management and/or parental emotional preparation and adaptation to having a child with the condition. Particularly for parents who would not consider termination or alternative reproductive pathways, we should be able to offer compelling evidence that carrier screening has measurable benefits for them and for their children if we are to claim that preparation is a benefit of screening.

ACMG states that they used “published definitions”’ to define the severity of genetic conditions considered for inclusion. The published definitions they are referring to come from one single study, published by Counsyl (now Myriad Genetics), a lab that was among the first to offer expanded carrier screening. In this study conducted in 2013, Counsyl surveyed people for whom they had emails in their internal database (presumably customers and/or staff) and asked respondents to provide their ratings of severity for five conditions that they felt represented a spectrum of health and developmental concerns. The outcome was responses from 192 genetic counselors and physicians. The opinions of these respondents is what ACMG is basing  recommendations for a mass population carrier screening program. 

The Counsyl study grouped severity into the following categories:

  1. Profound: shortened lifespan during infancy or childhood, intellectual disability; 
  2. Severe: death in early adulthood, impaired mobility or a [disabling] malformation involving an internal organ; 
  3. Moderate: neurosensory impairment, immune deficiency or cancer, mental illness, dysmorphic features. 

It is concerning that this study puts conditions that are associated with intellectual disability in the same group as those that are associated with death in infancy/early childhood. Also, if we look across the lifespan, many, if not most of us will experience some features that could be counted in the Severe and/or Moderate buckets. 

We cannot assume that this limited survey of healthcare providers is representative of the viewpoints of the US population. This survey did not include the perspectives of people who themselves have lived experience with the conditions included on the ACMG panel, or even people outside of the medical genetics community.

A condition that comes up frequently with expanded carrier screening is related to GJB2-related DFNB1 nonsyndromic hearing loss. GJB2 is included on the recommended ACMG panel on the basis of population frequency (second only to CFTR on the basis of current US-wide population frequencies) and in that it is considered of “moderate” severity based on the Counsyl study. Many in the Deaf community do not consider hearing loss a disability or disease, and we imagine many people who are homozygous for GJB2 mutations would not classify their hearing loss as a moderately severe condition.

We need to recognize that as much as we might try to avoid bringing our own biases into the way we counsel patients, or how we define the severity of a condition, the mere act of offering a prenatal test is not value neutral. There are negative associations implied for any condition we are including on a prenatal testing panel that by definition has a clinical utility metric of influencing reproductive decisions. We need to recognize our responsibility in that it is us in the medical genetics community who determine what is included on genetic screens, and we are also who defines what these conditions are in how we describe them to patients (be that in how we write a summary on a lab report or counsel people in clinic).

Stakeholder perspectives beyond the genetics community should be involved in development of these guidelines including what is included on screening panels and how we define these conditions for our patients. Perspectives from people with intellectual disabilities, the Deaf community and those living with cystic fibrosis, sickle cell anemia, spinal muscular atrophy, and other conditions being considered for inclusion on a carrier panel should have their voices included.

ACMG has been called to task previously on the issue of not including patient voices in the development of guidelines; see Nothing About Us Without Us: Guidelines for Genetic Testing.  And the National Council on Disability specifically recommended that “Professional standards of care for offering NIPS and other prenatal genetic tests should be established through consensus negotiations that include genetic counselors, obstetrics and gynecology care providers, and representatives from affected disability communities.”

Another concern not addressed in the guidelines is whether patients have a choice to not include certain conditions in a screen. For example, someone may wish not to screen for a specific condition given historical negative experiences of racial stigma and bias (see this interview and article to learn more about  problems encountered when carrier testing for sickle cell was introduced in the 1970s). Someone may wish to limit screening only to conditions for which we have a high degree of certainty of outcome, or only to conditions for which death in infancy/childhood is expected and for which there are no effective treatments. As Lisa Dive and Ainsely Newson point out in a recent thoughtful paper on reproductive carrier screening, some may find screening for life-limiting conditions to be acceptable and prefer not to screen for all conditions on a panel. If the goal of carrier screening is to support informed and autonomous choices, patients should be able to decide what is included on their screening.  

Concerns regarding how conditions were defined and about the lack of diverse stakeholder perspectives, including those with disabilities and genetic conditions, were raised with ACMG during the development of this guideline and no actions were taken to address them. In ACMG’s email announcement to members about the new Practice Resource, lead author Anthony R. Gregg, MD, MBA was quoted as saying, “The benefits of carrier screening are clear. The greatest benefits can be achieved by accepting the challenge that all women be offered carrier screening not during pregnancy, but as they move from being pediatric patients to patients requiring well-women care. Professional organizations must respond to this call.” At the same time, ACMG is pushing state legislatures to not allow genetic counselors to order genetic testing. For many patients, genetic counselors are a common point of contact in preconception planning and during pregnancy. It is hard to see how such a policy enhances equity and access to testing if a genetic counselor cannot order a genetic test.

We will be waiting to see how professional organizations respond to this call. While it is too late for change to come with ACMG’s publication, other professional organizations including the American College of Obstetricians and Gynecologists (ACOG) and the National Society of Genetic Counselors (NSGC) can do better and demonstrate a genuine commitment to advancing equity and inclusion for all people by including diverse stakeholder voices, including those with genetic conditions and disabilities, in the development of guidelines related to carrier screening.  

As the healthcare providers charged with the responsibility of guiding care, it is imperative that we do the important work of inviting all marginalized stakeholder populations to the table, hear their concerns, and address them before releasing guidelines that shape policies that will affect all of us. Equity extends beyond access to health services. As explained by Dr. Richard Besser at the Robert Wood Johnson Foundation:

Health equity cannot be achieved without actual lived experiences informing and advancing policies, regulations, laws and initiatives that address disability rights, accessibility and inclusion.

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Not Ready to Make Nice: Juggling unabashed advocacy and NSGC’s insidious culture of “nice”

Jordan Brown, MA, MS, CGC

All sentiments expressed in the essay below are completely my own and do not represent the opinions of either The Ohio State University or the National Society of Genetic Counselors (NSGC).

This essay was initially intended as a blog post for NSGC Perspectives.*

Reacting to the recent Ohio and Arizona legislative “reason bans” which prohibit abortion based on prenatal diagnosis, many of my colleagues and members of NSGC wrote to the Board about the need for the organization to respond to these developments. After multiple conversations, NSGC Leadership asked me to write a piece explaining to members that it is okay to be an unabashed advocate as an individual genetic counselor (and not under the NSGC umbrella) and that advocacy via NSGC does not need to be the only avenue through which to voice opinions and support change.

I agreed to this task in the moment, seeing it as a way to reach members and encourage participation in ongoing efforts focused on increasing access to reproductive care. But when I sat down to write, I could not do it without feeling like I’m directly supporting a culture of “nice” in our organization – in other words, a culture of being complacent and biting one’s tongue when disagreements exist. Although this culture of “nice” is not something that is unique to (the lack of) advocacy efforts around reproductive issues, I think it is especially highlighted in this sphere.

In my first year as a NSGC member, I applied for and was selected to serve on the Public Policy Committee (PPC) and thought I had found my niche. Did I know exactly what the committee did? Nope, but I was filled with optimism that this role would permit me to be involved in hard, meaningful conversations about policy-related issues with my colleagues. This was particularly important to me when considering our organization’s position on reproductive justice, and specifically regarding abortion. I was surprised to learn that the role and responsibility of the PPC was really limited to revision and reaffirmation of existing position statements, most of which, however relevant and important to our profession, tread very lightly on issues which can be perceived as “political,” such as social and reproductive justice concerns.

Throughout my time as a PPC member, I noticed a lingering sense of frustration that the committee was consistently instructed not to raise issues related to NSGC’s stance on reproductive freedom and abortion. We had a position statement on “Reproductive Freedom” that was initially composed in 2014 and reaffirmed with no edits in 2017 after an attempted revision was quashed. Is the position statement well written? Sure. Does it acknowledge the importance of autonomy in reproductive decision making? Yes. It is an adequate statement, and that is about it. It has just enough substance to be able to say we have a statement, but not enough substance to be truly meaningful or actionable in any way, shape, or form.

