Author Archives: Robert Resta

Work Shift: A (Wrong?) Prediction

Genetic counselors are engaging in a bit of preening now that CareerCast has listed our profession as the top-rated career for 2018. Actually, it’s a bit of history repeating itself. Back in 1980, the genetics equivalent of The Neolithic, I learned about the profession when I came across an article in Working Woman magazine (now defunct, and not to be confused with Working Women magazine, which is still in circulation) touting the top 10 careers for the modern woman of the 1980s. My other time-killing choices that day were People, Reader’s Digest, and Ranger Rick. If I had picked up a different magazine, well, just imagine Ranger Robert. Funny how our lives play out.  Incidentally, even today, National Society of Genetic Counselor (NSGC) membership is 95% female, so that article in Working Woman really had its finger on the socioeconomic pulse.

Ranger Robert. Graphics by Emily Singh

 

The CareerCast story appeared just a few weeks after the publication of the latest Professional Status Survey (PSS) by the NSGC. The two pieces got me to thinking about historical changes in the employment picture of the profession and eventually, perhaps after a beer or two, a prediction popped into my head about a trending shift in who employs genetic counselors. I am not the first to notice the trend, so my contribution is to suggest the extreme to which the trend will run as well as its implications.

My prediction is that within the next 5-10 years, a significant majority of US genetic counselors will be employed  by laboratories and other biotech firms, in both patient contact and non-contact roles, and, to a lesser extent, by private practice groups that offer their services over the Internet or whatever communication technology is predominant in 2025. Until about a decade or so ago, the vast majority of genetic counselors were employed by private and academic medical centers. This is still true; if I am interpreting the 2018 PSS correctly, about 2/3 of genetic counselors are employed by medical centers, public hospitals, HMOs, private hospitals, and physician private practices. However, there were also changes in the percentage employed by laboratories and biotechs. In 2010, 10.5% of genetic counselors were employed by labs and biotechs. By 2018, that percentage more than doubled to 22.5%, and another 2% of genetic counselor were employed by telegenetics companies in 2018 (the 2010 PSS did not have an equivalent category). In other words, about a quarter of the current genetic counseling workforce is employed by labs, biotechs, and telegenetics companies.

There are several factors driving this trend. First off, more laboratories are offering direct genetic counseling services to patients and thus need to hire more counselors  – Counsyl and its new owner Myriad Genetics, Color Genomics, LabCorp, and Invitae, to name a few. Second, salaries of laboratory genetic counselors are typically a good 20% higher (plus more to be made in bonuses and stock options) than those offered by medical centers, making labs more enticing to prospective employees. Third, more medical centers and large medical practices are looking to include genetic counseling among the services they provide to their patients. Since genetic counselors don’t typically generate enough income to pay their costs, medical centers may be relieved to have a laboratory provide genetic counseling to their patients, either on site or via telegenetics. Clinics would bear minimal costs and labs would get a pipeline for specimens. This in turn will create a competitive environment among labs to offer their genetic counseling services to more clinics to ensure they maintain reasonable share of the testing market. A lesser trend will be the growth of telegenetic services offered by dedicated telegenetic counseling companies and individual private practitioners (together, currently 2.2% of genetic counselors). I suspect this latter group will be limited in its employment share, in part because they will have a hard time competing with the deeper pockets of large corporations. The net effect will be that the percentage of genetic counselors employed by medical centers will decrease significantly.

A natural extension of this trend is that bigger labs will continue to swallow smaller labs, and mega-corporations will swallow the bigger labs. Its hard to fight economy of scale. Konica Minolta owns Ambry Genetics. Eventually BGI may get in on the act (then watch out!). Heck, it’s not out of the question that many genetic counselors could one day work for Amazon (see my posting Sour Grapes, a dystopian satire about this possibility).

Both good and bad will emerge from these trends. More patients will have access to genetic counseling through telegenetics, whether from labs or dedicated genetic counseling companies. With genetic counselors on staff, labs and medical centers can be confident that testing is ordered and interpreted appropriately, improving patient care and reducing economic waste. More career opportunities will open up for genetic counselors as corporations recognize their skills and smarts. Salaries and other benefits will likely become more generous.

There is plenty to worry about too, at least for professional fretters like me. With more mergers and acquisitions, there will be fewer employers of genetic counselors and so the field will lose some of its practice diversity. Employers will expect their employees to adhere to certain business practices and philosophies unique to each employer. Practice diversity has been a rich source and testing ground for new and different ways to conduct genetic counseling. More concerning to me is the potential loss of  carefully considered patient decisions about whether to undergo a genetic test. Acquisitions and mergers are driven by the desire to increase market share and market penetration, not by an altruistic urge to ensure that patients carefully consider the benefits, downsides, and psychological impact of genetic testing (although undoubtedly labs support the right of each patient to make independent decisions). This will become even more concerning  as labs are subsumed by larger corporate entities that are further removed from the practice of medicine and the ethos of genetic counselors, generating real concerns about conflicts of interest. Another possibility is that large labs will either set up or help finance genetic counseling training programs. Why not have a steady source of prospective employees who can be trained to develop skills and a counseling approach that are shaped to a particular corporate milieu?

I acknowledge that this is a very America-centric view of the genetic counseling profession. This trend may not play out to the same degree, or at all, in other countries. On the other hand, telegenetics knows no borders. Conseil Gènètique Sans Frontières. Governments are looking for ways to cut health care spending in the UK, Canada, and Australia, among others. International mega-corporations – Big Genoma – can offer enticing cost-savings to legislators looking to reduce expenses without increasing taxes.

Of course, like most prophets and self-appointed pundits, my predictions will be off, and perhaps even laughably so. The thing about the future is that nobody knows what it’s going to be like. So if you disagree with me, or are outraged by my thoughts, take solace in knowing that I will likely be wrong yet again. But I think there is enough meat on this bone that it’s worth chewing over.

