Tag Archives: Genetic counseling

by | January 30, 2013 · 5:42 PM

The Resta Paradox: On The Perception of The Likelihood of Rare Events

Genetic counselors – and their clients – tend to make a big to-do about numbers. We expend a disproportionate amount of energy  calculating, reciting, and explicating numbers such as the complication rate of amniocentesis, the likelihood of Down syndrome, bayesian probabilities, or empirical recurrence risks. Sometimes we even pull them out of thin air. Those statistics pass through patients’ psychological, cultural, social, and educational filters and out of the other side comes a figure that more often than not bears little resemblance to the number that went in.

Counseling strategies attempt to reduce anxiety by downplaying large numbers when it comes to undesirable outcomes (“A one in four recurrence risk means a 75% chance that it will not happen again”) and reframing small numbers for patients who perceive a low likelihood outcome, such as 1/500, to be a very “high” number (“One in five hundred means there is over a 99% chance this will not happen. If you were to score a 99+% on a difficult test in school, you would be very happy. That’s an A+!”).

But reframing can sometimes backfire. For many patients, rare events are paradoxically perceived to be more likely to occur than high likelihood events. The rarer the event, the more some patients are convinced that it will happen to them. This phenomenon, which I have immodestly labeled The Resta Paradox,* is a sort of corollary to Murphy’s Law.

Just about every genetic counselor has heard some variation of this statement “I know that one in 50,000 is pretty unlikely, but if it’s going to happen to someone, it’s going to happen to me.” To demonstrate how he or she is one of those people whom the Gods have chosen to be the object of their malefic whims, patients will then cite a litany of rare catastrophes that have previously befallen them:

  • “My surgeon said she never had a patient develop a complication after surgery, but I got an infection.”
  • “One time, a piece of an airplane broke off, fell put out of the sky and crushed my car.”
  • “I took lisinopril and developed a never before reported side effect and I was in the hospital for a week. They even wrote an article about me” (The patient will then look at you, hoping that you will say that you were familiar with the article).

The seemingly contradictory availability heuristic for these patients is “Rare events have happened to me before. Therefore, I am likely to experience rare events in the future.”

In my favorite example of how reframing can sometimes spectacularly go awry, a colleague once described to me a genetic counseling session in which she told the patient that the risk of recurrence of the particular disorder was as likely as getting struck by lightning. The patient replied “As a matter of fact, I have been struck by lightning.”

Such magical thinking is surprisingly common. It does not necessarily mean that a patient suffers from innumeracy. Most people are perfectly capable of balancing their checking accounts, completing income tax forms, and accurately summing long columns of numbers. Complications arise, though, when patients try to assign an emotional value to a number or a risk, especially when trying to make a complex medical decision.

I have also encountered The Resta Paradox among patients who make their living off of understanding numbers, such as statisticians, engineers, and epidemiologists. Even these professionals have a hard time comprehending rare events and very large/small numbers in psychologically and personally meaningful ways.  Life is complicated and highly unpredictable, and we all try to make sense of it however we can, sometimes in seemingly inconsistent ways.

And you can call me Mr. Guilty too. At my institution’s Tumor Boards, I am infamous for frequently stating that I worry most about my low risk patients who undergo BRCA testing, since they always seem to test positive for a mutation while my highest risk patients almost never carry a mutation. Interestingly, in support of my paradoxical thinking, BRCA risk carrier prediction models tend to under-predict carrier status in low risk patients and over-predict carrier status in high risk patients, so perhaps my thought process is not entirely magical. Or maybe computers engage in magical thinking too.MR900283911

On a deeper psychological level, believing oneself to be a statistical outlier may be part of the general impulse to view oneself as special, a way of saying “I have an unusual trait that makes me different from others in an interesting way.” It may also be a defense mechanism to psychologically prepare for a bad outcome so that, should it occur, the individual is better prepared to deal with the stress.

The Resta Paradox serves to remind us of a lesson we seem to need to be reminded of repeatedly: Numbers, though a critical component of many genetic counseling sessions, are not the endpoint by which to measure the effectiveness of genetic counseling, but rather are the point at which genetic counseling begins. It’s not the number that matters; what is important is how and why that number matters to the patient.