Conversations about whether the Reproductive Freedom statement should be reaffirmed or revised ultimately culminated in the decision, year after year, to leave the unedited 2014 statement off the PPC’s working docket. Each time, the justification for this was that any controversial moves might jeopardize the passage of our federal bill. In 2021, as I transitioned to PPC leadership, it quickly became apparent that much of the feedback was coming directly from NSGC’s [unelected] lobbyist. I will not lie, it would be easy at this point to let my emotions take over. Actually, I am going to let them take over for a second. The mansplaining emails, the gas-lighting, the rude political comments at conferences, and the long-standing bizarre seemingly patriarchal power dynamic with NSGC Leadership all feels icky and gross.

However, this is something much bigger than personal feelings. The culture of “nice” is, and historically has been, pervasive in our profession. Sure, I understand that not everyone is up for a fight. This is not about excluding or devaluing our colleagues whose personal values and convictions do not align. This is not about picking sides. It is okay for genetic counselors to not personally support abortion, in fact it is beautiful to have an opinion-diverse organization. What is not okay, however, is for the organization as a whole to place the responsibility of advocacy on the few members who are actually willing to put a target on our backs under the dismissive rhetoric of “abortion is a topic that not all members agree upon.” Additionally, let’s stop displacing the weight of this onto our patients. Obviously, we all want our patients to have autonomy in their reproductive decision-making. This does not just mean abortion; this means access to reproductive healthcare as a whole, and this is integral to our profession regardless of one’s specialty or personal values. Reproductive justice is much, much more than abortion and is inherently intersectional. J in JEDI stands for Justice. If NSGC is outwardly dedicated to JEDI efforts, NSGC must also be outwardly dedicated to reproductive justice.

Frankly, at this point it seems as if many advocacy efforts within NSGC are completely on hold pending the passage of the federal bill. Our bill is important, for so many reasons. While there are other organizations that advocate for other efforts, NSGC is the only one that is advocating for the recognition of genetic counselors by CMS. However, at what point does speaking up about a larger societal injustice (namely, decreased, and in some cases completely restricted access to abortion care) that may come with losing some (or even a lot) of support on the Hill outweigh playing the politics game? For years, members have urged NSGC leadership and the Government Relations team to speak up on the ongoing legislative efforts to decrease access to reproductive health care; to boldly state that we as an organization (whose field [clinical genetics] was born of undeniably eugenics roots) believe it is unquestionably WRONG for forced sterilizations to occur in any circumstance but particularly at the US/Mexico border; and to acknowledge that we cannot have authentic JEDI efforts without including advocating for reproductive justice. At some point, continued silence and non-action is complicity.

Most of our members have ovaries and a uterus. One of every four people with functional ovaries and uterus has an abortion during their lifetime. Do the math. As a genetic counselor who has had an abortion, our organization’s continued silence stings. I have no negative feelings or regrets about having had an abortion, however NSGC’s lack of response on the essential nature of access to abortion care is hurtful. I cannot be the only one feeling this way.

As a middle-class, white, cis-female with access to great healthcare and reasonable understanding about how to navigate the US health system, I had to travel out of state to have a second-trimester abortion. I do not feel that this is the space to discuss the details of my own experience, but I will say that the added stress of jumping through logistical hoops further intensified my own emotions at the time. This is real stuff, and this was all before the recent attention on anti-abortion legislations throughout the country.

I only disclose my own experience to highlight that it is often hard for individuals regardless of race, socioeconomic status, or gender identity to access abortion services and reproductive healthcare in general. For individuals without my resources, the challenges are more acute, and care is often inaccessible. If we are going to say that we, as NSGC, value diversity, equity, inclusion, and justice, then we must advocate for access to reproductive healthcare and abortion services as an organization. We know there is power in numbers, it is far overdue that we utilize that power and use our voice to advocate for both ourselves and the patients we serve.

This essay is surely not what the NSGC Leadership expected when they asked me to write a piece on how to be an advocate outside of NSGC. It goes without saying that you should be able to be an advocate outside of NSGC. There should be no repercussions from the organization for individuals advocating for a better world as they see it, and for taking a stand and being outspoken about injustices pertaining to our profession, the medical community, and society at large. The fact that this would need to be said is problematic in and of itself. Let us disrupt the culture of “nice” within our organization so we can truly be unabashed advocates for ourselves and our patients. 

NSGC’s continued silence on this issue has not and will not go unnoticed. If you feel as though NSGC should take a clear and strong stance on reproductive justice, please consider the following action plan.

  1. Email the Board, and consider encouraging your patient advocates to email the Board. Let them know how important it is to take a firm stand on this issue.
    1. Who do I email?
      1. nsgc@nsgc.org (Attention NSGC Board of Directors)
  1. What do I include in the subject line? (Feel free to copy and paste)
    1. NSGC Advocacy for Abortion Access and Reproductive Healthcare
  1. What do I say? (Feel free to copy and paste)

Dear NSGC Leadership,

As a member of NSGC, I would like to see the organization respond directly to ongoing legislative efforts to decrease access to abortion and to advocate for reproductive healthcare. Our voice as genetic counselors on these issues is long overdue.

Thank you,

Name

  1. Take this two question survey regarding your opinions NSGC’s role in advocating for abortion access and reproductive healthcare.
  2. Advocate outside of NSGC. This list was curated with the help of Katie Sagaser, MS, CGC. The resources and suggestions listed below are just a stepping stone. Do some research regarding ongoing advocacy efforts in your state.
    1. Join the National Network of Abortion Funds (https://abortionfunds.org/) and become a monthly donor.
      1. Consider setting up a recurring donation directly to your local fund.
      1. Consider whether you might be able to support not only your local fund, but also a fund for a region to which you frequently need to refer patients. For example, the DC Abortion Fund and Baltimore Abortion Fund both provide funds to out-of-state patients traveling for abortion care in those areas.
      1. What else can you do to help support your local fund? Do you have some free time in which you could provide transportation to someone who needs a ride to their appointment? Your local fund facilitates that. Do you have a spare bedroom that you could loan to someone who needs to stay overnight before their procedure? Your local fund facilitates that. There are SO many ways to help these local funds (and independent abortion clinics, too) – usually volunteers are needed to help staff helplines, create content on Instagram and Twitter, translate documents into Spanish, and assist with fundraising.
      1. Regarding Arizona specifically: The Abortion Fund of Arizona (https://www.abortionfundofaz.org/) is a NNAF affiliate and a fantastic resource.
    1. Set up a recurring donation to SisterSong (https://www.sistersong.net/), the largest national multi-ethnic Reproductive Justice collective. SisterSong founders and leadership are truly the change makers and who we need to be looking up to in the reproductive justice space.
    1. Regarding Ohio specifically…
      1. Ohio GCs, consider donating your money and/or time to Women Have Options (https://www.womenhaveoptions.org/), which provides financial and practical assistance for abortion services.
      1. Support New Voices for Reproductive Justice (http://www.newvoicespittsburgh.org/), “a social change movement dedicated to the health and well-being of Black women and girls through leadership development, Human Rights and Reproductive Justice.”
      1. Consider referencing OPEN (http://open.osu.edu/) for current educational material and ongoing research on reproductive healthcare policy in the state of Ohio.
      1. See below for information about NARAL Pro-Choice Ohio.
    1. If you are particularly interested in public policy, you might consider joining your local NARAL Pro-Choice America chapter (they exist in CA, CT, GA, MD, MA, MI, MS, NV, NC, OH, OR, VA, WA, and WY).
      1. Sign up to take their volunteer training and join one of their committees – whether you want to ensure reproductive justice in the form of promoting comprehensive sex education in schools, contraceptive access at colleges, menstrual product access to immigrants, or health policy measures as they pertain to reproduction in your state, there is going to be a committee for you.
      1. You do NOT need to reinvent the wheel because there literally are folks whose entire jobs are devoted to this – they just need our time commitment (and usually donations don’t hurt either).
    1. The ACLU has a specific Reproductive Freedom initiative, and on their website you can sign up to donate your time in the form of hosting/organizing events, making calls, and other ways.
    1. Consider donating your time, spiritual energy, and physical presence in the form of being an abortion doula.
    1. Say the word “abortion.” Seriously, say it. Mirroring patient language is important, but the more that we avoid this term in daily life, the more that we add to its stigma. How can you speak more openly about abortion as an important and necessary component of healthcare? Can you perhaps even invite some of these conversations by carrying an “abortion is healthcare” tote bag to the grocery store, or wearing an “abortion is healthcare” mask to the gym?

