What A Mess

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

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

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

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

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

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

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

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

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

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

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

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

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When Good Genetic Counselors Are Bad Role Models

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

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

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

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

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

 

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

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

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

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

 

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

 

 

 

 

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JOAN H. MARKS 

In Memoriam

1929-2020

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

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

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

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

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

Joan Marks: One of a kind

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

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

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

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

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

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

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

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

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Orig3n of the Specious

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

 

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Selective Amnesia, Part 2: Guardians of The Gene Pool

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

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

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

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

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

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

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

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

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

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

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

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

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

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

 

 

 

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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.

 

 

 

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Will Coronavirus Burst The Genetic Counselor Employment Bubble?

The last decade has been boom times for genetic counselor employment. According to the 2020 NSGC Professional Status Survey (PSS), the number of genetic counseling jobs has doubled since 2010. Students are recruited for positions before they have graduated. The average starting salary for a genetic counselor right out of school is $12K a year greater than the entire profession’s average salary was in 2010. The highest salaries now exceed $200K. A genetic counselor with 5 years of experience can expect to make nearly as much as I do with 37 years of experience. If I were to go back to genetic counseling school and start my career a second time, I would probably be born again as a new counselor with a higher salary than what I currently earn (Hey Program Directors, think about what a headache it would be to have me in your next class!). And the 2020 PSS projected an even rosier outlook for the coming decade.

And then our parade got rained on by a storm of evil little droplets of RNA+protein. The US medical care system is facing the paradox of going broke while the urgent demands on medical services have never been more critical. By one prediction, the US health care system will lose two hundred billion dollars in the 4 month period from March to June. Those lap chole’s, knee and hip replacements, cardiac stents, and c-sections really drive hospitals’ bottom lines. It’s hard to believe that the rest of the year is going to look much better. I doubt that the US government will demonstrate the competence, unity, or interest to meaningfully mitigate the health care system’s financial woes, unless maybe New Zealand allows us to borrow Jacinda Ardern for at least 4 years.

It is not likely that genetic counselors will escape unscathed. So last week I informally surveyed the NSGC listservs (aka forums) about how the pandemic has impacted genetic counselors’ jobs. Here are a few replies about what some genetic counselors have experienced so far (anonymity preserved):

  • Partial furloughs
  • Lay-offs
  • Reduction in hours
  • Pay cuts
  • Reduction in non-salary benefits
  • Mandatory paid time off
  • Drops in referrals
  • Changes in job responsibilities from patient care to research and other duties
  • Job offerings withdrawn

It’s hard to know how prevalent these problems are because the “research” design and data have more limitations than a teenager who skipped school to go drinking with her boyfriend and wrecked her mother’s brand new car. But they do get your attention.

Like the virus itself, the impact on employment seems to hop, skip, and jump across the country. Some genetic counselors reported no effects at their institutions. To which I would add – at least, not yet. The health care system has just recently come up for air and many employers have not had the chance to fully assess the financial fallout. Early reports from well-respected commercial laboratories, who employ around 20% of genetic counselors, are worrisome too. Myriad reports that revenue has dropped 20-75% across its battery of tests. Invitae has seen testing volumes start to drop and has laid off some staff. These may very well be temporary setbacks and sales may rebound once the whole Covid thing cools off, whenever that might be. But they are not exactly encouraging signs. I am also curious to hear from our international colleagues about the pandemic’s impact on genetic counseling jobs outside of the US.

Once the worst of the pandemic is over, recovery is not likely to be a smooth and rapidly rising curve, even if – fingers crossed and offerings to St. Roch – the virus doesn’t return with a vengeance. Unemployment in general will be high and fewer people will have health insurance, and thus there will be fewer dollars to spend on medical care.

Christ Appointing Saint Roch as Patron Saint of Plague Victims, by Peter Paul Rubens.