* – Hey, it’s a lot better having an insightful paradox named after me than a medical syndrome.

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by | November 18, 2012 · 2:04 PM

Guest Post: Information Detoxification

By KATIE STOLL
Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetics.
 

I did not have a vision of motherhood from a young age. In fact, I don’t think I really even considered the idea of having kids until some unexpected biological switch flipped in me. Do you remember that scene in the 2009 Disney Pixar film, Up when Ellie and Carl are watching the clouds roll by and suddenly they all start to resemble babies? That is the way I remember feeling. It was as if out of the blue, having a baby was all I could think about.

Although this need to have a baby seemed to come from some emotional and primitive place, I wanted to be organized about my approach. I scheduled a “preconception” appointment and asked my husband about his thoughts on genetic screening. As a genetic counselor working in a prenatal setting, testing guidelines were imbedded in my mind – and I knew very well what testing options should be available to me. My husband thoughtfully asked, “If we are both carriers for cystic fibrosis or something else, does that mean that we are not going to have a baby?”

Whoa. What would we do if were both carriers??

While I am incredibly grateful that my husband was insightful enough to have asked this question, it is humbling for me to admit that it was him and not me who brought this to the table. After all, isn’t this genetic counseling 101? I realize now that while I had considered this question hypothetically many times previously, without the vision of parenthood, I did not appreciate its magnitude.

What followed were many conversations about how we felt about assisted reproductive technology and prenatal diagnosis.  We tried to imagine what it would be like to have a baby with a genetic condition or disability. What it would be like not to have a baby. These conversations were pivotal for me both personally and professionally. It was then that I truly began to realize the tremendous and complex affect these once seemingly “simple tests” may have.

Professional guidelines regarding prenatal/preconception screening emphasize the importance of informed and autonomous decision making . The listed critical components of the informed consent process often focus on statistical risks and the clinical details of the condition being screened for. Underemphasized is the importance of consideration of what this testing will mean for the individual or couple. How might a positive test affect their hopes and dreams?  How might it change their path in pregnancy?

When an individual would use results to facilitate reproductive decisions, testing can be empowering. What is sometimes overlooked in our well-intentioned goals to provide patients with knowledge however, is the potential harm and disempowerment that may result when testing information is not desired.

Currently a minority of our patients will have an abnormal test result but we must remember that the emotional impact for those individuals can be life changing. I have known many who meet abnormal or unclear results with guilt, fear and confusion.

The term “toxic knowledge” has been used to describe genetic information that individuals may regret learning, following a prenatal genetic test (Bernhardt 2012). With the flood of new testing options, I am concerned about the potential increase of toxic knowledge and how this will play out in people’s lives. How will it change the pregnancy experience?  The relationship between parent and child? The way people view themselves?

I know very well the comfort and safety that can be found in the scientific facts, procedures, clinical prognosis and statistics.  There is so much information that is important for us to convey. I write to encourage you to go a step beyond that information and to delve into the heart of what this testing may be about for the person sitting in front of you. That person may be a patient you are seeing for the very first time – it may be your spouse, your child or a dear friend.  It can be incredibly challenging to sit with someone and help them see how testing may impact their path in life, especially if that path seems very different from one you would take yourself. However, profound satisfaction may result through using your skills to support someone as they find their own way. What drew me initially to this field was a love of the science and my desire to share my knowledge with others. Although I still love this aspect of genetic counseling, what I now find most gratifying is working to advocate for the needs, hopes and dreams of the people I work with.

I imagine we have all had some personal experiences that have altered the way we practice as genetic counselors. I would love to hear your experiences and any thoughts you may have about toxic knowledge.

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by | November 11, 2012 · 4:43 PM

Resistance Is Futile: A New Paradigm for Genetic Counseling?

For with this detection there arises new lines of approach in the field of preventive medicine, and the sociological consequences may be far-reaching.