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Is Test Uptake A Good Measure of Genetic Counseling Effectiveness? I Don’t Think So

The last few years have seen a growing trend for patients to undergo genetic testing without first seeing a genetic counselor or other genetic specialist. As I have commented before, genetic counselors are no longer the gatekeepers of genetic testing. Anyone can obtain DNA analysis through non-genetics specialists or any health care provider, on Amazon.com and other internet sites, and at their workplaces (which, honestly, makes me very uneasy; it is going to be awfully difficult for some employers to keep their noses out of their employees’ genetic information and it may provide an opportunity to chisel away at the protections afforded by GINA). Many genetic counselors have accepted this as a fact of life, even if we are not altogether comfortable with it.

Historically, the genetic counseling profession has done a poor job of demonstrating its value to the health care system. Our importance seemed pretty obvious to us and because we didn’t have much in the way of competition we were never strongly motivated to undertake large scale studies to prove our worth.

Comparative studies are starting to address the value of pre-test counseling by a genetic counselor, particularly in the field of hereditary cancer genetic testing. This as a good thing.  Still, it bothers me if studies claim that genetic counseling is failing patients because fewer people undergo genetic testing if they need to see a genetic counselor first. Sure, genetic testing should be readily available to those who need it, and barriers need to be removed. If seeing a genetic counselor turns out to be one of those barriers, then we need to do something about that. But test uptake may not always be in the best interests of patients.

For example, the most common reason an unaffected patient declines genetic testing after seeing me for hereditary cancer counseling is that, for the moment, they are the “wrong” person to test to most accurately determine their hereditary cancer risks. Even though the patient may technically meet standard criteria for genetic testing, they may still not be the best person to test within the context of their specific family history. Not undergoing genetic testing is not due to a lack of timely access to me, the cost of my services, or me somehow talking them out of testing. Instead, after reviewing their family history, it turns out that testing their mother with breast cancer or their brother with colon cancer is the most appropriate person to test before deciding if the patient and other unaffected relatives should undergo testing. If that affected relative has a normal genetic test result, then testing my patient and other relatives is usually a waste of money.

It is also difficult to interpret a negative test result in a family where a mutation has not already been identified. Now, I am a grizzled veteran of the Family Dynamics Wars, and I realize that sometimes that affected relative is deceased or just not willing to undergo testing, and you have to make do with the realities of the situation at hand. And, of course, this argument does not apply to testing patients who have been diagnosed with cancer (although it may apply in situations where patients meet NCCN guidelines but not their insurer’s criteria for coverage, but an affected relative does meet their insurer’s criteria). Still, testing an affected relative should be utilized whenever feasible because it is clinically and economically the most effective strategy. Therefore, if a study finds that test uptake is increased when patients do not first see a genetic counselor, the researchers are obliged to demonstrate that this is not simply due to more cases of the “wrong” person being tested or the providers not willing to take the time to work with the extended family.

Along these same lines, in many situations, even genetic test results of an affected relative are often uninformative for risk assessment. Such families may still need to be followed as high risk, with screening and risk reducing protocols based on family history and clinician judgment. Effectiveness studies therefore need to investigate whether there are differences in clinical recommendations provided to patients who see a genetic counselor compared to those who do not.

Studies of genetic counseling vs. no genetic counseling also need to provide data on patient adherence to screening and other risk reduction guidelines. Increased test uptake is not particularly helpful if patients do not have the motivation or wherewithal to undergo breast MRI, salpingo-oophorectomy, join the Annual Colonoscopy For Life Club, or whatever else is recommended. Other outcomes that effectiveness studies should address include communication of test results to family members, interpretation of variants of uncertain significance, and patients’ psychological adaptation to their risk status. I imagine many of you reading this posting can suggest additional outcomes that need to be addressed.

My other concern about reduced genetic counselor involvement with pre-test counseling is that “counseling” will eventually be reduced to a pamphlet or a brief video, perhaps provided by the testing lab itself. This is already a major concern with how NIPT is presented to pregnant women, and I can see it becoming a problem in other areas of genetic testing. No matter how earnestly labs may claim that their educational material is not a subtle sales pitch, they are only human and can easily be blinded by their business needs. This is an area where GCs can develop better and less biased educational materials.

If research demonstrates that other genetic testing delivery models are more effective than, or at least non-inferior to (non-inferior sounds like a back-handed compliment,doesn’t it?), the traditional approach of First See A GC Before Your Test, then the genetic counseling profession should re-focus itself and use our many other skills to work towards improving patients’ lives and the medical care system. Besides, I have never liked conflating genetic counseling with genetic testing.

I do worry, though, that either the research will not be conducted, or that, even in the face of evidence to the contrary, market forces will dictate testing strategies. I am not concerned that it would portend the end of the genetic counseling profession. Genetic counselors are forever expanding their professional roles, and in fact have continually reinvented themselves since, well, we first invented ourselves in the 1970s. Like David Bowie, we never stood still and as soon as you had us pinned down as Ziggy Stardust, all of a sudden we were Aladdin Sane, and already sprouting within him are the seeds of The Thin White Duke (well, okay, it’s a stretch comparing genetic counselors to David Bowie, but you get my point). What matters is that all patients affected with or at risk for hereditary disorders receive the most competent and compassionate care delivered effectively, equitably, and timely.

Bobbin Sane
(Graphic by Emily Singh)

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Medical Strategy or Marketing Strategy?

A well-known direct-to-consumer (DTC) genetic testing company now has FDA approval to include a very limited form of BRCA testing with its DNA genotyping product. I refrain from mentioning the company’s name because they already got enough free press from the announcement. You probably know what company I am referring to, and if you don’t, well, follow the above link. Sorry Unnamed Company, but I am not going to make the free advertising that easy for you, no matter how insignificant the source. Besides, I see it as a bigger issue than just one company’s policy.

