Author Archives: Robert Resta

Acting In Bad Faith? A Proposed Religion-Based Genetic Counseling Training Program

As some DNA Exchange readers may know, Union University, a self-described Christ-centered school in Tennessee, is working to establish a faith-based genetic counseling training program. According to the school’s website, the program’s goal is “to train and equip excellent genetic counselors who are compassionate pro-life Christians.” As far as I know, the program has not yet applied for accreditation through the Accreditation Council For Genetic Counseling (ACGC), though it is apparently planning to do so. The program is also seeking endorsements from the American Association of Pro-Life Obstetricians and Gynecologists and the Christian Medical and Dental Association. For all that, it does not yet appear to have the funding to support the program.

Let me be clear up front – I am not anti-religion. Religion plays a critical role for many of us in establishing our identities, values, core beliefs, communities, and how we cope with and understand the world around us. Nor am I critical of any genetic counselor who has deeply held religious beliefs or opposes abortion; religious diversity only enriches the profession. But I am critical of religious teachings that can cause harm and that are used to justify sub-standard medical care.

The program describes pro-life genetic counseling as focusing on these values:

  • Relationship and community within a Christian context, including prayer for and with the patients
  • Carefully and lovingly applying Scripture to each situation
  • An in-depth interpretation of the genetic data, including ambiguities, in ways that all patients can understand
  • Connecting patients with others in similar situations
  • Advocating for children born with non-traditional genetic profiles
  • Advocating for adoption in all of its Biblical forms
  • Applying Christian genetic counseling principles to patients making genetically-related decisions at any age, including decisions regarding reproduction or end of life issues
  • Providing continuing education on the latest data and advancements in the field through the academy and to the greater public

I am not sure who the faculty might be. The program’s administrator has a PhD in Experimental Pathology and specializes in plant tissue culture but does not appear to have training, publications, or accreditation in medical genetics or genetic counseling. A director is not named though the site acknowledges that this person needs to be a certified genetic counselor.

I suspect that, like me, many genetic counselors are not comfortable with the idea of a faith-based training program. It’s like having a Creationist teach a course on evolution. I don’t know which specific Christian tenets the Union program will adhere to as there is some variability in the moral positions and beliefs of different branches of the Southern Baptist Convention and the Tennessee Baptist Convention, which the school is affiliated with. But there are a number of potential concerns in terms of the ability of the program to produce appropriately trained graduates whose practice can conform to the NSGC Code of Ethics and provide compassionate care that supports the wide spectrum of core beliefs, values, and life styles across the patient population.

Reproductive options such as abortion, gamete and embryo donation, and carrier screening for purposes of avoiding or terminating a pregnancy are explicitly prohibited by most Evangelical Christian churches. Hence faith-based genetic counseling does not provide, as the NSGC Code of Ethics states, “the necessary facts, and clarifying the alternatives and anticipated consequences.” This violates a long-standing core principle of the practice of genetic counseling. One might argue that these are not viable options anyway for some Evangelical Christians and so it is not a serious ethical lapse if they are not offered. But a good counselor will clarify up front what the patient’s values are and, if patients are opposed to certain courses of action, then those options will not be offered or judged. A good counselor will also not assume that Evangelical Christians are a monolithic block who all strictly adhere to their church’s teachings about contraception and abortion. What matters is not what choices are available to all patients. Rather what is important is to explore the choices available to a specific patient based on their values, beliefs, and social situations.

Another area of concern about faith-based genetic counseling relates to matters of sex, sexuality, and gender. For most Evangelical Christians, there are two and only two sexes and two genders based on sex and gender assigned at birth, gender is biologically determined (man and woman), anything other than sex between husband and wife is not permissible, and homosexual behavior is not tolerated. If an unmarried couple or a single pregnant person came for genetic counseling, could the counselor withhold overt moral judgment? This belief would also make it impossible to utilize the most recent pedigree standardization guidelines, which emphasizes the importance of appropriately depicting people of different genders as well as those who do not identify with the sex they were assigned at birth.

And the school takes their censure of homosexuality seriously. In 2015, Union University withdrew from its association with the Council of Christian Colleges and Universities (CCCU) after CCCU failed to censure two other affiliated schools that altered their hiring and benefits policies to include same-sex couples. In 2017, Union’s president and 3 faculty were signatories to The Nashville Statement, a document that condemns homosexuality. In 2020, Union University rescinded the admission of a student in their graduate-level nursing program after it was discovered that he was in a same-sex relationship, and other LGBQT+ students claim the school has tried to them to undergo harmful conversion therapy. The school’s code of conduct, called a Community Covenant, states that “The promotion, advocacy, defense, or ongoing practice of a homosexual lifestyle (including same-sex dating behaviors) is also contrary to our community values.” So a genetic counselor who graduated from such a program could not even publicly or professionally support patients who are not cisgender heterosexual.

In Evangelical Christian teaching, people who are intersex are accepted into the church but told, quoting from the Bible (Matthew 19:12), that they are “eunuchs who were born that way from their mother’s womb” and that God will reveal their “true” sex and they will be “healed” on the Last Judgment Day. It is, of course, biologically inaccurate to state there are only two sexes and genders and that people who are intersex are somehow broken. It is also psychologically and socially damaging and leads to higher suicide rates and psychological trauma for people who are intersex and/or non-binary. There’s nothing pro-life about that. And I suspect that most intersex people would be offended at being called “eunuchs.”

Some Evangelical Christian teachings, and Catholic teachings for that matter, typically prohibit contraception and sterilization, except in certain rare circumstances, even though contraception – surgical or otherwise – can result in improved health and economic well-being for women and families. For some Evangelicals and Catholics, this ban could also be interpreted to mean that women who carry pathogenic BRCA1/2 mutations might not be able to obtain a pre-menopausal risk-reducing oophorectomy. Not surprisingly, the Evangelical stance on sterilization and contraception has historical ties to eugenics (of course, so does genetic counseling so we can’t claim the moral high ground here) and the fear that Christians, especially White Christians, are reproducing at lower rates and will be replaced by other races and people with other religious beliefs who purportedly  have higher fertility rates (I know of no direct connection between eugenics and Union University or its genetic counseling program). Madison Grant continues to raise his ugly head. Furthermore, Union is affiliated with the Tennessee Baptist Association, which itself is, as noted above, affiliated with the Southern Baptist Convention. The Southern Baptist Convention was founded in Georgia in 1845 by white supremacists and supported slavery and anti-miscegenation laws, and opposed the Civil Rights Movement well into the 20th century, though by the 1990s, the Southern Baptist Convention denounced its past ties to these beliefs and is now ethnically and racially more diverse.