– James V. Neel, from his 1948 plenary lecture, “The Detection of The Genetic Carriers of Hereditary Disease”, delivered at the first annual conference of the Human Genetics Society of America (which eventually changed its name to the American Society of Human Genetics)

The technical advances in genetic testing over the last 5 years have been stunning. Much of what I thought of as Not Going To Happen For A Long Time  has now happened yesterday. Along with these breakthroughs is the unstated but increasingly common suggestion that everyone should taste the fruit of testing in Gregor’s Genetic Garden of Eden.

In the old days (like a year or two ago) only a small portion of the patient population were thought to be candidates for genetic testing, those for whom it made medical sense and who were emotionally ready for the ramifications of the knowledge. Genetic counselors used their skills to help patients select the appropriate test and to guide them through the clinically, emotionally, and financially complicated decision-making process. Some chose to undergo testing while others delayed or declined it. We did not really care what patients chose to do; our role was to go through the wringer with them.

Now, though, this model of genetic testing only for the select few may be replaced in the near future by the idea that everyone – healthy, sick, high risk, low risk – should have genetic testing. Population scale genetic testing, with its promises of personally tailored medical care and better health outcomes, assumes that everyone – except for a handful of Luddites, people who do not own mobile phones or have Twitter accounts, Flower Children, and conspiracy theorists – will incorporate DNA into their routine medical care. Genetic testing becomes a foregone conclusion, not an ethically and emotionally weighty matter to be carefully explored and considered. If everyone has a genetic test and everyone carries gene mutations, doesn’t that make everyone a patient?

Think I am overstating my case? Perhaps. Then again, recall the many professional and popular articles you have read that are variations on this theme: The time is near when you will walk into your doctor’s office with an inexpensive DNA Chip that contains your entire genome and that will guide your doctor in choosing the best medications for you and select the most effective screening tests. You will live to be 100, enjoy a lusty sex life, and have healthy children. While the $1000 genome may not be a shining example of truth in advertising, affordable genetic testing is upon us.

A second case in point is the introduction of cheap carrier testing for a huge number of mostly obscure genetic conditions, what has come to be called Universal Carrier Screening. I will risk stating the obvious and point out that the word “universal” implies that the test is for everyone. At $99, it is hard to say no.

A third case in point is newborn screening, which is as close as it gets to universal genetic testing. The conditions screened for with those heel sticks continues to increase but the primary justification is not “treatment before symptoms develop.” Rather, testing is predicated on reducing the number of families caught in The Diagnostic Odyssey, that emotionally and financially draining parental journey to find out what medical disorder their child may have. Based on this premise, there is no logical stopping point for including disorders in a newborn panel. Every genetic disease is a potential source of a diagnostic odyssey. In fact, the rarer the syndrome, the better it is for inclusion in newborn screening since uncommon conditions are less likely to be diagnosed by most practitioners.

Another area of pervasive genetic testing is the recommendation for universal fetal aneuploidy screening during pregnancy, made even more tempting by high detection/low false positive non-invasive tests.

Genetic screening is offered to everyone prior to conception, during pregnancy, and at birth. Testing all adults allows the rest of the camel into the tent.

Genetic counselors are not the driving force behind universal genetic testing, although undoubtedly we have some complicated role. As I have discussed elsewhere, we probably have less influence on patients’ decisions than we  think. Larger social, economic, and ethical forces are at play, in much the same way that the introduction of amniocentesis, newborn and carrier screening, and the birth of the genetic counseling profession were all products of their times.

The role of genetic counseling when it comes to genetic testing, then, may no longer be primarily to help patients make decisions. Instead, genetic counselors may become Phenotype Counselors who interpret and integrate results of genetic tests that were run – and possibly chosen through online services – before patients walked into our offices.

Ilana Löwy’s book “Preventive Strikes: Women, Precancer, and Prophylactic Surgery”

If I am right, genetic counselors are likely to encounter controversies and dilemmas. Ethical values like nondirectiveness and autonomy become less forceful if individually tailored health strategies can help prevent or attenuate serious illness. Think of how many  oncologists consider their high risk cancer patients crazy for not having BRCA testing or believe that known BRCA mutation carriers are making poor choices for not undergoing risk-reducing surgeries.