For now, the analysis is limited to the three BRCA1&2 mutations that are more common among Ashkenazi Jews. Actually, the company offered the same 3 mutation test until they were slapped with a cease and desist letter from FDA in 2013 to stop all medically related testing. So this new announcement amounts to a resurrection of a nearly decade-old policy, not a groundbreaking innovation. Funny, though, that there was not this much to-do when the test was first offered.

The genetic counseling community is in a bit of a dither about this, including me, though admittedly part of the reason I am writing this blogpost is to help me figure out just what I am dithering about.

Some of the concerns are obvious. People may be under the misconception that a negative result = no increased risk of hereditary breast/ovarian cancer and thus some high risk women may forego potentially lifesaving surgery and appropriate screening strategies. Then there is the worry that patients will not follow through with genetic counseling if the testing is positive, or that high risk patients will not seek genetic counseling and more testing if the result is negative. If you are not Ashkenazi Jewish, the test does not seem to offer much benefit. And even for Ashkenazi Jews, the testing does not include the ~10 other genes linked to hereditary breast cancer and the ~10 other genes linked to hereditary ovarian cancer.

The company recommends verifying positive results with an experienced clinical lab.  For that matter, then, why not verify a negative result, if there is that much uncertainty? Why bother having a test if you can’t fully trust the result? I suspect though that there is probably little reason to doubt the test result and that the company makes this recommendation to keep FDA happy and to minimize their legal exposure rather than concerns about assay validity.

Incidentally, the cost of the company’s product is really not much different than the more comprehensive multigene hereditary cancer panels offered by some of the clinical testing labs, and in some cases more expensive.

Eight years ago I shared my first experience with a patient whose BRCA carrier status was detected through DTC testing. My patient’s experience and a few more cases I encountered since then have not been that different than my patients who went through the usual counseling and testing process. A 2013 study by the company  showed that the 11 women and 14 men who discovered their BRCA status through DTC testing had experiences similar to my patients. That last statement is brimming with caveats – small sample size, at least for my patients they were savvy enough to want to see a genetic counselor, personality traits of the earliest users of new products, no long-term follow-up, etc. But I am not aware of any independent, large-scale studies of patients who learned their BRCA status through DTC testing to more definitively address the pros and cons, other than studies offering BRCA testing that targeted all Ashkenazi Jewish women.

I readily admit that I may be proven wrong, but I am guessing that most of the consumers of this DTC product – note they are not patients because the test is not intended for clinical use – will opt to learn their BRCA status. After all, people have this testing to learn about their genetic makeup. I am also guessing that this may be the company’s proverbial toe-in-the-water; I would not be at all surprised if additional clinically useful testing is part of the company’s future product and marketing plans.

At heart, I don’t like the idea of DTC BRCA testing. I think about all the ways it can go wrong, and inevitably some of those ways will come to pass. But will it go right often enough, and go wrong infrequently enough, that there will be adequate benefit to justify offering DTC testing? Undoubtedly, some of my uneasiness stems from a professional conflict of interest; DTC eliminates my role as an interface between patients and testing. Personally, I think being a middleman is a good thing because it can help patients take a thoughtful deep breath before leaping into the gene pool. But that could be because I have been trained to think that way and because it supports the value of my professional career. What I really should want is for patients to have access to genetic information in a manner that is affordable, accurate, psychologically and emotionally appropriate, and medically useful. If DTC and other forms of offering BRCA testing works for many men and women, then I should swallow my professional pride and acknowledge it.

So having stewed on this for a while, I have come to the realization that my argument isn’t with this company per se. Other companies aggressively market hereditary cancer and other genetic testing to average risk people. For example, one company approached my institution with the idea of offering their product to all women coming in for breast imaging, with saliva kits kept in the mammography center along with a prescription pad with a genetic counselor’s name on it acting as an ordering provider for the test (legal in my state). Although many labs employ genetic counselors who work directly with patients to review test results, this is still not the same experience as meeting with a genetic counselor before undergoing testing to explore the complex medical and psychological issues surrounding genetic testing. And the highly respected Dr. Mary-Claire King has advocated for population based genetic screening for establishing hereditary breast cancer risk. Are DTC clinical testing and other consumer-friendly strategies disruptive ideas that will bring about much-needed change or are they just bad but well-intentioned ideas that will also fill company’s coffers and keep investors happy?

Having sifted through and weighed my thoughts and feelings about DTC testing or other genetic test delivery models, I have concluded that my problem is not with DTC or other models per se. My argument is with how these new testing approaches are introduced into clinical practice, typically under some version of the banner of liberating testing and bringing it to the people. I do not doubt the labs’ sincerity when they say they are trying to improve access to medical care and reduce the suffering from cancer and other illnesses. But these are as much marketing strategies as they are medical strategies. Labs should not be calling the shots on the introduction of new tests and practice models because, in the absence of well designed studies, we really have no idea if these new approaches are effective in reducing cancer risks and increasing high risk screening when indicated, or if they are in the patients’ best emotional and psychological interests. Just throwing a mess of tests out there and encouraging everyone to take one is, in my view, irresponsible.

A better approach is to first conduct controlled and ideally randomized studies that evaluate both new and novel testing strategies to determine the most beneficial one(s) for patients, or if different types of patients benefit differently from different strategies. For example, age, family history, medical history, psychological functioning, and socio-economic status could all conceivably affect outcomes, not too mention the all too real possibility that many Americans may lose health insurance in the near future. While labs should play a critical role in that evaluative process, to keep it as clean as possible the studies need to be conducted and overseen by researchers who have no financial benefit from the outcomes of such studies.

We are in this together, so let’s work together.