Be on the lookout for the launch of the GENUINE Collective: Genetics Providers United in Efforts for Reproductive Justice. This Collective will serve as a landing page for advocacy resources and opportunities as well as an open discussion forum for members.

The GENUINE Collective is an independent group of clinical genetics professionals dedicated to shameless advocacy for reproductive justice in the United States of America and beyond.

While persons involved in the Collective may hold memberships in various professional medical societies, the Collective is not, in any way, affiliated with professional medical societies.

*Previously I said NSGC Perspective’s declined to publish this article, NSGC has asked me to retract this statement, I would like to clarify that while I never received a written rejection from NSGC, they did not respond to the submission (after requesting an essay with a quick turnaround time), only responded after author follow-up, and stated that this piece was not in line with the goal of Perspectives.

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Bob has retired. What are the Resta us going to do now?

A few months ago, Robert Resta shared his plans to retire with the DNA Exchange author group. Retirement announcements have felt more bitter than sweet during these strange times of Covid-19 when we cannot gather to recognize the moment and celebrate the incredible careers of our friends and mentors. And what a remarkable career Bob has had. Following completion of his genetic counseling training at UC Irvine in 1983, Bob started work at Swedish Medical Center in Seattle, WA. He worked at Swedish for 37 years, first as the director of genetic counseling in the perinatal clinic and then founding the hereditary cancer clinic in 2006. It is pretty remarkable in this day and age when genetic counselors move jobs so frequently that Bob dedicated nearly four decades to one institution. In addition to counseling thousands of patients over the years, Bob has contributed much to the genetic counseling profession. He was on the editorial board for the Journal of Genetic Counseling for 10 years and Editor-in-Chief from 1995-2001. He has contributed to numerous books and has authored dozens of peer reviewed publications. And, to date, he has authored 117 essays for the DNA Exchange. 

While I had known he had been edging towards retirement for a while now, I had hoped that he would continue to provide his unique form of wisdom on DNA Exchange for years to come. He has said that he doesn’t think he’ll have much to contribute to the blog in his retirement and he encouraged us to think of bringing in new voices to this forum.

Although I wish him the very best in his retirement I hope he might speak up now and then. We have so much more to learn from him. Of course I understand that now that he is no longer working in a clinic, we will not see funny, thought-provoking, touching posts about patient interactions. And he may not keep up with what is happening with this lab or that lab to be able to offer his commentary on changes in the industry and how it is affecting patients.

I have appreciated every piece Bob has written, however what has been most important to me have been those that provide historical perspective. He has a remarkable gift for using a historical lens to provide context for what is happening today. And he has a unique gift for shining a light on even the darkest corners of our profession’s formative years with wit and wisdom that allows us to take in uncomfortable truths. We need to keep reflecting on this history as the field progresses.

If indeed Bob no longer feels inspired to write for the DNA Exchange (or even if he does) it is worthwhile to go back to the DNA Exchange archives and read his prior publications.

Fun Fact: the number one most popular post of all time on the DNA Exchange is, “And Bob’s Your Uncle: A Guide To Defining Great Aunts, Great-Great Grandparents, First Cousins Once-Removed, and Other Kinfolk.” This essay has topped the charts nearly every day since it was published, garnering over 189K views at the time of this post.

Some other fan favorites of Mr. Resta’s posts include:

p + q = Solved, Being the True Story of How the Chromosome Got Its Name

Why “H.R.3235 The Access To Genetic Counselors Services Act” Makes ACMG Feel Threatened By Genetic Counselors (Again)

Facts, Figures and Fictions in Genetic Counseling

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

While many of his short essays provide historical context for genetic counseling he also has several that predict the future of the field. I will admit that I have lost sleep over some of these posts, at least the ones that I dislike his predictions. Perhaps this is because he’s been right so many times. It’s as if he has the power to set our destiny by putting words on the internet.

Work Shift: A (Wrong?) Prediction

Who The Hell Do We Think We Are? 12 Questions About The Future Of Genetic Counseling

Are We There Yet?

Will the DNA Exchange fade away without Bob? If asked, he might predict this would be the case. After all, he has written more than 40% of the content for this blog and has been our steadiest contributor since it was founded in 2009. But despite Bob’s facility for predicting the future, the fate of the DNA Exchange is really in our hands. This is a call to those of you among our genetic counseling who want to contribute and share your unique and diverse perspectives on the field we love. We need to hear from you!

The best tribute we could offer Bob is to help new voices keep alive the forum he helped to build. A new generation of genetic counselors has much to tell us.  I hope that some of you will choose to share those stories here, in the tradition of Bob Resta, the cranky and wonderful sage of genetic counseling. 

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Bias In The Genetic Counseling Profession: Reimagining The Certification Exam

By Sarah Hopkins

Sarah Hopkins, MS, CGC works as a genetic counselor in a bleeding disorder clinic in NYC. She also works as a project coordinator for a COVID19 biobank. On Twitter @SarahGenetics

It has been observed for decades that genetic counseling is an overwhelmingly white profession. The profession has been sensitive to this, and organization leaders have endeavored to eliminate bias and reduce barriers to the field. In particular, it’s been recognized that the Board exam has biased questions. Unlike in nursing or medicine, however, we don’t know whether our Board pass rates vary by ethnicity because those data are not collected.

Standardized testing has disadvantaged people of color in numerous fields of testing since the early 1900s. Among the founders of standardized testing was Princeton psychologist and eugenicist Carl Brigham, who wrote that the SAT would help prove the superiority of the white race and prevent “the infiltration of white blood into the Negro.” Standardized tests helped place US soldiers in units segregated by race and test score. Test scores have repeatedly been shown to predict the test taker’s race and wealth, and not clinical competence. Civil rights lawsuits on behalf of people of color and students with disabilities have challenged the use of standardized testing in undergraduate and graduate admissions, as well as in certification in other professions.

Educational institutions have been dropping the tests, even more so during the pandemic. While Board certification is required by states that grant licensure, and most employers require it, that doesn’t mean the Boards must continue in their current form.

Genetic counselors have devoted years of practice analyses and committee work towards removing bias in Board questions, and yet ethnic stereotyping persists. Racism continues through unconscious and unquestioned assumptions. I just learned from an MTV video, of all places, that the term “Caucasian,” which we genetic counselors are among the last groups to use, is outdated and absurd. The Boards continue to be no more enlightened than I am. The exam I took featured a question with a Chinese American family silently refusing to discuss their shame surrounding a genetic condition.  Another question described an “East Indian family,” a eurocentric term best abandoned along with Caucasian. The East Indian couple features a husband making all the decisions while the wife sits silently. The only woman in the exam who has children with more than one partner is Hispanic. Inherited genetic conditions in the exam are “common in Jewish communities because of arranged marriages.” One question asks about the use of interpreters and assumes you, the genetic counselor, are fluent only in English, and not, say, Mandarin.