Eugenic concerns, the voice and dignity of the disability community, the psychological sequelae of coping with test results, and worries about the other downsides of genetic testing may be pushed to the wayside by the power of the still unproven assumption that medical spending will become more cost-effective, clinical decisions will be wiser, and everyone will be healthier if their genomes are analyzed. In fact, people with disabilities themselves will likely see some treatment and diagnostic benefits from genomic testing. And because laboratories and lab-based counselors will likely play critical roles, defining and protecting against conflict of interest becomes even more critical and complex.

Both good and bad will come out of universal DNA testing, though it is difficult to predict what measure of each. But so much genetic information available on so many people must give one pause. The history of genetics demonstrates that every advance in genetics is fraught with social complexity and dangers. We may have a more sophisticated knowledge of genetics than our predecessors, but we are neither wiser nor more ethical.

I  close by reminding you that knowing our past helps us better understand why we are here and what may happen if we go there. To that end, let me bring to your attention two recently published books about the history of genetic counseling and the history of medical genetics: Telling Genes: The Story of Genetic Counseling in America by Alex Stern (The Johns Hopkins Univ. Press, 2012) and The Science of Human Perfection: How Genes Became the Heart of American Medicine by Nathaniel Comfort (Yale Univ. Press, 2012). The authors, my good friends and colleagues, provide an informed and critical historical understanding of  genetic counseling and genetic medicine. Everyone should read these books. It will do your souls – and your counseling philosophy – good.

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by | October 30, 2012 · 3:45 PM

What Genetic Counselors are Talking About

Last week, I attended the National Society of Genetic Counselors (NSGC) Annual Education Conference in Boston. Although I attended talks on a variety of subjects, where possible I chose sessions focused on new genomics technologies and associated issues. There were some common threads tying these discussions together beyond ‘genomics’ itself. Here’s a quick summary of some of the things I observed and learned.

1. Secondary, Ancillary, Incidental – Oh my!

It is no surprise that discussions around the use of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) universally include the question of what to do with the “extra” data—those pieces of information we weren’t looking for, but happened to find. What was surprising are the differences in the terminology we use to describe these extra pieces of data. Jessica Everett, a GC from the University of Michigan Mi-OncoSeq project explained that confusion over this terminology lead her team to decide that they would universally refer to an incidental finding as an unintended piece of information that “falls into your lap” and a secondary finding is extra information you end up finding out, but have to look for.

There are likely some official definitions and designations that already exist here. But it is apparent that we as a GC community currently don’t have a consensus on the nomenclature around this issue.

2. GCs don’t need new skills, but rather need to apply our skills in new ways.

This type of thinking is music to my ears—I love the challenge of applying our skills in new and unique ways. The GC role in pharmacogenomic testing specifically was a sub-theme here. I heard multiple genetic counselors who work in the realm of pharmacogenomic testing say that while they initially believed their role with patients undergoing testing for pharmacogenomic purposes would be minimal, the applicability of our traditional skills and opportunity to provide value to both patients and physicians was far greater than they anticipated. 

3. “Scalability” of the Genomic counseling session

The sheer volume of information and amount of time required to consent patients for WES/WGS technologies was routinely cited as a barrier to genetic counseling in the genomic era. In some cases, GCs plan for a 2+ hour pre-test counseling session, and in most cases there are multiple visits or contacts before testing is initiated. There was also alot of discussion about how best to inform patients about the various types of information that can be learned through genome sequencing technologies. Bioethicist Scott Kim (also from the Mi-OncoSeq project) made a good case for a ‘flexible default’ model for informed consent in these situations.

Consistently GCs commented that when asked ‘do you want to know everything?’ patients and research participants will almost always reply ‘yes– of course I want to know everything!’ However, the use of specific scenarios or examples seems to be required in order to elicit a more meaningful discussion about potential results, and what information patients will decide to opt out of receiving. (This is a topic I’ve previously written about.)

4. Collaboration

Although this may be the least exciting or surprising underlying theme, it is likely the most important. Almost every lecture concluded with a slide highlighting the importance of a collaborative and multidisciplinary approach to genomic testing.

As always, I’d love to hear about others’ reactions and impressions from this year’s AEC. Please feel free to share, below.