People who identify as Christian, especially conservative Christians, are less likely to utilize genetic testing and counseling and providers who identify as Christian are less likely to offer these services to their patients. Since about 14% of Americans identify as White Evangelical Protestants, they represent a significant minority who are possibly not being reached by currently available genetic services. Faith-based genetic counselors could argue that they would increase the utilization of genetic counseling in this population, which would align with principles that are key to NSGC’s JEDI initiatives. However, they are doing nothing to address JEDI issues, and in fact are working at cross-purposes to it if they are providing sub-standard and inaccurate counseling and condemning anything other than heterosexual behavior and telling people who are born with sexual variations that they are “broken.” The genetic counseling profession embraces diversity, including religious diversity, but it does not support intolerance.

On the other hand, the genetic counseling profession needs to make clear that it is very supportive of the range of religious views of their patients. We are perfectly capable of working with conservative religious patients while also maintaining our personal religious beliefs. The experience of even some of the more conservative Amish groups with genetics by and large shows this.  And, as Frances Collins and other scientists demonstrate, Evangelical Christian and other religious scientists and physicians participate in first class and ethically acceptable genetic services and scientific endeavors while accepting standard scientific theory, research, and data and without receiving training from a conservative religious institution. But clearly the genetic counseling profession can do better at actively working with religious groups to demonstrate that genetic counselors can provide services in a supportive, respectful, and non-judgmental manner and supporting our colleagues who are religiously conservative.

I am not familiar with the fine details of obtaining ACGC accreditation, but I do know that it is a lengthy, demanding, and complicated process. It is possible, maybe even probable, that ACGC will deny certification to Union University. The program could then decide to develop their own accrediting organization that specifically certifies only graduates of faith-based programs. After all, that’s what genetic counselors did when we separated from the American Board of Medical Genetics back in 1992. While this would likely be illegal in some states that already have genetic counseling licensure, it might be less of an issue in states that don’t currently have licensure. It’s also possible that some conservative legislatures in states that already have licensure would be willing to modify existing laws to extend genetic counseling licensure to graduates of faith-based programs.

Faith-based genetic counseling can be read as being part of a larger problem of some religious groups using legislatures and judiciaries to dictate medical care guidelines for the general population that aligns with the religion’s beliefs. In addition, some religious groups have increased their control of the practices and policies of health care institutions by purchasing them as well as by creating versions of health insurance plans, something I warned about a decade ago in a 2013 plenary session at the NSGC Annual Education Conference (Thursday, October 10, 2013 at 9:45 AM, to be precise). For example, Catholic hospitals comprise the largest non-profit group of health care providers in the US. This can result in severely limiting access to abortion in states where it is still legal and and reducing access to contraception and surgical sterilization. They are literally trying to force the entire US population to embrace a very narrow minority interpretation of Christian theology.

But the profession can’t only be angry about it, however justified the anger might be. We can’t ignore and dismiss it. We have to understand it, adapt our practice, respond thoughtfully, examine some of our core ethical principles, and be willing to take a stand on controversial issues. It raises some tough questions, but we have to answer them.

7 Comments

Filed under Robert Resta

Guest Post: Prison Abolition 101 (For Genetic Counselors) by Cassandra Barrett, PhD, CGC; Artwork by Mike Nickles

 

 

About the author: Cassandra Barrett graduated from the University of Utah graduate program in genetic counseling in 2021. She holds a Ph.D. in biological engineering and specializes in neurogenetics, variant classification, and precision medicine. She has been involved with prison organizing and education since 2017 and is currently an organizer with Liberation Lit in the Kansas City area. She can be reached at cas9bar@gmail.com

About the artist: Mike Nickles is an artist and writer from Hillsboro, Kansas. He is currently incarcerated in the Lansing Correctional Facility. Mike shares his work with the hope that more people will know the truth about the realities of incarceration and be moved to action. You can follow and connect with Mike on his new Instagram page where he shares his art and writing @inside_out_mike.

People in prison are not a group we think about much when it comes to J.E.D.I initiatives in genetic counseling. What do prisons even have to do with genetics? I have been involved in prison organizing and education for about six years now. As I have learned over time from my mentors and friends on the inside – mass incarceration impacts everything, everywhere, all the time. And that includes genetic counseling.

My hope in writing here is to get more genetic counselors thinking about the impacts the prison industrial complex has on our patients, our profession, and our own lives. So, in the spirit of subversion, I want to share some of the effects I have seen; I’m sure there are many more interfaces between the prison system and genetic counseling that I have yet to think of. I will add a disclaimer that I have never been incarcerated, nor have I had any close family who has been incarcerated.

The first and most simple connection is that (formerly) incarcerated people are our patients. In fact, they are quite likely to be people who could benefit from genetic counseling. Individuals with disabilities are massively over-represented in the prison population. In many cases people are incarcerated as a function of ableism, whether that’s a person with a neurological condition such as Huntington’s disease being arrested secondary to their symptoms, a Deaf or nonverbal person being unable to communicate with poorly trained police, or a person with disabilities being forced into poverty and therefore more contact with police. It goes without saying that BIPOC Deaf and disabled people face the greatest risk here. The overturning of Roe v. Wade has also expanded the risk of incarceration for pregnant people and their providers.

When I started my master’s program in genetic counseling I had already been involved for a while in prison education, teaching Biology 101 on a volunteer basis. I was excited to learn more about genetic counseling practices and competencies specific to counseling incarcerated patients. I quickly realized there would be no such resources forthcoming. Despite the fact that we all counsel folks who have experienced incarceration, there is next to no discussion of the needs of this population within our profession. I have only ever found a single role play and one wonderful master’s thesis relating to genetic counseling for incarcerated women (if you know of any more resources, send them my way!). In a country where over 600,000 people go to prison annually, this is an important area of cultural competency to be trained in. As a majority white cis female profession, I suspect that most of us have never considered ourselves to be at risk of incarceration. In fact, many of us may feel that we benefit from prisons. These days my prison organizing work is centered on mutual learning and relationship building, rather than teaching.

I want to be cautious about advocating that genetic counselors invest time in building out cultural competency toolkits, research projects, roleplays, courses, etc. around incarceration. While these are important things to do and should be done, I instead hope that we will focus more of our efforts on ending mass incarceration and build systems of true accountability and restorative justice. The actions of the prison system itself speak loudly in favor of its own abolition. Learning about the realities of daily life for people in prison is an important way to inform our counseling and our politics. But prisons are intended to be cut off from the rest of the world. They are often built in rural communities. It’s hard to get information in and out of a prison. I have come to see this as an intentional part of their construction. If more of us knew about the realities of prison life, it would be much more difficult to justify their continued existence. I hope that this is just a starting point that will lead any readers to seek the firsthand accounts of people most impacted by incarceration. A reading list with some good places to start is provided at the end. And I want to share with you a few things I have heard repeatedly from my incarcerated pen pals, students, and co-organizers and that have been published in peer reviewed studies of prison life. I hope you will take time to digest these stories, consider the questions they raise, and ask your own.