Many, if not most genetic counselors are concerned with the lack of diversity in the field, about inequity in recruitment, admission, curriculum, hiring and promotion. We podcast and blog about it, we tweet and post, we meet virtually and in person. But trying to eliminate bias in multiple choice exams ignores the original mistake of using these exams in the first place. We’re rearranging deck chairs on the Titanic.

Multiple choice tests do not lend themselves to the subtlety that is required in clinical practice. Patients don’t present with five choices. If we want to ensure graduates are ready to practice, then we should use open-ended questions. Internist and essayist Danielle Ofri recommends that physician recertification be open-book, and not timed. She argues that open-book tests would mimic real life, that in clinical practice, memorization of facts alone is insufficient. We look things up and consult colleagues. Relying solely on memory, she writes, amounts to malpractice.

Open-ended questions are also preferable to multiple choice because they easily allow for change. We’ll change our minds in one year, five years, ten years about which test to order, how we refer to an ethnic group, the way we approach a diagnosis. Multiple choice tests don’t allow the kind of nimble approach we need as our practice changes. When we cling to a multiple choice exam to confer certification on genetic counselors, we are putting ourselves at the mercy of the testing industry. We are not allowing for inevitable change in a field that changes more quickly than most.

Exam questions could be written by a required number of genetic counselors who are from underrepresented ethnic groups. The Boards could be graded by genetic counselors, using an agreed-upon rubric developed by experts in each area. Graders could be awarded continuing education credits for their work. Pass rates should be reported by ethnic groups, perhaps over a three-year period, to enhance anonymity.

The challenges we face with the pandemic, coupled with the imperative to address systemic racism provide an opening to imagine a new approach to certification. We should dispense with a testing method that has never served our profession well. Next stop: diversifying graduate admissions.

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What A Mess

The single biggest problem in communication is the illusion that it has taken place.   – Apocryphal quote, likely incorrectly attributed to George Bernard Shaw

A South Carolina court recently granted a summary judgment in favor of the defendant in the case of Williams v. Quest Diagnostics, Inc., Athena Diagnostics, Inc,  ADI Diagnostics, Inc.  The ruling is particularly relevant to the genetics profession because it concerns the potential legal implications of the classification of genetic variants.

This legal odyssey began nearly 5 years ago but the clinical story began 14 years ago, and was first reported here on The DNA Exchange. Briefly, Amy Williams, the plaintiff, filed a suit in 2016 on behalf of her deceased son alleging negligence on the part of Athena (now owned by Quest) when in 2007 it classified a variant in the SCN1A gene as a Variant of Uncertain Significance (VUS) in her son who had a seizure disorder. SCN1A pathogenic variants are diagnostic for Dravet syndrome.

Multiple specialists were involved in the child’s care, but it seems from the medical records that none of them were actually aware of the genetic test results. The ordering physician could not recall having seen the report and the treating physicians never received a copy of the report or a communication from the ordering physician about the result, even though a copy of the report is in the medical records. Consequently, her son’s treating physician kept him on carbamazepine, a sodium channel blocker that is contra-indicated in children with Dravet syndrome. Sadly, he died about 6 months later, likely due to the contraindicated medication. Ms. Williams did not find out about the SCN1A result until nearly 7 years after the report was issued, and then only after a genetic counselor who was sifting through the records found a note from 2008 referring to an SCN1A VUS (for a fuller description of this saga, I refer you to the excellent articles written by Turna Ray, a journalist for Genome Web).

The lab’s defense rested on a legal technicality of the statute of limitations. Per South Carolina law, litigation cannot be brought against a healthcare provider if the offense took place more than 3 years prior to the filing. The lab’s lawyers argued, and in 2018 the South Carolina Supreme Court agreed, that a lab qualifies as a healthcare provider under state law. Subsequently, Judge Margaret Seymour, the judge who presided over the original case (and who displayed an excellent grasp of the genetic and legal issues), found that several of the plaintiff’s claims were “comprised of allegations sounding in both medical malpractice and ordinary negligence” and allowed the matter to move to discovery for the purpose of determining what caused Athena’s laboratory staff to misclassify the gene variant. Ms. Williams and her lawyers proceeded with the case based on “claims for wrongful death, survival, negligent misrepresentation, constructive fraud, and violation of the South Carolina Unfair Trade Practices Act.” Following discovery, the defendants requested a summary judgment to dismiss the case (in a summary judgment, either a plaintiff or a defendant can assert that the facts in the case are not in question and ask the judge to make a decision on the case without a full trial). 

Judge Seymour based her decision on the statute of limitations ruling by the South Carolina Supreme Court and the likely inability to prove proximate cause (i.e., that the VUS classification led to continued treatment with carbamazepine which then caused the child’s death), and dismissed the case: “The court concludes that no reasonable jury could find Defendants erred in classifying Decedent’s variant as a VUS, or that any misclassification was the result of nonmedical, administrative, ministerial, or routine care. Defendant’s motion for summary judgment is granted as to this issue.”

In an unfortunately cruel twist, Ms. Williams and her lawyers may owe Quest and its lawyers ~$140,000 in court sanctions imposed after some personal emails and other documents that, in my view likely had little bearing on the facts of the case, were deleted or improperly withheld because of less than stellar legal representation. The defendant’s lawyers offered to drop the costs stemming from sanctions if Ms. Williams agreed not to discuss the case in public forums and to discourage others from doing so. However, she did not agree to the proposal and remains firm in her belief that her son’s story needs to be discussed in public for the benefit of the public and the genetics profession, even in the face of potential financially ruin.

Was Athena’s original variant classification appropriate? Published case reports at the time the interpretation was first issued suggested that the SCN1A variant could be likely pathogenic (that was not the common terminology at the time), one of which was co-authored by Athena staff. Yet comments in the test report state there is an “absence of published studies correlating these variant(s) with clinical presentation and/or pathology.” In April of 2009, 2 years after the report was issued, Athena reclassified the variant as pathogenic, although they cited no new evidence beyond what was available when the report was first issued. Specialists in variant classification, who understand the intricacies of variant classification far better than I do, have weighed in and most have argued that Athena’s original classification of a VUS was appropriate for the knowledge available in 2007. Currently there are two entries for this variant in ClinVar, neither of which make an attempt at classification. I am not about to get into a debate with good scientists who know a heck of a lot more than I do about variant classification. I will say this, though, as someone who orders genetic testing every day, I rely heavily on labs to interpret variants and to let me know when there is in a result that might be grayer than ordinary. Especially in a case where a treatment decision with life and death implications hinges on a test result, I would expect the lab to explain their justification for the interpretation and to have made it clear in writing in the report. A phone call to the ordering provider wouldn’t hurt either, to be sure that the critical information and any uncertainty is clearly communicated.

Just as egregious, Ms. Williams should not have learned of a genetic test result almost 7 years after it was issued, and then only almost incidentally. Nor does it appear that the physicians who cared for the child were aware of the updated classification or communicated it to one another – not surprising, given that they were apparently unaware of the original report. Had she been notified in a timely manner, she may have initiated a discussion of why the variant was classified this way and if the evidence was strong enough to be the basis for treatment decisions. Of course this burden should not be on the patient but it could have offered another opportunity for further exploring treatment decisions based on the result. Many of us in the medical field, including me, have been critical of the requirement of the 21st Century CURES Act to notify patients of test results within 24 hours of when they are ready. My grumbling aside, Amy Williams and her son would have greatly benefited from being notified of her son’s result 24 hours after it were available. Does it have to take an Act of Congress to ensure that healthcare providers are responsible communicators with their patients?

In my view, nothing good came of this case in terms of the reputation of the genetics community, though of course nowhere near as bad as the devastating effects for Amy Williams and her son. To resurrect the line from the Captain’s speech in the movie “Cool Hand Luke“, what we have here is failure to communicate. Basically, a child may have died prematurely because of poor communication between the lab and care providers, between care providers, between care providers and the patient’s mother, and between the lab and the patient’s mother. Everybody lost and nobody won, even if Athena/Quest won from the perspective of not having to pay damages.