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by | October 23, 2012 · 3:02 PM

‘We Need to Talk About our Eggs’ – Yes or No?

There is an intersting opinion piece in the NYT this week titled We Need to Talk About our Eggs. The author argues that it is the responsibility of the medical community to bring up the discussion about fertility with women, before it is too late for them. Is she right?

Cast your vote and/or share your thoughts, below.

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by | September 20, 2012 · 12:30 PM

Choosing

She sits on the precipice of my office,

eyes shut tight

against the gravity of fate

that pulls incessantly at her

to focus on the abyss of uncertainty

at her feet

Resenting the dreadful choices of choosing

to surrender her breasts (her beautiful breasts!)

or perhaps

 baby dreams going awry  

 or perhaps

to learn of an embedded suicide cell that one fine day will lead her brain to commit a slow and unspeakable act of self-destruction

How can I help her see that there is more fear

on the ledge

than in the leap?

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by | August 26, 2012 · 6:24 PM

What Did You Do This Summer (Genetics Edition)?

As the summer of 2012 starts to fade into cooler evenings, I have been wondering  – like so many summers before – just where it went and how come I did not accomplish any of the tasks I had so confidently laid out for myself back in early June. When I was a boy, on the last day of school summer would open up before me like a vast ocean of free time and then, in the blink of an eye, it was Labor Day and the seas of time had been transformed into a dripping spout of precious minutes. This got me me to thinking  about the history of genetics.  Are summer’s creative doldrums my peculiar affliction? What have other geneticists done during their summers? To satisfy my curiosity, I compiled a list of summer time achievements and events from the history of genetics, culled from my unorganized and arbitrary historical knowledge.

The most important doodle in the history of ideas in the Western world, here displayed on my iPhone cover (made by my talented daughter Emily Singh). The image is modified from the classic image in Darwin’s Notebook D, Transmutation of species (1837-1838) and is the first graphic expression of his branching species theory of evolution. Just above this doodle, Darwin wrote “I think.”

July 1, 1858: The theory of evolution was inconspicuously introduced to the world when the joint papers of Charles Darwin and Alfred Russell Wallace (On the tendency of species to form varieties; and on the perpetuation of varieties and species by natural means of selection) were read to about 30 members of the Linnean Society in

London. By all accounts, the papers generated virtually no discussion. Not even a Tweet. Neither Darwin nor Wallace were in attendance. Wallace, who may be the only Englishman unluckier than Pete Best (who was fired as the Beatles’ drummer in the summer of 1962) was off in New Guinea seeking birds of paradise. Darwin was grieving the death of his beloved tenth child, 19 month old Charles Waring Darwin, who very well may have had Down syndrome.

September 2, 1939: German U-boats torpedoed SS Athenia, the first British ship sunk during WWII. More than one thousand survivors were plucked from the icy North Atlantic waters, including Charles Cotterman, who 10 years later would become the founding editor of The American Journal of Human Genetics and the designer of the journal’s original cover (as told in The Science of Human Perfection, my friend Nathaniel Comfort‘s soon to be published book on the history of medical genetics). Ironically, on board the rescue ship City of Flint was one James V. Neel, the great geneticist and founder of the Heredity Clinic at the University of Michigan where Neel and Cotterman collaborated during the 1940s. The summer of 1939 also saw Cuba and the US deny entry to a thousand Jewish refugees aboard the the SS St. Louis, who had escaped the Nazi horrors only to be sent back to Europe. One of the passengers on board was a teenage Arno Motulsky, who would later found the medical genetics department at the University of Washington, and author a classic human genetics textbook and numerous research papers. The story of the SS St. Louis was later told in both film and book as The Voyage of the Damned.

August, 1947 – Sheldon Reed succeeded Clarence Oliver as the director of the Dight Institute of Human Genetics at the University of Minnesota. The rest is genetic counseling history.

July 15, 1949: James Neel published his classic paper The Inheritance of Sickle Cell Anemia in Science (actually, the inheritance of sickle cell anemia was first reported 26 years earlier by W. H. Tallifero and J.G. Huck).