❖ Prison wages are shockingly low. The average national wage is 63 cents per hour. In some states, work is unpaid. In Louisiana for example, many incarcerated people still pick cotton for as little as 2 cents per hour. Many people in state prisons work to keep the prison running, support state institutions, or are contracted out by the prison as laborers. I’ve known people who built furniture for the university where I got my master’s in genetic counseling, printed flyers for the state department of health, took customer service calls for the state DMV, or made debt collection calls for private companies. Private prisons are by no means the only institutions benefitting from exploitative practices. In what ways might your institution benefit from this type of exploitation? How is your patient with an incarcerated parent going to afford genetic testing given such wages?

❖ Costs in prison are shockingly high. It will cost someone in prison 25 cents to send a character-limited e-message to a loved one and just as much for the loved one to message them back. Imagine spending a quarter for every text you send in a day. Communication services in prison are big money. Adding money to an account to make calls or for someone to buy toiletries at the commissary (a small convenience store inside the prison) will be coupled with massive “service fees”- think Ticketmaster x10. Commissary prices are massively inflated. During this summer’s heat wave, the cost of a small fan in the Kansas prisons where I live was $44 or 440 hours of work with the state wage here. By the time folks can afford a fan, it will already be winter. Prisons make big money for their contracted vendors. Does your company’s retirement investment portfolio include any prison vendors? How much money is it going to cost your patient to call their incarcerated family member for more family health history information?

❖ Prison is disgusting. One of my pen pals in Oregon asked me to tell everyone I know that he was recently served a cockroach floating in syrup for breakfast. Their kitchen has a rat infestation. In some places, shared toilets are only flushable a few times per day. You go until it is full because you and the dozens of other people on your bunk can only flush four times per day. You have to buy soap, menstrual products, deodorant, etc. out of your own pocket at high commissary costs. Not all your bunk mates will be able to afford this. With no A/C on in your dormitory, the smell alone will keep you awake all night. Lack of proper climate control is a common issue across prisons leading to mold infestations and heat/cold related deaths and illness. Is this the type of environment you would recommend for your patients? How might you feel and behave in such an environment?

❖ Prisons are cruel. Suicide watch involves being locked in a cell all by yourself with the lights on 24/7, naked except for a heavy “anti-suicide smock.” People in prison are routinely denied healthcare and may have their diagnoses withheld from them. I have had students in prison who were denied x-rays for broken bones and who were not told they had terminal cancer. Sexual assaults both by other incarcerated people and the staff meant to guard them are commonplace. Like on the outside, Deaf people and those with disabilities are disproportionately targeted. HEARD, a cross disability abolitionist organization, estimates that some 80% of Deaf people in prison are raped while incarcerated. If you are sexually assaulted and require an abortion, you will have to pay for it yourself in 16 states, if you are even allowed access to the procedure by staff. The average cost is over $500, or 793 hours of work for the average incarcerated person (although people incarcerated in women’s prisons tend to earn less than those in men’s prisons, just like on the outside). If you give birth instead, you may be shackled during the process and likely will not be allowed to hold your own baby once they are born. How do genetic counselors put patients into contact with the carceral system through mandatory reporting, documentation of medical procedures, etc.? What screening procedures, medical diets, mobility aids, genetic information, etc. are people in prison being barred from?

These stories are commonplace and routine. They do not represent failures of the system but are rather purposeful features of it. As genetic counselors we know that individual genetic conditions may be rare, but as a whole they are common. They too affect us all. Discussions about ending incarceration belong in genetic counseling because we are all impacted. I hope we can begin to equip ourselves to have those conversations through education and relationship building. I look forward to hearing what questions come up within our community and how they may shape our practice moving forward. It’s a long road, but it’s time to get started on down the path.


Resources

Pen pal programs are incredibly important! Isolation in prisons is a serious issue. For those of us on the outside, building relationships with people on the inside is essential if we are committed to this work. My pen pals are some of the coolest people I know and writing letters is a simple way to get involved. There are many organizations that run pen pal programs including Black and Pink, Liberation Lit, and Abolition Apostles.

The Visiting Room Project is a collection of stories about the realities of life without parole in Angola State Prison in Louisiana, a place with the highest concentration of individuals serving life sentences in the world.

Ear Hustle is a podcast about “the daily realities of life inside prison shared by those living it, and stories from the outside, post-incarceration.”

Resisting Invisibility is a blog published by Liberation Lit, a group of readers both inside and outside of prisons working to build a better world without cages. For full transparency, I am an organizer with Liberation Lit.

Mariame Kaba, Dean Spade, Victoria Law, and adrienne maree brown are just a few important, accessible organizers and authors whose work is incredible and essential. They have been a part of exciting initiatives including the NYC Transformative Justice Hub and Project NIA that provide resources to begin tackling difficult questions about prison abolition (If not prisons, then what? What about the rapists, the murders? How do we keep ourselves safe?). Check out their work and any/all publications by these authors. I especially recommend Prisons Make Us Safer: And 20 Other Myths About Mass Incarceration by Victoria Law as an introduction to the realities of the prison system in the United States. 

If you are looking to do some truly deeper diving, this is the place to go for an archive of resources.

Finally, I have previously published a related article in Perspectives in Genetic Counseling. The intersection of genetic counseling and the prison industrial complex is an area I hope to continue writing about; I welcome any feedback, questions, and connections from colleagues!

2 Comments

Filed under Guest Blogger

The Power Of Symbols: The Pedigree As A Tool of Conformity and Oppression

Pedigrees are paragons of infographics — “graphic visual representations of information, data, or knowledge intended to present information quickly and clearly.” Yup, that’s pretty much what a pedigree is. Just think of how much clinical and genetic information you can glean from scanning a pedigree for even just a few moments. Eliciting a pedigree during a counseling session is also a great way to establish rapport and trust with a patient, get a grasp on family dynamics, and gain insight into patients’ understanding of disease etiology (“I’m not very close with my father. He left when I was pretty young. I think he had leukemia but he worked in a shipyard and was exposed to all kinds of chemicals.”). The family story is often more interesting than the family history. Then there’s that appealingly simple geometry of squares/circles/diamonds/lines and the satisfying symmetry of the paternal lineage on the left and the maternal lineage on the right. Nice, neat, clinically objective, non-judgmental, and harmless, right?