Genetic counseling positions may not be high on the priority list of administrators if or when they look to restore lost positions in the future. In the grand tradition of administrators everywhere, they will look to cut costs and may replace only a portion of the lost genetic counseling positions. Hospitals and clinics may decide to shift genetic counseling responsibilities to other staff, such as medical assistants or nurse practitioners, or farm out genetic counseling positions to lab-based counselors, telehealth services, or even chatbots and videos. Older counselors may be nudged towards retirement. Expect paring back of support staff; executives always seem to forget that receptionists, schedulers, and the like are critical to running a hospital and cutting their salaries amounts to a hill of beans in overall budgets. Layoffs just about always come back to bite employers on the ass, and still they act surprised to find teeth marks on their buttocks.

The effects may even be felt in research funding. The NIH slated ten billion dollars for genetic research in 2020. Next year legislators and funding agencies may be more interested in diverting research funds to infectious disease research, prevention, and epidemiology. It’s hard to imagine someone running for political office on a platform of more money for genetics research and less for infectious disease research.

Oddly enough, current genetic counseling students may be better positioned than more experienced counselors. The salaries of genetic counselors with 5, 10, 20 years of experience can get pretty pricey for employers looking to save money. Why not hire somebody fresh out of school who would be paid a lower salary than a veteran?

I am not sure what the response of the profession can or should be. I think I have to leave that up to wiser minds than I possess. Perhaps the NSGC wants to start documenting the coronavirus job impact in a systematic way and plan a targeted PR push during the pandemic recovery focused on the value of genetic counselors in delivering health care. Training programs may think about scaling back admissions until the impact becomes clearer. Maybe the Accreditation Council for Genetic Counseling (ACGC) wants to slow down the approval of new programs. Genetic counselors may need to be more flexible about what they consider to be their scope of practiced and how genetic counseling services should be delivered.

Or maybe none of this will come to pass and by September we will resume our lives with some semblance of normalcy and a minimum of economic and existentialist wear and tear. I know I sound like Mr. Gloom and Doom, which is not really the voice you want to hear in these dire times. I understand why you might want to cover me in Greek fire, shoot me from a mangonel out and over the city walls, or disembowel me (my imagery is heavily influenced by a book I am reading  about The Crusades, or as they are known in the Middle East, The Latin Invasions). So you can take heart in that fact that, like almost all predictions, there’s a pretty good chance I will be wrong yet one more time. But we shouldn’t stick our heads in the ground in an attempt to protect ourselves when the sky really is falling.


Thank you to Emily Singh for help with graphics.

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Huh?

Lecturing patients is a lousy genetic counseling strategy. It presumes that the genetic counselor has superior knowledge and the respectful patient will listen to our learned words to make a perfectly logical decision about whatever it is they are seeing us about. But people don’t work like that, and while you are busy lecturing patients they are thinking about what to make for dinner that night, noticing the food stain on your shirt, or wondering if you will ever stop that incessant droning. Wise counselors instead prefer to reciprocally engage with patients and work together in symbiotic harmony to help the patient arrive at a cognitively and emotionally sound choice about whether to undergo a test, share information with family, undergo risk-reducing surgery, or whatever else is a critical issue for them. Victory all around; good counseling leading to good patient outcomes, and everyone is content.

Okay, so maybe genetic counseling doesn’t play out like that all the time. But it is a noble goal towards which we strive, however imperfectly.

You try to do your best to respect patients’ values and choices. Nonetheless, you can feel like a failure when a patient makes what appears to be a ridiculous decision. We’ve all been there, in its many permutations. The 55 year old BRCA1 pathogenic variant carrier who declines a risk-reducing saplingo-oophorectomy after she has tearfully confessed her deep-seated fear of ovarian cancer. The patient with a cardiomyopathy who has spent the last 30 minutes explaining that he wants testing so his young adult children can manage their risks accordingly – and then declines testing because he “doesn’t want to burden them with the knowledge.” The 33 year old, a mother of two young children, with newly diagnosed triple negative breast cancer who chooses treatment with antioxidant supplements and dietary changes over chemotherapy. Makes you want to pull your hair out (although seeking professional supervision might be a more fruitful pathway than self-inflicted alopecia).

Your first reaction is shock and disbelief. Huh? Was that patient in the same room as me? Did she not hear anything at all about what we discussed? Is she an idiot? I know you are not supposed to think that your patient is an idiot but sometimes those thoughts sneak in unbidden before your professional filter has a chance to block them. Hopefully that filter will kick in before you actually call the patient an idiot.