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Is A Lab A Health Care Professional? An Update On “Everyone’s Worst Nightmare”

Two years ago I authored a blogpost, Everyone’s Worst Nightmare , about a family’s experience with genetic variant interpretation, communication (or lack of) by healthcare providers with families, and an outcome that couldn’t be more tragic – the death of a child. Here I am providing an update on the legal status of the lawsuit brought on behalf of the child by his mother. In my original posting, I did not identify the child’s syndrome or the specific court case. However, since then, the story has been picked up by a variety of media outlets (Turna Ray at GenomeWeb has done the best reporting on the details) and it now being a matter of public record, I have included some particulars here .

Briefly, the story began about 12 years ago when the child was experiencing multiple, intractable seizures and had a clinical picture consistent with Dravet syndrome. Unbeknownst to the parents, genetic testing was ordered and the child was found to carry a mutation in SCN1A, the gene linked to Dravet syndrome. The mutation was interpreted as a variant of uncertain significance, though at the time there was reason to believe that it could be pathogenic. Based on the genetic test result, it was felt that the child did not have Dravet syndrome and was kept on a sodium channel blocker, which unfortunately is contra-indicated for patients with this syndrome. Not long afterwards the child died of seizures at the age of two.

The patient did not find out that genetic testing had been performed until about 7 years after the test was ordered. Shortly after the mother learned of the test result and inquired into its meaning, the lab reclassified the variant as pathogenic.

In February 2016 the mother initiated a lawsuit on behalf of her deceased child in the fifth judicial circuit court in Richland County, South Carolina. The defendant’s lawyers requested that the case be dismissed on the grounds of restrictions imposed by the state’s statute of repose, i.e., a law that states legal action must be initiated within a certain period from the time the alleged offense occurred (it is similar to but slightly different from a statute of limitations). The defendants presented the argument that a genetic testing laboratory is a licensed health care provider and South Carolina has a 3 year statute of repose for lawsuits brought against licensed health care providers. Since the events took place a decade ago, the defendants asserted that the case should be dismissed. The plaintiff countered that, under South Carolina state law, a genetic testing lab that is separate from a hospital or a clinic cannot be considered a licensed health care provider and therefore the statute of repose did not apply. The plaintiff contended that this is a case of ordinary negligence, not medical malpractice, since the lab should not be considered a licensed health care provider and therefore the suit should be allowed to proceed.

The case was then sent to the US District Court in 2017 to rule on whether dismissal was warranted based on the defendant’s argument that the lab is a licensed health care provider and therefore the statue of repose applies. The federal judge then referred the case to the South Carolina Supreme Court to, as the legal lingo goes, certify the question of whether a lab can be considered a licensed health care provider under the specific provisions of South Carolina Code of Laws Section 38-79-410. Although we may have our individual opinions on this question, it is strictly a matter of law that varies by state. South Carolina law defines a licensed health care provider as “physicians and surgeons; directors, officers, and trustees of hospitals; nurses; oral surgeons; dentists; pharmacists; chiropractors; optometrists; podiatrists; hospitals; nursing homes; or any similar category of licensed health care providers.” (italics added)

The South Carolina Supreme Court heard the case on February 14th, 2018. For those of you who have never witnessed a state Supreme Court hearing, I recommend that you watch the ~40 minute video of the session. The court’s decision, which will be about whether the suit can proceed rather than determining liability, will depend on how it interprets whether a laboratory is a “similar category” to the health professionals listed in the state code. I thought that the five justices were insightful and asked thoughtful questions. As a side note, at about the 29-30 minute mark of the hearing, Justice Few gives a shout out to our genetics colleagues at the Greenwood Genetics Center.

The court does not have a set date on when they will issue an opinion; as the Supremes, they call that shot (the South Carolina Supreme Court’s motto is Nil ultra, which roughly translates as “Nothing is above us”). Typically, though, the time frame on a ruling is in weeks or months. If the court decides that the lab is not a healthcare provider, then the plaintiff’s suit will be allowed to continue, though I got the sense that the court felt that even if the ruling were in favor of the defendants that the plaintiff may still have alternate legal pathways to pursue a case. I will keep the good readers of The DNA Exchange posted on important developments in this case, which I suspect will continue to drag on for some time after the Supreme Court’s ruling.

With the rapid expansion of genetic testing in the clinical and consumer spaces, and the growing involvement of non-genetics professionals in ordering genetic testing, bad clinical outcome scenarios are likely to become more common. Critical questions about variant interpretation and legal liability aside, from a genetic counseling standpoint, this case highlights the importance of clear and ongoing communication with patients and their families about the limits and clinical interpretation of genetic testing. This can be extraordinarily difficult when a family is trying to cope with caring for a child with a life-threatening disease, but genetic counselors are trained to work precisely in those situations. Genetic testing may be simple to order and widely available but it benefits no one without good clinical care and counseling.

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The Rhythms of Silence

“It was a silence filled with many things going on in it.”

– Dorothy Parker

Shut my mouth.  That is one of the hardest things for me to do during a genetic counseling session, though paradoxically it is among the simplest. Despite decades of experience as a genetic counselor, I still have a tendency to dominate my interactions with patients. Maybe all of us are guilty of this to varying degrees. To some extent, it is a natural by-product of a clinical service with a significant educational component. Dialogue easily morphs into monologue.

But genetic counseling does not end at education. Instead the counseling component simultaneously flows from and shapes the educational aspects. I sometimes need a virtual dopeslap upside my head from Jon Weil’s or Seymour Kessler’s spiritual avatar to get things back on track.

How We Talk, a book about conversational analysis by the linguist N.J. Enfield, has helped heighten my awareness of my tendency to dominate counseling sessions. And it is a lot less psychologically painful than Jon’s or Seymour’s dopeslaps.