Well, maybe not always so harmless and objective. Symbols can be imbued with power by the information they communicate and that power can be used to control, harm, and manipulate people and reinforce social power structures.

As I’ve written about before in this space before, pedigree nomenclature and structure reflect what Judaeo-Christian Westernized cultural values consider to be an “ideal family.” Standard pedigree structure works best for a single mating between a man and a woman, along with their respective offspring and antecedent and descendant generations. Maybe you can squeeze in a second mating for one or two individuals in the family, but after that, things get pretty messy and difficult to read.

Over the last century or so, cousin marriages have been discouraged in most Westernized countries and in some cases are illegal. Although pedigrees can incorporate an occasional consanguineous mating without becoming too unwieldy, the picture gets complicated if there are multiple inbreeding loops like those found in the many societies where cousin marriage is the norm. And as far as sex and gender go, you have two choices — square or circle, man or woman — that are dictated by an assessment of your genitalia (this will change with the latest iteration of pedigree nomenclature; see below).

The implicit cultural messages here are that you should have one life-long unrelated mate and that you are either a man or a woman, no allowances made for people who identify otherwise.

The oppressive potential of pedigrees is illustrated in the pedigrees collected by the Eugenics Record Office, which operated out of Cold Spring Harbor on New York’s Long Island in the first few decades of the 20th century. Look at the trait key used to classify people in a pedigree and it evokes a smile, an eye roll, tears,  a grimace, a forehead slap, or all of the above. Sexually immoral. Criminalistic. Wanderer. Neurotic (for those of you who like language trivia, the pointing finger symbol that is used to indicate a proband is called a manicule or, more informally, a bishop’s finger).

Pedigree Symbols Used By The Eugenics Record Office

But these labels and symbols are not just harmless historical curiosities that were the products of a few warped minds. This was the era of mandatory sterilization laws in the US and elsewhere. If one of those symbols represented you, the state had the legal right to perform surgery on you against your will to prevent you from having any(more) children. Three generations of imbeciles are enough already, and that ruling was by a liberal Supreme Court that included Louis Brandeis in the majority opinion.

In contrast to how “dysgenic” families were portrayed, pedigrees could manipulate the viewer in the other direction by omitting information of eugenically desirable families. The Darwin Family pedigree below was, for all intents and purposes, the logo of The Eugenics Education Society, headquartered in London and whose president at the time was Leonard Darwin, one of Charles Darwin’s sons. Note that virtually all of the males in the family are “Brilliant” or had “Scientific Ability” but none of the women apparently possessed these traits. More subtly, many of the dysgenic traits described in eugenically undesirable families were omitted from the Darwin pedigree – opium addiction, deafness, intellectual disabilities (Darwin’s much beloved last child, Charles Waring Darwin, likely had Down syndrome), seizures, and alcoholism. Indeed, Darwin himself was so concerned about his family history that he wrote a letter to his father asking for his advice before starting a family (Darwin’s father wrote a similar letter to his father too).

A stark illustration of the power of symbols came up in discussions about updating pedigree nomenclature among the NSGC Pedigree Standardization Task Force, of which I am a member. One of our recommendations is a gender-first nomenclature, that is, a person’s self-identified gender should dictate the symbol’s shape, not their sex assigned at birth. We also considered symbols to use for people who do not identify as either male or female. In reviewing the literature and eliciting suggestions from the genetics and other communities, some suggested using an inverted triangle for someone whose gender identity is nonbinary. However, we rejected that suggestion in favor of a diamond shape because inverted triangle badges were used in Nazi concentration camps to distinguish among the various types of prisoners, such as political prisoners, criminals, prisoner of war, “gentiles who assisted Jews,” Roma, mentally ill, or Jews (the Magen David is essentially, two triangles). The triangle that defined you could mean the difference between life and death.

                            Inverted triangles used to distinguish among the types of prisoners in Nazi concentration camps.                 (https://en.wikipedia.org/wiki/Nazi_concentration_camp_badge

The potential harm of pedigree symbols looms large today now that states have taken to passing laws that criminalize abortion. Suppose that you are practicing in a state like Louisiana after a strict anti-abortion law is passed and you are taking a family history from a someone who had a pregnancy in which anencephaly was diagnosed and she managed to obtain a pregnancy termination through an underground network. If you document that pregnancy with the annotation VTOP (voluntary termination of pregnancy) below, you could potentially open her up to legal prosecution.

                                                                  Evidence of a crime in some states

 A similar outcome could arise in a states like Texas or Alabama that have banned gender-affirming treatment for children, legislation that, as far as I can tell, is often motivated by cynical politics and hate-driven willful ignorance. If you practice in these states and are consulting with a parent who has a child who identifies as female but was assigned male at birth and has undergone gender-affirming treatment such as puberty blockers, you would – under the new guidelines – depict this in the pedigree with a diamond, the annotation AMAB (Assigned Male at Birth), and perhaps further annotations about what treatment was provided. If that pedigree fell into the wrong hands, the parents and the treating physician could be charged with child abuse. And, by law, you may be required to report it to the state, just as health professionals are usually required to report any type of child abuse.

                                                                         Pedigree indicating child abuse in some states

A genetic counselor could be put in the position of either falsifying the medical record or omitting clinically critical information. Talk about a rock and a hard place.

In the idyllic past, we mostly worried about insurance companies getting their hands on pedigrees. Now we have to worry about the prosecutorial system accessing them. Absolutely nothing good will come of that. It’s possible that the judicial system may block or limit some of these laws, but I am not too hopeful at the moment.

Nothing in science and medicine is value-neutral. Everything we utilize and do in our clinical practice can be used for good and for bad and we often have no control over how it is used and abused. Nor should we lose sight of the fact that one day future genetic counselors will look at our pedigrees and other practices and pass critical judgment on us. We should strive for ethical humility amidst our righteousness.


As an added bonus for that small circle of practitioners who love pedigrees as much as I do – fellow PedHeads – you might be interested in this article I wrote long ago in a genetic galaxy far away about the history of the pedigree in genetics.

2 Comments

Filed under Robert Resta

The Questions We Should Really Be Asking After Reading the NY Times Article About Prenatal cfDNA Screening For Microdeletions

As the genetic counseling world knows all too well, the New York Times recently published a story about prenatal cfDNA screening for chromosomal microdeletion syndromes. The gist of the article is that screening for microdeletions has a high number of false positives that produce significant patient anxiety and, in a very small number of cases, patients have elected to terminate a pregnancy before confirmatory diagnostic testing. The Times piece generated 1100+ comments on its site, including many from genetic counselors and physicians, not to mention vitriolic sturm und drang on various social media.