Or you may get defensive about it. Come on, lady, I know that I did a good job with you in there. I listened to you, we explored your thoughts together, I checked in regularly to make sure that you understood the key medical issues and how they impact your life. I validated and respected your feelings. I had the same interaction with my previous patient and she chose to have the surgery. How can you not uphold your end of the contract?

Mostly, though, such reactions reflect our personal and clinical insecurities. Any reflective counselor will – and should – have a healthy dose of insecurity and humility. Such seemingly outlandish decisions can be perceived as a threat to your professional ego and competence. What did I do wrong? Obi-Wan Counselor, my role model, would have handled this so much better. If she counseled her, that patient would definitely have chosen risk-reducing surgery. I am so incompetent. But I got news for you – there’s a darn good chance that Yoda-like role models still have many moments just like this. Perfect counselor no one is.

There could be several factors underlying what appears to be poor patient choices. Patients may be grappling with emotionally and technically complicated information that they just haven’t worked through yet and just choose something, anything, to get on with their lives for now. There may be a deeper psychological issue subconsciously driving patient choices, such as dealing with the long ago death of a loved one, confronting one’s own mortality, or fears of medical procedures because, when it comes down to it, who wants to be cut open. The expertise of a more skilled therapist may be required to address the situation.

Also, let’s face it, sometimes people just make dumb decisions, no matter how smart and psychologically together they are and how good your counseling skills are. We all do, at various times. Driving a car after wine and drinks with dinner, engaging in a flirtation or an affair when you are in a committed relationship, smoking cigarettes, crossing the street unsafely, spending money for an 18th pair of shoes when budgets are tight. There’s nothing too bright about any of those behaviors, although you have to be careful if you try to point out that a decision may not seem particularly good. It could alienate the patient, if not done just right. But I would argue that we all have a right to make what seem to be dumbass decisions.

Consider too that it is virtually impossible for anyone to know what will turn out to be a good decision. Any choice that tries to anticipate the future is so inherently complicated and filled with uncertainty that what seemed like a good idea at the time may eventually turn out to be an awful choice, and vice versa. All kinds of unanticipated outcomes or unknowable problems can arise. Serious complications might develop after risk-reducing surgery. Your beliefs, spirituality, perspective, and values may evolve over time. You had sworn off children and then you fall head over heels in love with someone and all of a sudden you want to start a family. You have a test for the sake of your family and then your family decides they really didn’t want the information and wish you hadn’t done it. You spend half your life worried about colon cancer and then you’re a victim of a pandemic. No one knows how the Cosmic Vanna White will spin her Rota Fortunae.

Rota Fortunae - Wikipedia

There’s no cookbook genetic counseling recipe that magically transforms people into rational and emotionally consistent decision makers. People are people in all their splendidly glorious contradictions and sometimes they are gonna’ do what they are gonna’ do. Sometimes we can guide them and sometimes we can’t. And sometimes, even when they don’t know it, they know what they are doing. Or they learn to live with their choices. That’s life and we can’t deny it.

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The Way To Go: Reflections On A Good Death

My mother died about a month ago, just shy of her 88th birthday. Her death was caused by metastatic lung cancer (for those who reflexively ask the question – no, she was not a smoker).  Her death was not the result of  COVID-19 but the pandemic’s emotional and medical toll has helped me put her death in perspective. And if I am honest with myself, I am engaging in some very public grieving here. This if the only time I ever shed tears while writing this blog.

Although my family and I are deeply saddened by the loss of our mother, her death has helped me understand the terms under which I want to prepare for and face my own – hopefully distant – death. My mother had several wishes about her death, all of which she managed to fulfill. Most importantly, she wanted to die before her children died. She often said that you know you’ve lived too long if you have outlived your children. Second, she wanted to remain independent. Which she did, in her cherished Brooklyn apartment overlooking the salt marshes of the Marine Park Nature Preserve until the last 2-3 weeks of her life, doing her own cooking, cleaning, shopping, and socializing. Third, she remained cognitively intact; a few days before her admission to the hospital, she was working a NY Times crossword puzzle. Miraculously, the metastases that punctuated her brain did not seriously impair her stubbornly strong cognition. Fourth, she did not have a long disease course; it was only a few weeks from diagnosis to death. Despite the advanced stage of her cancer, her breathing and overall functioning had not recently been deteriorating any more than one might expect in an 87 year old. This bomb more or less dropped out of the blue. Finally, she faced death with a dignity and acceptance I hope I will be able to emulate one day. She thoughtfully weighed her treatment options and firmly but politely declined any interventions. When she went into hospice care, she told the social worker that she had come there to die as peacefully as possible.