Will we now become better at communicating results to patients? Perhaps the CURES Act will help some. But as genetic testing expands well beyond the genetics community, communication about the implications of test results will likely still be deficient in many instances, in part because many non-specialists who order genetic tests are not particularly adept at interpreting them. Furthermore, although it’s hats’ off to ClinVar and other collaborative efforts for classify variants, variant classification will continue to be an Achilles’ heel of genome analysis because there is just no profit in it and it can be so damned complicated. 

I look back on this story and feel a knot in my stomach.

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When Good Genetic Counselors Are Bad Role Models

I will be retiring at the end of this year. In a natural reflex triggered at career’s end, I have been reflecting on my 37+ years as a genetic counselor. Among other things, I have been pondering what traits make for a good genetic counselor, what makes us better or worse at our jobs. So far, I have not come up with brilliant insights that would vastly improve professional practice.

Except maybe this one – we are sometimes not so good at asking for help from one another in our workplaces or saying “No” to more work when our workloads are already overwhelming. We, who are so dedicated to helping others, are not so good at helping ourselves.

Many of us are guilty of this sin to varying degrees and in different ways. Sure I’ll see that last minute add-on at 4:30 today even though I  came in early and had planned on leaving at 3:30. If I come in to the office over the weekend, I can catch up on my dictations. I can’t refuse the last minute ask by my boss for an analysis of clinic data over the last 3 years for a presentation she is giving tomorrow, even though I have a full patient load. That patient has a busy schedule; I told him I would come in an hour early to accommodate his schedule. Or worst of all, coming in to work when you’re sick because “it’s just so busy”; just what the colleagues need, a super-spreader (maybe one good thing that has come out of the awful COVID epidemic is that people may now be more willing to use their PTO when they are sick).

Part of the reason we are so willing to overwork ourselves is that genetic counselors are uniformly compassionate people. We care deeply about our patients and we want to do our best to help them through difficult times. If we didn’t, we would never have made it past the gatekeepers of the profession, the ones who decide who does or doesn’t get admitted to or stay in the training programs. Compassion and empathy were in the vows we took when we wed ourselves to the genetic counseling profession (back in the day, we OGC’s – Original Genetic Counselors – also took a vow of poverty but fortunately nowadays that vow has been dropped from the list).

But I think there is another reason that contributes to our inability to just say no – professional insecurity and professional self-image. Deep down, we like to think of ourselves as superheroes. We don’t want to admit to ourselves that we are not indestructible superheroes capable of withstanding the forces that attack us and test our strength as we fly to the rescue of our patients, or for others to think we are vulnerable. Asking for help is our kryptonite.

 

We worry too that our genetic counseling colleagues will think the less of us if we say to them “You know, I am starting to fall behind in my work. Could someone else see one of my patients today?” Or that we might look less than compassionate if we say to a patient or a referring provider “I would ordinarily squeeze in this last minute referral. But there just isn’t enough room in my schedule today to accommodate your request.” These kinds of responses can gnaw at your image of your professional self and make you feel inferior. After all, you look around and your other colleagues seem pretty busy too but they aren’t saying no to extraordinary demands. Maybe I am not as a good a genetic counselor as they are. So instead, you wind up sucking it up and taking on the extra work.

This is an insidious frame of mind. It contributes to professional burnout and compassion fatigue. After a while, you just can’t take it anymore. Which nearly  happened to me some 5 or 6 years ago when I came within a heartbeat of walking away from the profession. One of my great strengths as a genetic counselor is that I am incredibly efficient. Which is also my great weakness; my ability to get things done led to greater workloads as it seemed that I could absorb nearly any workload. I finally told my boss that either I get more help immediately or I’m outta’ here. A gamble, but it paid off. I got the help I needed lickety-split and today I work with 3 terrific genetic counseling colleagues. I became a more human superhero for having done it.

The problem propagates itself across generations when you realize that we, consciously or unconsciously, are role models for younger counselors and students. They see us burdening ourselves with ridiculous work loads. Even if we tell them to not do as we have done, they subconsciously get the message that this is the way good genetic counselors are supposed to be. They admire us and want to, if not exactly be clones of us, fashion themselves into some approximate image of us based mostly on our actions, not our words. Unfortunately, the role models put up a damned good front.

Sure, some of this stems from management, who unfailingly claim there is a budget crisis and who seem to have an ingrained belief that there is one too many staff around here or that more patients can miraculously be shoehorned into a schedule. That part of the blame is on them and their out-of-clinical-touch mindthink. But a goodly part of the blame is on ourselves. We will never get help if we don’t ask for it. And we can start by asking for help from each other. Even if your colleagues are just as busy and can’t help you out, it becomes an opportunity for everyone to acknowledge or realize that we don’t have to be the Justice League of Genetic Counseling, always ready to save the genetic universe. We are, at the end of the day, imperfect humans trying to make super-human efforts. If we can’t always save the day, we are not failures. If we embrace this, we will be better genetic counselors.

 

On another topic altogether, with the help of Emily Singh I have created a pair of graphics to reinforce the message that masks are symbols of compassion, not repression, and to urge my American readers to vote in the upcoming election. Remember – many superheroes wear masks. This is one way we can help save the world without adding to our workload.

 

 

 

 

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JOAN H. MARKS 

In Memoriam

1929-2020

Of all the pioneers who helped shape the field of genetic counseling, it is likely that no one was more influential than Joan H. Marks, who died on September 14th at the age of 91.  In 1972, when Joan took over the 3-year-old program at Sarah Lawrence College that now bears her name, there was no accrediting body, no national society, no Journal of Genetic Counseling.  She stayed for 26 years, a dominating and charismatic presence, often intimidating, often demanding – a fierce advocate for both genetic counselors and their patients, who she insisted deserved more than a lecture on chromosomes and recessive inheritance.  

When your friends and relatives ask you, as they still do, ‘what is a genetic counselor?’ the answer you provide, whether you know it or not, is an echo of Joan’s vision, distilled in a generation of students who went on to define their roles in workplaces across the country, to found NSGC and ABGC, and to serve as teachers and program directors in their turn, passing along the ethos that remains integral to the field.  

I met Joan when I interviewed at Sarah Lawrence in 1999, when she was very much the eminence grise.  “I imagine you’ll get in,” she said to me, looking over my transcript with a practiced air, and I was thrilled – an excitement that was immediately tempered when she mentioned that she would not be sticking around to educate this new class of genetic counselors.  As a charter member of the post-Joan-Marks generation of Sarah Lawrence alums, I can attest to the lingering effects of her legacy.  

Still, devoted former students have told me over the years that I was unlucky not to have known her better.  No doubt this is true (and no offense to Caroline Lieber, who inherited the mantle at Sarah Lawrence and was a great program director in her own right).  So today I would like to invite all of you who knew Joan Marks as a student or a colleague or a friend to treat this post as a sort of an invitation and add your reminiscences here.  

First up, a lovely tribute form Caroline Lieber herself, who talks about her experience filling some very big shoes in the world of genetic counseling.  I hope that many others will fill the comments.

Joan Marks: One of a kind

Caroline Lieber, MS, CGC Director Emeritus, Sarah Lawrence College Joan H Marks Graduate Program in Human Genetics

I met Joan Marks in February 1978.  My then-boyfriend and I flew to New York and then took the train to the Sarah Lawrence campus, two California kids in New York for the first time.  He waited outside of Morrill House while she and I “talked.”  It felt more like she talked and I listened.  After the interview I said, “I am not sure that went so well….” 

But when I called my parents from South America that July to check-in, my father excitedly said, “You got accepted at Sarah Lawrence!” My boyfriend and I packed our meager belongings and headed east. Two California kids in New York for the second time. We arrived two weeks before classes were scheduled to start.  I was going to be a genetic counselor!