Clearly the article touched a collective genetic counselor nerve — a lot of the reaction has been more reflexive than reflective. Which is kind of surprising, considering that cfDNA for microdeletions is a so-so screen for a handful of rare conditions that genetic counselors have not widely agreed should be included on these tests.

Most of the criticism centered on the article not always making a clear and consistent technical distinction between a screaming test, er, uh, I mean, a screening test (which cfNDA is) and a diagnostic test (which cfDNA is not). This confusion has been an ongoing problem since the early to mid-1980s when AFP screening for neural tube defects — and maternal anxiety over testing — was first working its way into clinical practice (I remember one of my patients back then referring to AFP as “alpha-fucking protein”). Forty years later, and the anxiety and misunderstanding has not improved much.

Some of those criticisms are fair, particularly when the article describes cfDNA results as being “wrong” or “inaccurate.” To the specialist, the term false positive has a very specific definition,* and hence the source of the reaction to the article. But from a semantics standpoint, doesn’t the word false in false positive imply wrong? You can also think of calling a result “wrong” as an example of the tried and true counseling strategy of reframing, i.e. “Well, Jane, your test result actually says that there is more than an 80-90% chance your baby does not have a microdeletion.”

In my opinion the article otherwise does a decent job of highlighting the statistical complexities of cfDNA. The accompanying Figures are helpful in explaining what is essentially the positive predictive value of the tests. In fact, I think the graphics are better than the explanations and graphics on many of the testing laboratories’ websites. Many of these websites are even guiltier of muddling the differences between screening and diagnostic tests, and labs really should know better. It’s no wonder that patients might be confused and anxious when they read that a test is “highly accurate,” “an alternative to amniocentesis or CVS,” and can be assured of a “healthy baby” when results are normal. To be fair, some of the websites also address the distinctions between screening tests and diagnostic tests, but only if you click down into the rabbit warren of information.

I think most of the criticism by genetic counselors glosses over more important and fundamental questions that should be the focus of critiques of prenatal testing and our reaction to the Times piece (here I am defining prenatal testing as including screening and diagnosis). These critical questions include:

• Should we test for any condition prenatally? This is an ethically and for some a religiously complex question but it underlies all of the subsequent questions.

• If there is broad agreement that prenatal testing should be available, then what is its purpose? Realistically, with a few exceptions, is there any purpose beyond selective termination? While termination is an important option and benefit of the test for some, it’s not a course of action that all parents will choose. Some parents might decide to have prenatal testing for “preparation” but as I have argued elsewhere there is minimal data saying one way or another whether prenatal knowledge of a condition helps babies or their families, medically, emotionally, or developmentally (thought at least one study is beginning to address this shortcoming). If patients are going to be put through the emotional ringer of prenatal testing, we should be able to provide solid data on whether prenatal knowledge of a condition provides benefits in addition to the option of termination.

• What criteria should be used in determining which conditions should be subject to prenatal testing? Even if every genetic condition could be detected prenatally (and we might actually get close to that point one day), it wouldn’t make sense to test for many of them. Clinically rational and ethically acceptable criteria need to be developed to guide the selection of conditions to consider for prenatal testing.

• Who decides which conditions are screen-worthy? As Ilana Löwy and others have noted, commercial labs often spearhead this choice but decisions are reinforced and supported by the medical and genetics communities that order the testing. If no one ordered a test, labs wouldn’t offer it. As Liza Minelli, Joel Grey, and Scarface remind us, money makes the world go around. Are we screening for some conditions primarily because we can screen for them and labs offer it? What about input from patients, the public, multiple medical specialties, ethicists, social scientists, people with disabilities, and others?

• Is widespread screening for rare conditions the best use of laboratory and genetic counseling resources? Follow up of screen positive results consumes a significant amount of genetic counselor time and energy, to say nothing of patients’ anxiety and health care costs. Should these resources be focused on more pressing conditions?

• Many jobs in the genetics sector — labs and clinical providers — are dependent on the existence of genetic testing. Labs make their living off of testing but so do many genetic counselors working in clinics. While genetic counselors are not trying to push testing on patients, many genetic counseling jobs depend on the availability of genetic testing, either helping patients decide whether to have a test or explaining results to them once the testing has been completed. For better and worse, the genetic counseling profession has intimately identified itself with genetic testing. Clinics would employ far fewer prenatal, cancer, cardiogenetics, and other specialty genetic counseling jobs if there were not so many genetic tests. Think about how many clinical positions would evaporate if prenatal testing — or, really, almost any genetic testing — disappeared tomorrow. Some jobs would remain, for sure. But the demand for genetic counseling would likely drop off significantly if fewer tests were available. How much does this conflict of interest influence genetic counselors’ attitudes toward, and willingness to adopt, genetic tests, and how much does it subtly and subconsciously influence some of the strong reaction to the Times article?

• First and foremost, a patient’s decision to undergo — or not — prenatal testing should be preceded by a soul-searching exploration with partners and care providers about what parents want out of their children and addressing parental fears of disability, along with ethical and spiritual reflection. The decision requires more emotional expertise than numerical expertise. Should we be offering tests to all pregnant women that require them to master abstruse statistical knowledge in order to decide about whether to pursue testing? Even in a (unrealistic) world where all pregnant patients meet with a genetic counselor prior to testing and everything was explained in excruciating detail, many patients will misinterpret, forget, and misunderstand most of the technical information about false positives, false negatives, and distinctions between diagnostic tests and screening tests. What is the best way for patients to make medically and emotionally informed decisions? Laboratory website are less than ideal sources of information. Websites are essentially marketing tools, and marketing is antithetical to nondirectiveness. Chatbots alone don’t cut it for this purpose, although they could have an ancillary role.

• What message does it send to people with disabilities, their families, and their advocates if we continually add, seemingly willy-nilly, more and more genetic conditions to the prenatal testing list, especially, as I noted above, if they obtain no tangible benefit from testing? More testing readily begets further routinization of testing. And when you start testing lots of pregnancies for lots of conditions, you start creeping further into eugenic territory.

There are no easy solutions to any of these questions. Some may very well prove to be unanswerable and some parties will remain dissatisfied if we do manage to come up with some answers. It will involve vigorous and at times contentious debates among multiple viewpoints, and lots of people convinced that they are so damned right and why the hell can’t everybody else see that? But that doesn’t mean we shouldn’t be taking on the challenge. We may wind up with less than perfect answers, but they will be better than what we are doing now. The practice of genetic counseling demands it and patients deserve no less.