A typical conversation flows with a rhythm guided by timing cues. Speaker A says something and then Speaker B seamlessly follows with a response to what Speaker A just said, and so the conversational turn-taking flows through to the conclusion of the conversation. In normal everyday conversation the average length of the transition between when Speaker A stops speaking and Speaker B responds is ~200 milliseconds. Literallly in the blink of an eye Speaker B recognizes that it is the appropriate time to speak and has a response ready. The brevity of the silence interval is mute testimony to the stunning complexity of the human brain. Conversation is like a John Cage musical composition based on a pattern of silences. Silence is to conversation as zero is to numbers.

Of course, there are within- and between- individual variations in any conversation. There are also differences between languages, but the differences are slight. For example, in the Mayan language Tzeltal, the average transition time is 67 milliseconds, in Italian it is 310 milliseconds, in Lao it is 420 milliseconds, and in Danish it is 470 milliseconds. English is just above average at 236 milliseconds. No doubt a Dane would drive a Tzeltal speaker crazy with the extended transition time, but the difference between the languages is under half a second, within the range of an eye blink.

The dialogue from the screwball comedies of the 1930s and 1940s move along at dizzying speed because we perceive the transition times as almost non-existent. The great screenwriters intuitively understood this and Cary Grant, Katharine Hepburn, et al., effortlessly deliver witty repartee that leaves your brain gasping for breath.

When the transition time exceeds a half second, and especially as it approaches one second, Speaker A perceives the response as taking too long and tends to jump back into the conversation, “out of turn.” This One Second Rule is called a standard maximum silence. It is often more than a matter of Speaker B needing more time to formulate a response to a complex statement or question. The longer than expected delay can communicate that Speaker B thinks the response is “non-preferred,” that is, something that Speaker B feels may not be the reply that Speaker A wants to hear. And when Speaker A jumps in out of turn, Speaker A will re-phrase in a way that makes it easier for Speaker B to give a non-preferred response. Subtle non-verbal emotional interplay takes place in the space of a silent second. The silence of the iambs. The following fictional counseling scenario demonstrates this:

Scenario A

Counselor: So, do you think you want to undergo this genetic test?

(1 second pause)

Counselor: You don’t have to make up your mind right now.

(800 millisecond pause)

Client: Well, the test could be helpful. I am not sure about my insurance coverage, though.

Here, the 1 second pause suggests that the patient may not want the test, and the “long” pause pushes the counselor to jump in and say something that makes it easier for the patient to decline testing. The patient replies in a way that that the patient feels the counselor prefers to hear – the test is important – but bringing up insurance coverage gives the patient a “legitimate” reason to decline testing. Even though the counselor may feel that she or he was non-directive, the patient may have picked up on a message that perhaps the counselor thinks the patient should undergo testing, even if the counselor is not saying it in so many words.

Generally, Yes/No responses that occur within the first half second of a transition are perceived as more definitive whereas responses that are closer to one second or longer are usually interpreted as ambiguous. The following fictional exchanges between a counselor and a client illustrate this:

Scenario B

Counselor: So, do you think you want to undergo this genetic test?

(200 millisecond pause)

Client: Yes.

 

Scenario C

Counselor: So, do you think you want to undergo this genetic test?

(1 second pause)

Client: Um (3oo millisecond pause) it might be a good idea.

In Scenario B, the short transition time of the client’s response suggests a strong desire to have testing. However, in Scenario C, it takes the client 1.3 seconds to arrive at a form of Yes, the hesitancy in the response possibly reflecting a hesitancy to undergo testing. The interjection “Um” before saying “Yes” reinforces the perception of ambiguity. This 1+ second difference in transition time is a clue to skilled counselors to more deeply investigate the patients’ desires and reasoning, even though the counselors and the clients may not be consciously aware that clients are communicating clues to their ambiguity.

Of course, in the context of a counseling session, a delayed response could be due to the cognitive processing required to comprehend technical medical information or it could be due to psychological processing of an emotionally laden discussion. Which, to some extent, is the point here. A genetic counseling session is not usually an ordinary conversation (though a skilled counselor can make it appear that way), so the turn-taking of the speakers can be expected to have a different rhythm and follow different timing cues. But because we are so subconsciously attuned to the rhythm of normal conversation, the tendency for genetic counselors to sometimes dominate a session may stem in part from relying on the wrong timing cues and to speak out of turn before patients are ready to articulate their thoughts.

An interesting research project would be to record counseling sessions with the purpose of timing transitions between counselor and client. This could then be correlated with outcomes such as patient satisfaction and uptake of recommendations to see if they were influenced by conversational transitions. Transition times could also be used to guide the development of better counseling skills by helping the counselor to understand ways that transition times were used appropriately or inappropriately during the course of a counseling session.

To be sure, transition times are not the only non-verbal influence on the rhythm of a conversation. Posture, gestures, facial expressions, and eye gaze can influence the flow of conversations and serve to articulate the psyche. Reading the body of clients is as important a skill as being attuned to their verbal language. People are generally less aware of their body language and thus it can more “honestly” and directly reveal underlying psychological and emotional processes than verbal language.

It is extraordinarily difficult to be keyed into what Enfield calls “the inner workings of conversation,” especially in the moment of the conversation. It involves unlearning, or more precisely becoming aware of and being able to manipulate, a language protocol that has been subconsciously engrained into us since we burst out of our amniotic sacs. Becoming a good counselor is not simple nor is the path always straight. The graph of professional growth follows a jagged and at times recursive line. There is no breakthrough moment when you permanently become the genetic counseling equivalent of a Jedi Master, able to manipulate the Counseling Force to your will and you are infused with Yoda-like wisdom. Easy it is not.

 

 

 


Thanks yet again to Emily Singh for help with graphics.