July 6, 1957; August 3, 1957; August 30, 1958: R.A. Fisher, the great statistical geneticist and one of the leading architects of the modern theory of evolution published 3 papers (in The British Medical Journal and Nature) claiming that cigarette smoking and lung cancer were genetically linked (“… an error has been made of an old kind, in arguing from correlation to causation”). Fisher’s arguments formed a key component to the tobacco industry’s strategy to deny the health risks of cigarettes. Fisher was paid a small fee to serve as a scientific consultant for the Tobacco Manufacturers’ Standing Committee.  He wrote the papers in response to a paper authored by the British Medical Research Counsel in Lancet in June of 1957 that stated that the recent increases in lung cancer could be largely attributed to cigarette smoking. Fisher strongly denied that the money he was paid could possibly influence his views. Talk about blind spots.

August 20-27, 1958: Jérôme Lejeune first reported the underlying chromosomal basis of Down syndrome at the X [tenth] International Congress of Genetics at McGill University in Montreal. The finding was published 4 months later in January, 1959.

June 26, 2000: US President Bill Clinton and British Prime Minister Tony Blair jointly announced the completion of the first draft of the human genome.

Well, I guess I don’t have the excuse that geneticists never do anything important during their summers. Next year I will have to get more serious about pursuing my genetic exploits. But, hey, I have nine more months to ponder that.

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by | July 16, 2012 · 8:25 AM

New York Times Weighs in on GC Conflict of Interest

On Saturday the New York Times ran a piece titled Conflict Potential Seen in Genetic Counselors, about whether it is ethical for genetic counselors who are paid by corporate labs to be counseling patients about genetic testing. As any reader of The DNA Exchange will know, the topic of conflict of interest in genetic counseling has been an important one of late for Robert Resta, one of our contributors, who has written here extensively on the subject. The Times article used a quote from a commenter on one of Bob’s earlier posts on the topic (see ‘Are We There Yet’).

Conflict of interest is a contentious and emotional issue among genetic counselors (in fact we’ve received some strong criticism regarding Bob’s posts). Because of its controversial nature, I think it’s a subject we tend to shy away from. But the NYT article exposes a serious gap – there is public discussion happening about our field, that we as an industry appear to be somewhat reluctant to discuss ourselves. The DNA Exchange exists to promote open dialogue on exactly this sort of topic. With coverage by a media outlet at the level of the New York Times, it is clear that this is an issue of growing public concern that we all should be talking about, if not researching more formally.

I’m curious about GC reactions to this article. Did you find the author’s point fair? Is ‘Conflict of Interest’ in genetic counseling something that concerns you? Is it something that you have to think about in your day-to-day work? If so, what should we be doing about it? Please share your comments, or cast your votes (anonymously) below.

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by | July 1, 2012 · 5:19 PM

The NSGC Financial Conflict of Interest Policy for The Development of Practice Guidelines: Good But Not Good Enough

Practice Guidelines are the collective clinical and ethical face that a healthcare profession presents to other care providers and to the public. The National Society of Genetic Counselors (NSGC) has authored a dozen guidelines on topics such as cystic fibrosis, pedigree nomenclature, and cancer risk assessment. I have been involved with developing some of these guidelines, and have found them to be thoughtful, insightful, and clinically helpful.

Where NSGC’s Practice Guidelines fall short, however, is in the underlying conflict of interest policy. The most recent conflict of interest policy I could find, dated August of 2011, indicates that  NSGC members who wish to be part of a  practice guideline committee  must sign a conflict of interest disclosure and, if a potential conflict of interest is identified, outlines how the conflict will be managed or resolved.  The conflict of interest guidelines further state that members with conflicts of interest should comprise a minority of the committee.  NSGC’s Conflict of Interest Advisory Group is responsible for ensuring that conflict of interest guidelines are properly carried out.

These are  important checks and balances, but in my view, they do not go far enough in assuring that clinical practice guidelines are free of undue influences or of the appearance of financial conflicts of interest. In matters of clinical policy, even the appearance of a conflict of interest can be critical to the ethical integrity of the guidelines and how they are perceived.