__________________________________________________________________

*- Another source of confusion here is the distinction between the false positive rate and a false positive result. The false positive rate is the number of pregnancies that do not have a condition but test positive. Thus, a lab can accurately claim that cfDNA for microdeletions has a false positive rate below 1%. You can see why a patient with a positive result might misinterpret that to mean there is over a 99% chance that her baby does indeed have a microdeletion. On the other hand, a false positive result is one specific patient’s test result which incorrectly indicates that a condition is present. Thus a patient who has a positive microdeletion result has an 80-90% chance that her baby does not have a microdeletion. Lord have mercy! You can see why pregnant patients might be confused. Then try to sort through all that while experiencing the joys of hyperemesis, or if you are a non-English speaking immigrant from a village in Central America working through an interpreter, or if you are also trying to figure out at about the same time the meaning of your rubella result, your HIV status, your nuchal thickness scan, and the results of your carrier testing.

9 Comments

Filed under Robert Resta

The American Plan: The Incarceration and Forced Treatment of “Good Time Girls”

 this poster features an apparently average and conservatively dressed woman who might also pose a threat. Featured in the poster is the warning to all servicemen that 'She May Look Clean–But pick-ups, 'good-time girls' and prostitutes spread syphilis and gonorrhea. Publisher information at bottom of poster.

 

Every girl under supervision, we know where she works, who her friends are, and how she puts in her time….While the girls are in the hospital, we grade her mentally, and make a detailed social investigation… Her mental grading helps us in determining what she can do… We are locking up just as many feeble-minded girls as we can.  – Katharine Ostrander, Michigan State Board of Health, Director of Social Services (1919)

I recently became aware of a little known chapter in 20th century American history known as The American Plan, a chapter so creepy it could have been written by Margaret Atwood. While it is not directly connected to genetic counseling, the usual focus of this blog, as you will see it does intersect with eugenics. I feel it is shocking enough that it should be brought to the attention of the blog’s Good Readers; I suspect that many will be as stunned and surprised as I was. Most of what I have to say is drawn from Scott W. Stern’s 2018 book The Trials of Nina McCall – Sex, Surveillance, and the Decades-Long Plan To Imprison “Promiscuous” Women. Please note that in the posting I am using the  historical vocabulary of that time period to capture the zeitgeist of America in the first part of the 20th century.

The US entry into the First World War resulted in the drafting of nearly 3 million men into the military. Draftees were administered, among other things, an IQ test and a physical exam for social diseases, as sexually transmitted infections (STIs) were euphemistically labeled at the time (even the US Surgeon General was not allowed to say “syphilis” on a radio broadcast). The results were alarming – a substantial number of draftees had a very low IQ and a high incidence of social diseases. We looked like a nation whose men were sex-crazed morons (“moron” was a supposedly objective scientific category based on low IQ score). Perhaps many readers are thinking “Well, yeah, men haven’t changed much in the last 100 years”.

The Enemy in Your Pants – Mother Jones

Military and political leaders were concerned that the US fighting force would be defeated by its own diseases. To combat social disease the US government enacted The American Plan, based on similar plans from European countries. Some readers may be familiar with the cheesy posters warning soldiers in both World Wars of the dangers of venereal diseases but these smile-inducing graphics belie a dark side to some of the strategies employed by The American Plan. In an attempt to “protect” the troops from syphilis and the like, a range of laws and policies on the federal, state, and local levels were enacted that gave authorities and even some civilian entities almost blanket permission to arrest, isolate, examine, treat, and reform anyone suspected of spreading social diseases. Although the initial focus was intended to be communities near military camps, it soon spread to many towns and cities throughout the country, regardless of their proximity to military facilities. Every state and hundreds of cities and towns passed nearly identical versions of American Plan laws.

Multicolor poster with white lettering, depicting a woman standing outside a bar or dance hall. The woman has blond hair and wears a short-sleeved steel blue dress, pink bracelet, and blue ring. She has a dark red purse tucked between her arm and body, freeing up her hands to hold matches and light the cigarette dangling from her mouth. Her attractive features are hardened by her eyebrows coming together, as in anger, and a slight snarl on her lips. Initial title words at top of poster, remainder overlap woman's midsection. Artist's name in lower right corner. VDgraphic-25 appears in lower left corner.

Essentially, any woman suspected – not convicted – of being a prostitute, engaging in “promiscuous behavior,” premarital sex, or other “suspicious behavior” could be forced to undergo an invasive pelvic exam, almost always by a male physician. If the physician decided that the the person had evidence of a a social disease, they could be confined to an institution – a jail, a hospital, a “reformatory,” depending on local conditions. Whatever building or camp was used, the women were incarcerated, plain and simple. Once incarcertated they were forced to undergo largely ineffective, painful, and toxic treatments with a mercury- or arsenic-based regimen. This even though diagnosis was rarely definitive unless the person had flagrant disease; indeed, some women were diagnosed as being “slightly infected,” whatever that means. For good measure, many were also given IQ tests, and if they scored low enough they could be forced to undergo sterilization under some state eugenic laws. There was also a profit motive to incarcerating women; the Federal Government provided money to the states, and states passed the funds on to local authorities, with the amount depending on how many women were detained. 

 

Beware of Chance Acquaintances, American Society for Social Hygiene VD  Poster | David Pollack Vintage Posters

The policy was not limited to brothels and known prostitutes, who in fact usually had a low incidence of social diseases. Women of any age were forced into the program, including young teens and even pre-teens. It is astounding what could be labeled as a “suspicious behavior.” One woman was detained because a vengeful former boss reported her as sexually suspect after she quit her job. Another was detained after she volunteered as a witness to a car theft. Another was detained because she was on a date with a man who was drinking alcohol. Think about this. A woman might be flirting with a couple of guys in a dance hall or soda shop or go out for a drink on her own, or just be walking down the street in Anytown, USA in a “suspicious” manner and she could be forced to undergo a painful pelvic exam by a physician, confined to a treatment center for an indefinite period based on faulty testing and disease criteria, and then made to endure painful, debilitating and largely ineffective treatment until such time that the authorities had decided that she was cured and socially reformed. These incarcerations helped shape the modern American women’s carceral system, which currently has nearly a quarter million women within its walls.