Having been undergraduate genetics major, I was comfortable in the science courses. The psychology courses were a different story.  As our instructor for “Issues in Genetic Counseling,” Joan had us read broadly about ethical concerns, the depth of emotional responses to genetic conditions in families, and articles to help identify counseling techniques and how to use them.  She commented in detail on each paper we wrote.  In one paper I found recently, she pointed out some inconsistencies in my thinking.  She further remarked, “But what’s good is that you see yourself as a counselor and you see how tough it can be. I’d like you to reread what you’ve written carefully and try to be objective-aren’t you inserting some biases here and there?” Her critique was not always welcome, but she always made me reflect on each point she made, and to look at it from another view.  I learned to be more empathic in a tough-love way. I am proud of the genetic counselor I became under her direction.

Fast forward to 1998. I discovered that Joan was planning to retire from Sarah Lawrence. I applied for the director position, and went through rigorous interviews.  I recall the pointed questions, some designed to make the interviewee a bit uncomfortable, as a means of gauging responses to tough situations. Even though she wasn’t in the room, it was clear that Joan was part of the process. Fortunately for me, I was selected.

Following in Joan’s footsteps was daunting.  Those early months felt exciting and overwhelming as I learned a whole new landscape.  Not surprisingly, Joan had very definitive ideas about the future of the program and often wanted to share her thoughts.  As my advisor and mentor, I made a point of responding to her calls and emails, listening to her guidance and counsel.  As it was when I was a student, I was not always in sync with her thoughts, but I learned to incorporate many of her suggestions. As I gained confidence in my role, I learned to trust my instincts and experiences to find my own personality in the position.  When in time, Joan told me that I was doing a good job, letting me know that she approved of my leadership, it meant a great deal to me.

During my tenure as program director, our relationship grew on many levels.  Joan and I grew together professionally as we worked on several commemorative events. When the program was renamed in Joan’s honor, it was a proud day for the college and the Joan H Marks Graduate Program in Human Genetics.  After I moved into New York City, we grew closer personally, sharing life outside of the program.  We met for lunch and talked about some of her other interests, including art and gardening. I got to know her softer side.

Joan Marks was the most committed and passionate advocate for the genetic counseling field that I have ever known.  As Laura Hercher said, “I doubt any other single individual did as much to shape the field.”  She put the profession on the map with style, charm, directness and savvy.  It was my privilege to be her student and mentee.  It was my pleasure to be her friend.

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Orig3n of the Specious

While the world grapples with a global pandemic with enormous cost of lives and livelihoods, some companies are finding an opportunity to make a quick buck from this crisis. One such company is the direct-to-consumer genetic testing company, Orig3n, Inc. DNA Exchange readers may recall that I wrote about Orig3n a couple of years ago when I sent a swab from my dog and tap water from the kitchen sink to Orig3n for their Child Development DNA test. In both cases, Orig3n issued test reports, failing to recognize that they were not human specimens. Given this experience as well as issues raised by numerous others, I was deeply troubled when I learned that the FDA had granted Orig3n accelerated authorization for a nasal swab based RT-PCR Covid-19 test. And unfortunately, I wasn’t surprised when news broke that Orig3n is failing in their Covid-19 testing

Last Friday it was reported that Orig3n miscalled several hundred Covid-19 tests for residents and staff at multiple long term care facilities throughout Massachusetts. Upon retesting by Orig3n and by the Broad Institute, 383 tests have been determined to be false positive. Previously, the Massachusetts Department of Public Health (DPH) specifically recommended Orig3n to long term care facilities and has required rigorous and widespread testing for staff and residents in order to qualify for a Covid relief funding. As of August 8th, the Massachusetts DPH has halted Orig3n from performing Covid testing citing the laboratory director’s failure in providing management and the lack of quality control measures in testing. According to Robin Smith, CEO of Orig3n, “We’re currently working with the state of MA to finalize steps that will enable us to resume testing in our Boston lab,” in a statement to the Boston Globe.

Orig3n did not only perform testing for long term care facilities in MA. They have also been lauded by public health officials for providing tests to unhoused people in the greater Boston area and have been contracted by State public health systems, schools, and long-term care facilities throughout the country. Orig3n’s Chief Executive Officer reports that the lab has processed tens of thousands of Covid-19 tests over the past 90 days. This news out of Massachusetts  may be just the beginning of the test failure story. Keep an eye on North Carolina where the state department of Health and Human Services contracted with Orig3n to provide Covid testing, setting up more than 300 test sites to increase testing access for African American, LatinX/Hispanic and American Indian communities. In early August there were reports of a Covid surge in NC. A few days after the uptick in Covid cases was reported there, there was a news report that test results sent to Orig3n would be delayed due to “unforeseen circumstances” and that the State lab would now be performing these tests.

The fact that Orig3n has become a major provider of Covid-19 tests despite numerous prior concerns is a massive public health failure. While we desperately need access to testing, it is imperative that this testing is reliable and from a trusted source. There were significant limitations and gaps in regulation of laboratory testing prior to Covid, and the hopes that oversight of laboratory tests would improve have been dampened by a recent decision from the current administration and the United States department of Health and Human Services that premarket review by the Food and Drug Administration (FDA) for laboratory developed tests will no longer be required. 

In 2018, after Orig3n released a test report for my dog and water from my kitchen sink for the Child Development genetic test, I filed official complaints about Orig3n with both the FDA and with the Centers for Medicare & Medicaid Services (CMS) – Clinical Laboratory Improvement Amendments (CLIA) Region 1. In these letters I outlined concerns related to the laboratory’s technical proficiency and professional oversight, the lack of clarity of how Orig3n would store and use collected biological samples, and the bioethical issues related to direct-to-consumer genetic testing marketed for children. I received responses from both agencies. From the FDA ,“We take such reports seriously, and we will evaluate this matter to determine what follow-up action is appropriate. The type and extent of any follow-up is dependent upon the nature of the problem, the possible impact on the public health, and the availability of our resources.”  And I was assured through multiple correspondence that the Massachusetts Department of Health and CLIA-Region 1 were investigating my concerns. It should be noted that I have not been alone in reporting concerns about this lab – for an excellent summary of the pre-Covid concerns, see this Businessweek article.

How is it possible that despite the many public concerns raised, Orig3n could be fast-tracked by the FDA and recommended by the MA DPH as a vendor for testing so important as Covid-19 – the same agencies that have been investigating these issues? Certainly, questions of false results should have risen to the surface as possibly “impacting public health” when the FDA was considering authorization for Covid-19 testing, right? I can only assume that in the end, FDA and CMS just did not have adequate available resources or the authority to fully investigate and consider this and other concerns raised over the years.

Orig3n has had a troubled history, but I fear that this lab’s story is just the tip of the iceberg, especially as there are really no barriers to entering the Covid-19 testing market short of being a CLIA certified laboratory (and sadly, that seems to be a pretty low bar). Today there is a long and growing list of commercial labs throwing their hats in the Covid testing arena. Many of these once focused solely on direct to consumer testing are now pivoting their focus to on the more lucrative Covid-19 testing. I am sure genetic counselors out there recognize some of the names on this list of tests who have received Emergency use Authorization by the FDA Covid-19 testing. Although all of these labs have been granted authorization, I am certain the quality of the testing among these labs is not equal. From my discussions with friends and family who have gone through Covid-19 testing, it seems that the lab that is performing a Covid-19 test is not usually made transparent to the patient. When you put your trust in your healthcare provider, school system, long-term care facility, employer, or public health officials – you may never know what lab is performing the test.

False positive and false negative tests are a possibility with any screening test. While the issue that came to light with Orig3n was false positive tests, false negative tests are also a problem with testing for Covid-19 and issues with false negative tests are probably more difficult to recognize by laboratories and public health officials given that most tests are negative. (Side note: this story highlighted a horrible situation of two women’s real health concerns being dismissed by the medical system because of false negative tests). The algorithm published by many labs is that if your test is positive, it should be treated as positive regardless of whether or not you have symptoms. But if your test is negative and you have symptoms, you should seek a second test. But is there any way you can make sure your test goes to a trustworthy lab? As a patient, is there anyway to even know for certain, what lab is performing your test?