 

 

 

 


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Imperfect Pregnancies: What Ilana Löwy Has To Tell Us About The History of Prenatal Testing

“It seems to me that all the gentlemen agree, some more explicitly than others, that to abort is a good thing and should be encouraged.”
– from a discussion reported in Early Diagnosis of Human Genetic Defects: Scientific and Ethical Considerations, Maureen Harris (ed). National Institutes of Health, 1970.

I sometimes feel like a lone voice howling in the wind-swept darkness when I argue that any opinion, policy, or analysis of prenatal testing must be rooted in historical context. Often these endeavors are informed by technical aspects of a test, such as sensitivity, specificity, cost, and positive predictive value, sometimes accompanied by vague mumblings about “ethical considerations” and “women’s choices.” But these discussions are inadequate unless they also take into account the historical, social, cultural, and economic factors behind the development, expansion, acceptance, and critiques of genetic testing technologies.

To develop a full understanding of prenatal testing, we need to ask difficult questions with thorny, complicated and uncomfortable answers. What was the impetus for the introduction of prenatal diagnosis in the 1960s and 1970s? Why were researchers studying birth defects, cell culturing techniques, and karyotypes at that particular time? How have changing attitudes toward disability, abortion, and reproductive rights shaped, and been shaped by, prenatal diagnosis? What path does a test follow from being offered to a very small and select percentage of the pregnant population to becoming a routine part of every pregnancy? Why are there regional and historical differences in the acceptance, application, and history of prenatal testing? Why is it nearly impossible to have a discussion about prenatal screening that is not also a discussion about abortion?

Well, I don’t feel so lonely anymore after having read Ilana Löwy’s new book, Imperfect Pregnancies: A History of Birth Defects & Prenatal Diagnosis (Johns Hopkins University Press, 2017). The title pretty much tells you what the book is about, but it is more than just a recitation of discoveries and events. The author, an emerita research fellow at the French National Institute of Health and Medical Research, argues that prenatal testing can best be understood in the context of Michel Foucault’s concept of a dispositif – loosely speaking, the institutions, social factors, laws, regulations, scientific and professional practices that create, maintain, and reinforce a body of knowledge and give it power (no doubt some Foucault scholar will take issue with my description, but you get the general idea). But Löwy’s book is not a high falutin’ study of abstract theories of knowledge. It is concretely embedded in a richly detailed analysis – some of it original and some of it summarizing the work of others – of how we have arrived at the point where prenatal testing, particularly ultrasonography and now NIPT, has become integrated into the routine care of nearly all pregnant women in many Westernized countries.

Let me acknowledge some intellectual conflicts of interest up front: the author cites some postings to The DNA Exchange by me and others, references some of my publications, and thanks me – among many others – in her introductory section. No doubt these small ego strokes influenced my perceptions of the book in ways that I can’t fully recognize.

Imperfect Pregnancies opens with the somewhat artibitrary but reasonable starting point in the late 19th century and the work of obstetricians John Ballantyne and Adolphe Pinard, in Scotland and France respectively, on the nature and causes of birth defects and the medical supervision of pregnancy that they felt was necessary to ensure the delivery of a healthy baby. From there she ties in the history of cytogenetics and karyotyping, congenital malformations and dysmorphology, the emergence of amniocentesis and prenatal ultrasonography in the 1960s and 1970s, the introduction of serum and sonographic screening for Down syndrome in the 1980s and 1990s, and right up to the  latest testing technologies of the early 21st century such as comparative genomic arrays and noninvasive prenatal testing (NIPT).

This is not a scolding work that draws a straight historical line from eugenics to prenatal diagnosis. While eugenic criticisms are certainly valid concerns about the potential ramifications of prenatal testing and that is true that the development of prenatal diagnosis was a clear reflection of negative attitudes toward disability, the Eugenics Movement per se was not a driving historical engine behind prenatal testing. Still, Löwy makes it clear that prenatal diagnosis was established in the context of a public health model to permit and passively encourage abortion (as the introductory quote at the start of my posting suggests) of aneuploid or otherwise “defective” fetuses under the justification of allowing parents to have as healthy a baby as possible, and that was maintained by the social, ethical, medical, legal, and economic factors that made this possible (i.e., the dispositif). Pregnant women were enticed by tests that offered reassurance but some were left with the messy situation of what to do when the testing did not come back with normal results and had to make extraordinarily difficult decisions about how to proceed in largely uncharted territory, a situation genetic counselors know all too well. In the words of one researcher, women were forced “to become skilled managers of fetal risk.”

The author brings an international perspective to her narrative, including experiences with prenatal testing in the US, the UK, France, Israel, Brazil, and Scandinavia, among others. Prenatal testing is managed differently in each country according to unique local circumstances and this has an impact on uptake of testing and abortion. For example, in the Netherlands, where a detailed discussion of screening is routinely incorporated into pregnancies largely by midwives in a non-medical setting, the uptake of testing is much lower than in countries where there is less discussion and is physician driven. In Brazil, where abortion for fetal indications is limited to anencephaly, the uptake of NIPT is much greater among upper socio-economic status who have access to safe (if technically illegal) abortion compared to poorer women who do not have such ready access. Laboratory marketing has taken advantage of the social status associated with having the latest medical tests among Brazilian women, especially during pregnancy, to further integrate NIPT into routine care. In places around the world where women are likely to leave the work force and devote themselves full-time to child rearing, the uptake of prenatal testing and abortion is lower than in areas where women continue to work after childbirth.