Retro WW II Loose Women Loaded With VD Venereal Disease 45 Auto World War  Poster | eBay

It was felt that if women were reformed they would not return to their former loose life styles. Reform usually meant making them clean, cook, sew, and perform other activities – mostly to maintain the institutions where they were being incarcerated – that were thought be be appropriate for proper women. Authorities had the power to hold the women for days, weeks, or months until such time as it was decided that they were deemed medically and socially fit to re-enter society. Even after release, women could be required to check in with institutional directors for permission if they wanted to move, get a job, or even to get married. Some directors asked employers to monitor released inmates’ behavior and report suspected relapses.

The American Plan continued to be actively enforced for ~30 years until the end of WWII and the advent of antibiotic treatment, though there are reports of abuses until the 1960s (in 1965, the then 18 year old writer and radical feminist Andrea Dworkin was forced to undergo a painful pelvic exam under New York’s American Plan law when she was arrested at an anti-war demonstration). Not to worry anybody, but these laws are still on the books in most states and cities. 

Black women, Native American women, immigrant, and Latinx women were disproportionately singled out. Non-white women were said to have the racial characteristics of excessive promiscuity and – according to the Surgeon General of the United States! – to be anatomically susceptible to spreading social diseases. The laws were written as largely gender-neutral but men were only rarely singled out, and then usually just treated rather than detained for a prolonged period. The laws glossed over how men can transmit social diseases to other men; homosexuality was not something to acknowledge or discuss and, besides, it was already illegal in most states.

Because many records have been destroyed, the exact number of women subjected to this practice is not known, but at minimum it involved tens of thousands of women. Despite all this enforcement, the architects and enforcers of The American Plan were never able to demonstrate that it was effective in lowering the incidence of social diseases.

There is no fun in V.D." Anti-venereal disease poster, c. 1945.:  PropagandaPosters

The American Plan was not some dark government secret known only to an elite few insiders. It was widely reported and supported in newspapers and politicians of all bents, including Presidents, condoned it. Supporters – men and women alike – could be found across the political spectrum but there was particularly strong support among Progressives and liberals – the American Civil Liberties Union, the American Bar Association, Eleanor Roosevelt, Earl Warren (who would go on to become a liberal Chief Justice of the US Supreme Court), the League of Women Voters, to name a few. Some of these supporters criticized some specifics of the American Plan but they were not opposed to The American Plan itself. At the other end of the spectrum, Eliot Ness, he of The Untouchables, was actively involved in carrying out the plan at one point, as was J. Edgar Hoover and the FBI. They all pretty much thought they were doing good for society and helping women. Many of the key players in developing and carrying out The American Plan also subscribed to eugenic beliefs and were members of eugenics societies. A source of consistent and significant financial support for many of the activities, beyond governments, was John D. Rockefeller, Jr., and the Rockefeller Foundation (the Rockefellers also helped fund the Eugenics Record Office). Even when law suits were brought by women who had been incarcerated, the decisions sometimes supported a woman’s claims in a few cases but the legal validity of The American Plan itself was never questioned by the courts. 

Racist, sexist, rude, crude and dishonest: the golden age of Madison Avenue  .. 'because innocence is sexier than you think' | London Evening Standard |  Evening Standard

 

The primary non-governmental agency driving The American Plan was the American Social Hygiene Association (ASHA). Formed in 1913 with Rockefeller funding, the ASHA essentially crafted the details of The American Plan, provided expert advice to the government, employed undercover agents in cities to hunt out suspicious locations and field workers who would work with local police in coordinating arrests, and crafted model legislation that was adopted almost verbatim by most states. The organization also pushed for enforcement of American Plan laws beyond primarily protecting soldiers to protecting the general public. ASHA has since changed its name and is now called the American Sexual Health Association, and its activities and goals are quite different and perhaps more noble than those of its predecessor. However, its website makes no acknowledgement of this shameful history and has only this to say about its past:

“ASHA was founded as the American Social Hygiene Association in 1914 by a group of public health reformers committed to attacking an undesirable social condition–venereal disease, or VD–that they believed could be improved through medical and educational means. The shame and reluctance to talk about sexuality was now weakened enough so that the public was at least generally aware of the dangers posed by VD. This was the first social marketing effort to mix physical and moral fitness for prevention of VD.”

I am in no position to speak for the ASHA but if I were a member I would want my organization to be more honest, open, and reflective about its past.

Propaganda and the law of unintended consequences < Yale School of Medicine

I am reluctant to draw lessons from history and I am hesitant about judging the past through the lens of the present. With such widespread and enthusiastic support for The American Plan, if we were alive then many of us might have been swept up by the social currents of the times and supported it in some fashion, just like many of us would probably have embraced some aspects of eugenics. We are not morally superior to our ancestors and we are all products of our times. That being said, this was a gross injustice carried out in the name of “doing good.” It needs to be more widely known and subjected to scholarly investigation and a national dialogue, at the very least.

When you are so convinced that you are doing good it can blind you to your actions’ downsides. As I’ve written about before, genetic counselors are particularly susceptible to “do-goodism.” What looks progressive to one generation can look awfully repressive to another generation. When we seek to do good, we should do so with humility, an eye to history, and a keen awareness that when we try to do good we can wind up doing a lot of bad.



For an interview with author Scott Stern about The American Plan on YouTube https://www.youtube.com/watch?v=_p0LjJ8tTh0

For a podcast about this topic, see the History This Week Podcast: https://play.acast.com/s/d9768fa0-a79a-4ead-9102-f965e8a470bc/82177119-c36c-4a67-b906-94ae38000416



Unrelated to the above posting, I recently had a thirst for a dose of spirituality, a thirst perhaps driven by the existential wear and tear of the last few years. I am not a religious person – I am pretty much a we-are-all-star-stuff kind of person – but I do derive a deep satisfaction from contemplating the magic of life and the incomprehensible complexity of the universe. Which got me to thinking of the Indigenous Canadian singer Buffy Sainte-Marie’s 1969 song “God Is Alive, Magic is Afoot.” The lyrics are taken from a section of the poet Leonard Cohen’s novel Beautiful Losers. As far as I know, Leonard Cohen never recorded it as a song. Incidentally, Buffy Sainte-Marie’s music was unofficially blacklisted in the US for a period because of her anti-war activities and her involvement with the Native American political movement. Honestly, the song doesn’t make much cognitive sense to me, but it does make intuitive sense. In particular, the closing lines always give a jolt to my sense of wonder:

And mind itself is magic coursing through the flesh
And flesh itself is magic dancing on a clock
And time itself, the magic length of God

4 Comments

Filed under Robert Resta

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.

11 Comments

Filed under Robert Resta

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.

 

 

 

 

12 Comments

Filed under Robert Resta

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.

 

8 Comments

Filed under Robert Resta

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. 