While we are in desperate need of testing for Covid-19, we need to ensure that the available testing is reliable. Public trust in our health system and in science itself is already incredibly fragile and fast-tracking any lab that wants to get into the Covid-19 testing business will do more harm than good in the fight against this virus. We need more resources for, and empowerment of, our regulatory bodies, at both the state and federal level, to allow for review, oversight and consumer protection of laboratory testing. With time, this Covid-19 crisis will end, but the need for this type of oversight across all types of laboratory testing, including genetic testing, will not. Orig3n’s Covid-19 testing errors are a good example of the type of harm that will constantly occur without it.

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Selective Amnesia, Part 3: We Are Judged On Our History

In Part 1 and Part 2 of this three part post, I described the continuity of explicitly eugenic goals in post-WWII genetics as illustrated by some aspects of the history of the American Society of Human Genetics (ASHG). Here I follow these eugenic threads up to the modern day to help us understand the complicated and at times antagonistic relationship between geneticists and people with disabilities, their families, and their advocates. I pick up the story with the introduction of amniocentesis into clinical practice.

It is probably not a historical coincidence that “genetic amniocentesis” began to flourish once safe, legal abortion became available in the US and other countries in the 1960s and 1970s (amniocentesis had been performed for therapeutic reasons and for monitoring fetal lung maturity and Rh incompatible pregnancies for some time prior). In the 1970s, cell culturing techniques and cytogenetic G-banding allowed reliable prenatal detection of fetal karyotypes. Prenatal testing was initially made available to pregnant women who were 35 or older. The story that is told – our collective memory –  is that this age cutoff was chosen because at age 35 the probability of an unbalanced karyotype in the fetus was greater than the miscarriage rate of the procedure. In fact, the primary reason that this cutoff was chosen was economic cost-benefit –  the cost-savings by preventing births of children with Down syndrome outweighed the cost of the procedure and lab work. Or, as the authors from a 1973 article in The Lancet more bluntly put it:

“We are less certain about the balance and costs [of amniocentesis] at current rates of screening the whole pregnant population. But is a detailed estimate of the costs required? The lifelong care of severely retarded persons is so burdensome in almost every human dimension that no preventive program is likely to outweigh the burden.”

As each new form of prenatal diagnosis was introduced into clinical practice – maternal serum screening for neural tube defects, chorionic villus sampling, ultrasonography – the scope of conditions considered for prenatal screening expanded, as did the number of pregnant women “eligible” for testing. For example, alpha-fetoprotein (AFP) screening was introduced to detect spina bifida and anencephaly and then broadened when it was discovered that low maternal serum AFP was linked to fetal Down syndrome, trisomy 18 and other aneuploidies and genetic conditions. Detection rates continued to rise as additional analytes (e.g. hCG, estriol) were incorporated into testing. Ultrasonography was initially seen as a tool to measure fetal growth, verify viability, and to identify multiple gestations. It soon became a diagnostic and screening tool for detecting neural tube defects, then Down syndrome, and eventually many uncertain, minor, and profound fetal anomalies. Targeted carrier screening for genetic conditions enriched in certain populations such as Tay-Sachs disease among Ashkenazi Jews grew to include ten or twenty conditions, and now covers hundreds of rare genetic conditions, regardless of ancestry

Up until the 1990s, most studies that tried to measure the success of genetic counseling focused on reproductive decision making and the impact on the incidence of disabilities. Thus, prenatal testing  continued the historical thread of the overarching clinical concerns of medical geneticists that the gene pool was unhealthy and that disability was a medical and familial tragedy as well as an economic drain to be avoided. Compared to counseling patients to make the “right” reproductive decisions, prenatal testing was a more direct tool for avoiding disability and its associated costs. You might counter-argue that not all women choose to have an abortion when faced with an abnormal prenatal test result. Although there is wide variability in termination rates when Down syndrome is detected prenatally (<50% t0 >90%), estimates suggest that prenatal screening in the US has resulted in about a 1/3 reduction in the prevalence of Down syndrome. Other studies show that the ultimate effect of carrier screening is to prevent the birth of children with genetic conditions

This expansion in prenatal testing occurred with minimal input from people with disabilities, their families, or their supporters. Or input from too many others outside of the genetics and obstetrics communities. No careful weighing of ethical and social values, no seeking of diverse viewpoints. Pretty much any time a new test was shown to be clinically valid or an old one was improved, it was incorporated into clinical practice, a trend that accelerated once genetic testing became big business. Offering genetic testing to all pregnant women for a whole bunch of conditions, well, there’s gold in them thar’ hills.

I know that the view from inside the clinic is very different. Women faced with a positive prenatal test result make difficult, highly situated, emotionally difficult decisions that have little to do with concerns about the health of the gene pool or reducing the population frequency of genetic conditions. But the view from outside the clinic yields a different picture, one in which prenatal testing can look like an existential threat. In addition, people with disabilities get no palpable benefit from prenatal screening, and, tellingly, very little research has been done that tries to demonstrate medical or psychological or developmental benefits to prenatal testing. With rare exception, we are not even trying to show that prenatal testing is helpful beyond allowing the option of termination, even if we claim – with little proof – that it can help prepare a family for the birth of a child with a disability. Advertising for prenatal tests typically pitch the product as a way of ensuring “healthy babies.”

Bias against people with disabilities is not limited to prenatal clinics. It also manifests in genetics clinics where patients and families come for diagnosis and management of congenital and genetic conditions. What, you say? No way. Medical geneticists and genetic counselors are being helpful. We are figuring out what their medical problems are and helping them manage, adapt to, and live with them. We fight and advocate for them.

Yeah, that’s true and we damn well better be doing that stuff. I never met a genetics professional who wouldn’t charge into Hell for their patients. But. A patient visit to a genetics clinic can feel like entering a wunderkammer, a Cabinet of Curiosities, where they are cataloged for their freakishness and pinned in the glass case of a journal article or clinic note. We put them under a clinical microscope to parse out the ways they are different in excruciating detail – the length and shape of their philtrum, the set of their ears, the distance between their pupils, the gap between the first and second toes. Their DNA is analyzed in nano-fine detail in search of pathogenic variants that set them apart from the rest of us. Their rich family histories are reduced to circles and squares that we blacken and mark with death slashes. In effect, clinicians are (unintentionally) doing everything they can to show how patients are different from the clinicians. Geneticists may not be blatant ableists, but they can unintentionally reinforce systemic ableism.

Even the psychological aspect of genetic counseling – what we like to think makes us the ethical antithesis to eugenics – is historically steeped in  prejudice against disability. As the historian Marion Schmidt has demonstrated, the history of psychotherapy around disability is rooted in negative stereotypes. Psychotherapists’ theories were based on the assumption that cognitive and physical disability produces unique psychological disabilities for patients and their families. When psychotherapeutic techniques were incorporated into genetic counseling, it was to help families work through the emotional trauma induced by having a “defective child” so the family could ultimately make “logical choices.” For example, Arthur Falek, the director of the first psychiatric genetics department at Emory University, in a chapter on psychological aspects of genetic counseling in a 1977 genetic counseling text, wrote “lack of guidance and realistic planning in families with genetic disorders can lead to disastrous results.” Or as Steven Targum wrote in a paradigm-shifting 1981 article on psychotherapy in genetic counseling “With the advent of prenatal diagnosis and screening programs to determine carrier status, prospective genetic counseling programs have become a reality. Such counseling may avert much unwanted human suffering. The psychotherapeutic considerations discussed in this paper may be applied to prospective parents who need to anticipate the impact of a defective child on them.”