The limitations of the early technologies are somewhat shocking from the biased perspective of today. When John Edwards analyzed the unbanded karyotype of  the first patient with his eponymous syndrome, he thought the underlying cytogenetic abnormality was trisomy 17 rather than trisomy 18 until Klaus Patau (who first described trisomy 13) set him straight. In Riis and Fuchs first reports of prenatal diagnosis of fetal sex among hemophilia carriers in Denmark in 1960, one woman proved to have a female fetus that she miscarried after amniocentesis, went on to have another female fetus that also miscarried after amniocentesis, a third pregnancy that was a male and was aborted, and finally had a fourth pregnancy in which the patient successfully carried the pregnancy to term after a female fetus was correctly identified by amniocentesis (I can envision many prenatal genetic counselors simultaneously nodding and shaking their heads right now). Of the first 20 attempts at identification of fetal sex among hemophilia carriers in Riis and Fuchs series, 17 were successful, two resulted in failure to establish fetal sex, and one female fetus was mistakenly identified as male and the pregnancy was terminated (I can hear many prenatal genetic counselors now saying “Ouch!”).

There are a few areas I think the author leaves largely under-explored. Although she gives thoughtful discussion to genetic counselors, I think she understates their importance in ushering in, shaping, and managing each new prenatal testing technology. We have been the boots on the ground as each test was introduced into clinical practice, more or less left alone with patients to negotiate the complicated medical, ethical, and psychological ramifications of “simple blood tests” and “routine sonograms” gone awry.

In the early sections of the book Löwy details the role that obstetricians played in the historical pathways leading up to prenatal testing. However, there was little mention of the obstetricians who worked closely with clinical geneticists and sometimes became board certified in genetics themselves in the 1970s and 1980s – Mickey Golbus, Larry Karp, Mike Mennuti, and Joe Leigh Simpson, to name a few.

I would also like to have seen fuller discussion of the Professional Liability Alert issued by the American College of Obstetricians and Gynecologists in May of 1985, which stated: It is now imperative that you investigate the availability of these tests in your area and familiarize yourself with the procedure, location, and mechanism of the follow-up tests to screen for neural tube defects. Although to the best of my knowledge no one has ever studied the impact of this Alert on the uptake of maternal serum screening in the US, I know that the immediate  impact in my neck of the woods was profound and long-lasting. Most of the obstetrical care providers in the Seattle area suddenly started strongly recommending AFP screening to their patients and it set the tone for the ready acceptance of most other prenatal screening tests that followed over the next 30 years. Although the book briefly mentions obstetricians’ concerns about legal liability, she does not go further down this street and I believe incorrectly attributes it to the AMA’s “concerns.”

But these latter points do not detract from the overall achievements and arguments of Imperfect Pregnancies. If you are a supporter or a critic of prenatal testing, or, like many people, decidedly ambiguous, there is much that you will learn and much that will make you pause and re-examine your own views and knowledge base.


NEWS FROM AROUND THE DNA EXCHANGESupport The Genetics Literary Community

I am delighted and excited to announce that The DNA Ex’s own Laura Hercher is now also contributing an online column for Genome magazine called GenomeCulture. Read her first installment When Genetics Race Problems Rears Its Ugly Head.

Tony Holzman, now retired from Johns Hopkins and who contributed so much valuable research on the social, ethical, and psychological aspects of genetics, is now a novelist. He has published several novels including Blame, about murder and intrigue in genetics research at the NIH. Tony is now working on publishing his newest novel, The Bethune Murals. The novel is based on the true life story of a physician who was diagnosed with TB and was confined to the Trudeau Sanitarium in the 1920s and who produced a remarkable set of murals on paper used to wrap laundry at the institution. Tony is looking to self published his book through Amazon but needs to get enough votes in an Amazon competition. If you have an Amazon account, you can vote for Tony here.

 

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Is Down Syndrome Disappearing? Well, Not Exactly But….

Iceland has given the world the Eddas, Sigur Rós, Björk, and some magnificent geology.  A more ambiguous achievement, though, is suggested by a recent CBS News story that claimed that Down syndrome is disappearing from Iceland as a result of prenatal testing. The claim has been bouncing around the Internet for a few years. The earliest reference I could find was a November, 2015 letter sent to the Office of The United Nations High Commissioner for Human Rights authored by Downpride, an international advocacy group for people with Down syndrome. The letter is an “[a]ppeal to the United Nations to stop discriminatory use of prenatal genetic screening aimed at eradication of people with Down syndrome and other groups.” It was, in my view, an understandable and justifiable reaction to largely non-critical widespread adoption of Noninvasive Prenatal Testing (NIPT) from a community that has good reason to be concerned. Needless to say, it generated a lot of heated reaction. Just Google “Iceland Down syndrome” and you will see what I mean.

Delving into the story was like getting lost in a hall of mirrors; many sites simply referenced each other. But the claim that Down syndrome is disappearing from Iceland and that 100% of pregnancies with Down syndrome in Iceland are terminated turns out to be not quite so straight-forward. While Iceland represents a microcosm of the larger concerns of people with disabilities, their families, and their supporters, it is not necessarily an accurate reflection of the macrocosm of the larger population dynamics of Down syndrome in other countries, particularly the United States.

The ultimate source of the data, according to the Downpride letter, was testimony presented to The Althing, the Icelandic parliament that is the world’s longest existing legislative body. I tried unsuccessfully to find that testimony. I then searched PubMed but found only limited help. So I decided to do my own back-of-the-napkin calculations. I obtained the birth distribution by maternal age in Iceland for 2016, and grouped the ages by quinquennia. The expected frequency of Down syndrome was based on data from 1976, prior to the advent of widespread prenatal diagnosis.