 

 

 

1 Comment

Filed under Robert Resta

A Selective Amnesia – Sterilizing The History Of Genetics

We may be in the midst of a critical historical turning point in social justice. The confluence of the Black Lives Matter movement, #MeToo, and the COVID pandemic has led to the re-evaluation and re-surfacing of abuses, injustices, biases, and plain old hatred. Jimi Hendrix’s take on The Star Spangled Banner seems to be the right musical score for the moment.

Perhaps then this is a good time for geneticists to look in our own closet and assess some skeletons that we know are there but seem to prefer to ignore or downplay. A good place to start is with the American Society of Human Genetics (ASHG), one of the oldest and largest professional human genetics organizations.

So what is my gripe with ASHG, an organization I admire and respect? It all started when I used an internet search engine to look for the ASHG website to obtain information about the 2020 annual conference. Here is what popped up on my screen:

 

What caught my eye was the name right there in bright blue in the next to last line – Franz Josef Kallmann. Kallmann – more accurately, co-founder of ASHG, not founder – served as ASHG president in 1952. He is well known for his pioneering research in psychiatric genetics and who during his lifetime was respected by colleagues and a mentor to many.

But there is a darkness in his past. Kallman was born in Germany and eventually trained under Ernst Rüdin, who Adolf Hitler himself described as “the pioneer of the racial-hygienic measures of the Third Reich.” Under Rüdin’s influence, Kallman became an active supporter of Nazi policies and a member of the German Society of Racial Hygiene. In 1935 he gave a talk at the International Congress for Population Science in which he suggested that the mandatory sterilization programs of “defective” individuals should be extended to unaffected relatives of people with psychiatric disorders:

“…in regard to the recessivity and belated manifestations of the schizophrenic disposition, it is desirable  to extend prevention of reproduction to relatives of schizophrenics… and above all to realize this intervention for those undesirable  from the eugenic point of view at the beginning of their reproductive years” (italics added).

Ironically, Kallman, who was raised Jewish but who converted to Protestantism, was forced to flee Nazi Germany because of his ancestry. Even Rüdin couldn’t protect him. Once in America, Kallman, uh, reframed his life story by portraying himself as a victim of the Nazis. Nonetheless, he continued to support radical eugenic policies. As he wrote in a 1938 article, after fleeing Germany:

“From a eugenic point of view, it is particularly disastrous that these [schizophrenic] patients not only continue to crowd mental hospitals all over the world, but also afford, to society as a whole, an unceasing source of maladjusted cranks, asocial eccentrics, and the lowest types of criminal offenders.”

Kallmann remained a lifelong proponent of eugenics and maintained collaborations with Nazi colleagues through the 1940s. He served on the Board of Directors of the American Eugenics Society from the mid-1950s until 1965, the year he died. Furthermore, his views on homosexuality were on par with his views of mental illness, as demonstrated by this quote from an article he authored in the American Journal of Human Genetics in 1952:

“The urgency of such work [on genetic aspects of homosexuality] is undeniable as long as this aberrant type of behavior continues to be an inexhaustible source of unhappiness, discontentment, and a distorted sense of human values.”

I don’t think you can cite that statement as an example of implicit bias.

Kallmann was not an outlier when it comes to individuals associated with ASHG who espoused such policies and beliefs. Two others in particular stand out – William Allan and his protege C. Nash Herndon, who established the country’s first medical genetics clinic in North Carolina and made significant contributions to medical genetics as a clinical practice and as a profession. Herndon was president of ASHG in 1955. In 1961, ASHG paid homage to Allan when they created the William Allan Award in Allan’s memory (he died in 1943) “to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity.”

Herndon and Allan also played an active role in North Carolina’s robust eugenic sterilization program in the 1940s and 1950s (sterilizations continued through the 1980s). Nathaniel Comfort, in his book The Science of Human Perfection, notes that Herndon described the program as a “gradual, but systematic effort to eliminate certain genetically unfit strains from the local population of Forsyth County. Herndon actually performed some of these sterilizations himself. The program itself was fairly aggressive. As Herndon wrote

“We would see the targeted parents and children there [North Carolina Baptist Hospital]. I.Q. tests were run on all the children in the Winston-Salem public school system. Only the ones who scored really low were targeted for sterilization, the real bottom of the barrel, like below 70.”

Allan, on the other hand, was less concerned about “feeble-mindedness,” which he felt did not have a significant hereditary basis. But traits with a strong genetic basis were a different story.  Writing to Herndon in 1942 he declares: “Good old retinitis pigmentosa we can to go town on, since it is 100% hereditary.”

In addition to being president of ASHG,  from 1955-1959 Herndon served as the president of the Human Betterment League of North Carolina, a branch of the Human Betterment Foundation (a national organization devoted to, among other things,  preventing mental deficiency through sterilization) and president of the American Eugenics Society, an organization founded in 1926 by Madison Grant and Harry Laughlin, two of the most extreme American eugenicists.

Let me ask you ASHG membership and leadership, is Kallmann the name you want to represent your organization every time someone uses a search engine to find your society’s home page? Do you want an award named after someone, no matter how prominent, who so actively pushed for eugenic sterilization? Do you at least want to have something on your website that addresses these matters?  As a non-member, it’s not for me to tell you how to handle this, but don’t you think you should do something? Yes, I know I am judging the past by today’s standards. I am sure that Kallmann, Herndon, and Allan thought they were doing good, not bad; they probably never thought to ask for forgiveness. History and people are complicated. No one is a saint, not even the saints. No doubt in 50 years someone will look back with a similarly critical eye on how the genetic profession practices today. But advocating for mandatory sterilization in Nazi Germany and North Carolina and expressing professional disdain for homosexuality crosses ethical lines in any era. And don’t tell me that because it happened some 60 or 70 years ago, it no longer matters. We don’t live in the past but the past will always live with us.

None of this information is new. All of this has been written about before by scholars and researchers. I have been reading about it for decades. None of it required delving into obscure archives or interviewing historical figures. You can pretty much find it all with a couple of hours of PubMed and Google searches. It’s out there for anyone to see. Perhaps out of ethical convenience, though, the inaccurate story that we like to tell is that all that bad eugenics stuff took place before World War II, everyone got horrified by the Nazi atrocities, the underlying genetics was bad, then everyone saw the light, and all that bad stuff was behind us to serve as a moral lesson for future generations. Nice story, but wrong on the details. Many prominent geneticists remained active proponents of eugenic policies for decades after the war. They just didn’t call it eugenics or portrayed it as kinder, gentler eugenics. Or just ignored it altogether. It’s time to stop ignoring.

 

 

 

15 Comments

Filed under Robert Resta