It’s no wonder that people with disabilities might look at geneticists with a wary eye. Viewed with their lens, we’ve been working to reduce their numbers and label them as disappointments to society and their families, even as we paradoxically advocate for them. Sometimes when we are working to do good we can do bad. It is so deeply rooted in our history and our practice that we have a difficult time seeing it. There are parallels here with White people’s attempts to support Black lives that has often served to reinforce systemic racism. This criticism is difficult for us to accept in much the same way that those who run diversity training programs have found that White people who profess to be non-racist have a hard time accepting that their thoughts, words, and deeds can negatively impact people of color. And, like Blacks in America, people with disabilities have suffered from discrimination in housing, medical care, employment, voting, and education. Laws may grant basic rights to ethnic minorities and people with disabilities, but they still have to fight tooth and nail to get those laws enforced

I am not claiming to be a spokesperson for people with disabilities. I am not in a position to present their views, which may vey well differ from mine. Rather, I am using a historical narrative to try to understand why some people with disabilities may be ambivalent and distrustful of clinical geneticists and genetic counselors. There have been plenty of articles written about these matters, plenty of speakers at conferences, and course work in training programs. That’s all good, but more concrete actions need to be taken. We could conduct more studies on whether there are benefits to prenatal screening beyond pregnancy termination. We can hold more robust and diverse discussions to develop guidelines for deciding which conditions to incorporate into prenatal and carrier screening that are more measured, respectful, and ethically balanced. We need to teach a more honest assessment of our history. We should understand and respect our past but we shouldn’t honor ethically flawed practices like eugenic sterilization by naming awards after their advocates. When we are criticized we need to react receptively, not defensively. We should be as dedicated to these goals as we are to fighting for racial equality. Amen.

 

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Selective Amnesia, Part 2: Guardians of The Gene Pool

A few weeks ago in this space, drawing on the research of others, I wrote about how geneticists have created a collective memory of eugenics in which they put all the “bad” eugenics behind us after World War II and moved on to the enlightened modern era. I discussed how in fact notable historical figures Franz Kallmann, William Allan, and C. Nash Herndon actively espoused eugenic policies from the 1940s through the 1960s. Here, in Part 2, I highlight more connections between the American Society of Human Genetics (ASHG) and eugenics to make it clear that support for eugenic policies and beliefs was common among geneticists. Kallmann, Allan, and Nash were not a lone trio of eugenic stragglers who were still mired in a questionable ethical past.

Let’s start by following the money. Post-WWII geneticists may have claimed to reject eugenics, but they had no problem with accepting money from eugenically oriented funding sources. As Nathaniel Comfort notes in The Science of Human Perfection, eugenic organizations were tapped to fund the establishment of the American Journal of Human Genetics. Part of the funding  for the journal was arranged by the eugenicist Frederick Osborn through the Association for Research in Human Heredity, which was formerly the Eugenics Research Association of the Eugenics Record Office in Cold Spring Harbor, NY. The remaining funds were supplied by Wickliffe Draper’s Pioneer Fund, established in 1937 to be one of the primary funders of eugenic research (it continued to support racist and eugenic research into the 21st century). There was even discussion of using a picture of Charles Davenport or Barbara Burks (a researcher  in psychiatry who spent several years at the Eugenics Record Office and who has a fascinating biography) for the journal’s frontispiece. During the 1950s, Charles M. Goethe, another wealthy eugenics benefactor, sent small annual checks to the ASHG treasurer to purchase gift memberships for students with high IQs and thus good breeding stock “while he [the student] accepts the responsibility of fathering at least 3 children.” 

Post-WWII geneticists took the racist and elitist policies espoused by the most notorious conservative eugenicists and transformed them into a crusade dedicated to reducing human suffering and ensuring the “health of the gene pool.”  Instead of vitriol directed at immigrants and their “defective germ plasm,” geneticists fretted that the human gene pool was degenerating, i.e., our genetic load, as the result of a trifecta of forces including existing mutations that were already part of the human breeding pool, new mutations induced by ionizing radiation due primarily to the proliferation of nuclear weapons, and the relaxation of natural selection in humans due to improvements in medical care and living conditions that allowed people with illness-predisposing mutations to survive and reproduce. They sometimes argued that the very future of humanity hinged on keeping the gene pool healthy, along with cost-savings from eliminating mutant genes. Even James Neel, a strong critic of conservative eugenics, titled his 1994 autobiography Physician To The Gene Pool. If the gene pool wasn’t sick or threatened, presumably it would not need a physician to tend to it.

Of the three factors alleged to be threatening to increase the genetic load, medical geneticists could exercise some measure of control over the existing mutation frequency. They argued that if parents were properly counseled then high risk couples would refrain from having children with genetic disorders, thus reducing the impact of genetic disease on the population. Conversely, low risk couples would have more children, improving the overall gene pool. You didn’t have to make people refrain from reproduction by force or sterilization. You just need to wisely educate them and let them see the light on their own.

There was widespread support among the genetics community for this reframed and reformulated eugenics. Below are illustrative quotes by other ASHG presidents (some of which come from a 1997 paper by science historian Diane Paul):

Herman Muller (ASHG President, 1949; Nobel Prize Winner, 1946): “It is shown that the only means by which the effects of the genetic load can be lightened permanently and securely is by the coupling of ameliorative techniques, such as medicine, with a rationally directed guidance of reproduction. In other words, the latter procedure is a necessary complement to medicine, and to the other practices of civilization, if they are not to defeat their own purposes, and it is in the end equally as important for our health and well-being as all of them together.

Sheldon Reed (ASHG President 1956): “People of normal mentality who thoroughly understand the genetics of their problems, will behave in the way that seems correct to society as a whole.”

Curt Stern (ASHG President, 1957): “In the course of time…. the control by man of his own biological evolution will become imperative…”

James F. Crow (ASHG President, 1963): “How far should we defend the right of a parent to produce a child that is painfully diseased, condemned to an early death, or mentally retarded?”

Bentley Glass (ASHG President, 1967; President of the American Association for The Advancement of Science, 1969), writing in 1971: “Whether advice or compulsion is to be used by society in these cases would seem to rest with the severity of the condition. If the prospective defect is one that would leave a baby a hopeless imbecile or idiot throughout life and a ward on society, or cause it to be born without limbs, or make it otherwise gravely defective, avoidance of parenthood ought to be mandatory.”

You might argue angels-dancing-on-a-pinhead that these statements are not eugenic philosophies sensu strictu. Maybe you could make a half-convincing argument to that effect. But that sounds like denial to me. Davenport, Harry Laughlin, and the other pre-WWII eugenicists would have recognized and supported any of the above pronouncements.

But let me be clear. This is not a simple story of ethically challenged geneticists pushing an intentionally evil agenda. These were good people from across the political spectrum who believed they were trying to do good for their patients and society. Just like us. And, just like us, they recognized the psychological and emotional impact of genetic disorders on patients and families. As the historian Marion Schmidt notes, Franz Kallmann, former member of the German Society for Racial Hygiene who advocated sterilizing the families of patients with psychiatric disease, urged genetic counselors to understand patients’ “fears and hopes, defenses and rationalizations” and to develop an “empathetic understanding of the motives and capacities of the person who comes for help.” Foreshadowing  21st century calls for genetic counseling to be conducted as a form of psychotherapy, Kallmann viewed genetic counseling as “short-term psychotherapy aimed at reducing anxiety and tension,” albeit with the ultimate goal of producing “a well-planned family [that was] indispensable as a biological, social and cultural unit from a eugenic standpoint and a unique source of pride and stability for the individual.”

I don’t mean to imply that ASHG is or was  ever an unethical, sinister eugenic organization. However, as the primary professional organization for geneticists, ASHG’s history reflects the history of the philosophy, ethics, and practice of medical genetics. As much as we may want to ignore that history and keep it safely behind us, it is embedded, if you will, in the DNA of the profession.

In the third and final part of this series of postings, I will trace these eugenic threads up to current day practice to help us better understand the complicated and at times antagonistic relationship between medical genetics and people with disabilities, their families, and their advocates. 

 

 

 

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