Age Group # of Births Exp. Frequency of Down S. Exp. # of births with Down S.
15-19 72 1/1667 0
20-24 592 1/1587 0.37
25-29 1305 1/1087 1.2
30-34 1218 1/763 1.6
35-39 672 1/248 2.7
40-44 165 1/79 2
45+ 10 1/24 0.4
Total 4034  1/488 8.27

 

Thus, in Iceland in 2016, there were 4034 births. In the absence of prenatal diagnosis and selective termination, 8 or 9 babies with Down syndrome would be born, for a frequency of ~1/450-500 births. I then made the following assumptions, acknowledging that each has some potential error:

  • Based on a 2016 publication, about 80% of pregnant Icelandic women will choose to undergo prenatal screening
  • According to Dr. Hulda Hjartardóttir, chief of obstetrics at Iceland’s National University Hospital, among Icelandic woman who have a positive screen, about 25% decline diagnostic testing and continue the pregnancy. Thus, roughly 1/3 of Icelandic pregnant women either do not undergo screening to begin with or decide to continue the pregnancy and not proceed to diagnostic testing if a screening test is positive. The impact of these percentages on Down syndrome frequency depends on the age distribution of those who declined screening or diagnostic testing, but for argument’s sake, I assumed an equal distribution across maternal ages.
  • 100% of women whose pregnancies are diagnosed with Down syndrome will choose to terminate. I could not verify this claim, but I decided to go with the most extreme scenario. This has not been the experience in many countries, where termination rates have been high but not typically 100%.
  • The CBS News story mentions the Combined Screen, so I assumed this was the standard screening test in Iceland when the claims were made in The Althing. I therefore set the detection rate for Down syndrome to 90%, that is, of all women undergoing screening, about 10% of pregnancies with Down syndrome will be screen normal and would not proceed to termination (some studies suggest that the Combined Screen may have a sensitivity somewhat less than 90% but because about 21% of pregnancies in Iceland occur in women 35 and older, a higher sensitivity – and false positive – rate is expected).

Based on these assumptions and the above table, of the potential 8-9 babies born with Down syndrome, about 2-3 would actually be born because their mothers did not undergo either prenatal screening or diagnostic testing, and another baby with Down syndrome would be born because the Combined Screen would be expected to miss about one case. In other words, the total number of newborns with Down syndrome in Iceland would be expected to drop from 8-9 every year to about 3, maybe 4, per year. These numbers could increase or decrease with many factors, such as changes in fertility rates, maternal age distribution, the sensitivity of screening tests, social trends that influence the choice of abortion, and random fluctuations that occur with any demographic trend especially with the small number of births in Iceland (about that many babies were born last year in the hospital where I work in Seattle). If readers know of empirical data from Iceland to support or refute my estimates, please share it.

Of course, for advocates, every loss of a pregnancy with Down syndrome is serious, no matter how small the number. But these estimates put the concerns in some perspective. Among other things, it is fair to say that most, but not 100%, of pregnancies with Down syndrome are terminated in Iceland, and the birth prevalence of Down syndrome in Iceland is falling considerably but not likely, in my view, to disappear entirely.

I think a more realistic picture of the impact of prenatal screening on Down syndrome, in the US at least, is provided by Brian Skotko and his colleagues Frank Buckley, Jennifer Dever, and Gert de Graaf in a recent publication in the American Journal of Medical Genetics. Over the last few years, they have consistently provided some of the most reliable estimates of the demographics of Down syndrome and the effects of prenatal screening.

According to the de Graaf et al. paper, a detailed look at changes over time in the demographics of Down syndrome in 9 states, the number of people living with Down syndrome has steadily increased since 1950. The two major factors driving that growth have been longer survival due to better medical care along with the unrelenting trend of the last 35-40 years of delayed childbearing. This growth, however, has been partially offset by a loss of births with Down syndrome due to prenatal screening. The loss varies with geographic region, but overall, the prevalence of Down syndrome is roughly 70% of what it would be if prenatal screening were not available. Interestingly, the most growth in the Down syndrome population occurred among Hispanics and Native Americans. So, unlike the near elimination of Tay-Sachs disease in many Ashkenazi Jewish communities, the prevalence of Down syndrome is dropping, but not close to disappearing, at least in the US.

Other factors may affect the Down syndrome birth frequency, such as changes in maternal age distribution, availability of abortion, and access to health insurance. For example, in the highly unlikely event that every woman 35 and older refrained from pregnancy, the birth frequency of Down syndrome in the US and many Western European countries would be reduced by more than 50%. On the other hand, if abortion were to become illegal (not highly unlikely), then presumably the birth frequency of Down syndrome would increase. Limiting access to good medical care (unfortunately also not highly unlikely in the US) could lower the overall prevalence of Down syndrome because of reduced survival.

Current trends suggest that, for the immediate future, prenatal screening will continue to reduce the birth prevalence of Down syndrome. It is becoming increasingly easier for women to undergo prenatal screening and more difficult to just say no. This is due to aggressive marketing by commercial labs of “newer, better, bigger, cheaper” screening tests like NIPT; the dearth of time and resources devoted to unbiased education about Down syndrome and the pros and cons of screening tests; inequitable social distribution of medical resources and social support; and the rarity of long, difficult discussions between pregnant women/couples and their providers about whether they should even enter the prenatal screening cascade to begin with. It also does not help matters that the current US President lacks any moral decency and takes pleasure in mocking people with disabilities.

Although I am a strong supporter of women’s reproductive rights and well-informed, gut-wrenching decisions to terminate a pregnancy, it is becoming increasingly difficult to provide ethical justification for further expansion of prenatal screening, or expanded carrier screening for that matter. This is something that society needs to address but particularly genetic counselors because we are in the thick of it.

As I have previously argued, almost no research has been conducted that has tried to demonstrate whether prenatal screening can improve the medical, social, and emotional lives of people with disabilities and their families. Some women undergo prenatal screening because they think it will prepare them for raising a child with Down syndrome, but we really can’t tell them if screening does help or if it is worth their emotional and psychological investment. Carrying out such research is critical. If we can demonstrate broader benefit of prenatal screening, then we can open up a dialogue with the disability community rather than continue the shouting matches, and offer greater and more equitable justification for NIPT and other screening technologies.

Or we can continue shouting at or dismissing one another.

 

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