From a practical standpoint, my mother was very frank and organized about anticipating her death. Her savings and possessions did not amount to much but years ago she made sure that all four of her children were aware that every important bit of paper was neatly labeled and filed in one place. She even prepared a list of wishes – her Casket List, if you will – for her funeral and burial, including her choice of funeral home, cemetery (with my father), Catholic church for her funeral mass, and list of songs to be played at the service. Let me pass along one bit of advice – do the same, and do it now during your in-place sheltering. One day your grieving family will love you even more deeply for having done this.

Fortunately, my mother’s death occurred barely a week before the coronavirus pandemic hit New York City. This allowed me to spend two weeks in Brooklyn with my mother, visiting her in the hospital and in hospice, holding hands and comforting one another, and I was able to return for her funeral. Two of my sisters were with her through the agonal breathing up to the moment of her death; my mother died surrounded by love. My heart goes out to anyone who has been robbed by this cursed pandemic of the ability to be together as a family in the face of death and dying.

I was grateful too that my parents, a pair of  life-long office clerks, somehow managed to raise a medically sophisticated family. Two of my sisters are physicians, which, along with my own experience in the oncology world, made it much easier for us to grasp the medical issues at hand and allowed us focus on our grief and support for one another. We didn’t have to worry about trying to comprehend arcane medical terms, weigh the ins and out of  complex treatment options, or worry if my mother was getting good medical care (at Brooklyn Methodist Hospital – NY Presbyterian, ironically the very hospital she was born in, she received superb and compassionate care from bed pan cleaners to nurses to medical specialists).

My mother’s journey to death even had a darkly humorous moment that happened while I was staying in her apartment. After undergoing a diagnostic lung biopsy, my mother experienced the not uncommon fentanyl side of effect of severe hallucinations. Early one morning, while I was still sitting around in my pajamas and sipping a cup of tea, the doorbell rang. I opened the door to find a pair of police officers and a pair of EMTs. Apparently my mother called 911 from her hospital bed, claiming that she had been tied up by a bunch of doctors who were forcing her to stay in a locked closet in her apartment. I was met with a skeptical stare from the police officers when I said “Oh don’t worry. My mother is on fentanyl and she is just hallucinating again.” At that point, I figured I had to let them in and have a look around just so they could be sure about things.

My other expression of public grieving took place during her funeral service when I delivered her eulogy. Like my mother, it was short, sweet, and to the point. I have reproduced it here and hope that I have adequately captured the essence of her life in a few words:

My mother is in Heaven right now. Surely someone with so much love in her heart and in her life is guaranteed admission, no questions asked. St. Peter had those gates opened and he was waiting for her with an eternal welcome.

I suspect that the afterlife has not changed my mother much. So, even though it’s only been a few days, by now I am pretty sure that she knows the life stories of most of the saints, has prepared several meals and desserts for the angels, and right about now she is sitting down with God, and, over a cup of tea, giving him her thoughts on how things should be run around here. And when she listens to the Mets’ games in Heaven on her transistor radio – surely an omnipotent God can arrange this for her – she might even ask God to give the Mets a bit of a divine helping hand every now and then. They could sure use it.

The love that earned my mother her heavenly reward is the same love that formed the emotional center of our family’s universe and held us together in the face of our many wanderings around the country and the world. That love though did not die with my mother. She taught my sisters and I life’s most important lesson – how to love. In that way, my mother lives on in the love that my sisters and I share for one another. And she lives on in the next generations as our children and grandchildren form new families and new, widening circles of love. One could ask for no greater gift.

Goodbye Mom. We love you.

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