Steps For Improvement

So how can the NSGC financial conflict of interest policy be improved?  The first step is modify the policy to be fully in line with the recommendations of the Institute of Medicine (US) Committee on Conflict of Interest in Medical Research, Education, and Practice. The IOM’s recommendations would not be that difficult to implement, and subscribing to them would assure the public that NSGC strives hard to follow high national ethical standards. And, as I have noted previously about other NSGC conflict of interest policies, the policy should be prominently displayed on the publicly available portion of the NSGC website.

Second, NSGC must restrict the role of genetic counselors who work for or have a financial stake in (such as owning individual stock in a laboratory, being paid consulting fees, or receiving speaking honoraria) private laboratories when the practice guidelines relate to a service or test provided by that laboratory.

Think about it for a moment. If NSGC were to issue guidelines that recommend, say, a panel of genetic tests for autism on all newborns, would it not look questionable if the chair of the practice guideline committee and one or two of the committee members were employed by or had stock in a lab that ran a large number of autism panels? Judges recuse themselves from legal cases where there is even a remote possibility of conflict of interest; genetic counselors should have the same good sense to do so as well.

In my view, genetic counselors with a potential conflict of interest should not chair the committee, should not have a voting role on the acceptance of the guidelines, and they should not be listed as an author of published guidelines. Of course, lab-based genetic counselors have unique expertise and insight that could be valuable in developing practice guidelines, and it is reasonable to include such counselors as expert advisors to the committee.

I have one more controversial recommendation: NSGC should make its sources of corporate income publicly available. If NSGC supports a policy that could directly benefit private corporations, the public has a right to know about the financial relationships between NSGC and those corporations.

Keeping Our Moral Compass Pointed To True North

One might counter that NSGC is a small organization and excluding lab-based counselors from certain practice guidelines committees would be impractical. But I do not buy that argument. Lab-based counselors could still have an advisory role, and there are plenty of non lab-based counselors with expertise in all areas of genetic counseling. After all, those labs serve genetic counselors who use the tests to provide clinical care and thus presumably are also experts on the topic. And in those rare instances where there might truly be an inadequate number of clinically based  counselors with adequate expertise, NSGC should consider partnering with other genetics organizations to develop the guidelines.

I can already hear hooting and hollering, and calls from my good colleagues in the Industry SIG and NSGC leadership to have me boiled with my own pudding. Please do not get me wrong.  I am not criticizing lab-based counselors or NSGC leadership, nor am I suggesting that any genetic counselor is less than ethical. Indeed, I think lab-based counselors play a critical role for their fellow genetic counselors, for other clinicians, and for patients.  NSGC leadership typically works very hard to be an ethically sound organization, and NSGC is not alone in having a conflict of interest policy that could be enhanced.  This is an opportunity for NSGC to be a leader and set a model for all professional medical organizations.

Surveying the landscape of genetic counseling practice and guideline development, I am not aware of major problems that have resulted from financial conflicts of interest (of course, that could be the result of my own blind spots). But we are in the midst of a rapid expansion of genomic medicine, and we must not appear to be ethically compromised as we branch out into new professional services. The blind spots that we all possess, as well as the public perception of our motivations, make it critical for us take great pains to stay as ethically transparent as possible. Reputations take a long time to be earned, are stunningly easy to lose, and painfully difficult to re-establish. To borrow a line from the late Ray Bradbury, I am not writing about conflict of interest to predict its future – I am writing to prevent it.

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by | May 8, 2012 · 10:46 PM

Corporate Sponsorship and Genetic Counseling: Questions and Suggestions

In two previous postings (Blind Spot and Are We There Yet?), I discussed my concerns regarding the potential for conflict of interest in genetic counseling. In this posting I address the complicated relationship between corporate sponsorship and the genetic counseling profession.

Let me be clear about a few matters up front. I believe that the National Society of Genetic Counselors (NSGC) is an excellent professional organization that strives to be ethical and to do the right thing for its members. I have no reason to believe that any corporation has placed undue pressure on NSGC or its members. I am not suggesting that private companies are inherently corrupt or evil.  I recognize the critical role of genetic counselors who are employed by laboratories and the importance of good laboratory medicine. I am not singling out NSGC as unique among professional medical organizations in seeking corporate sponsorship. My concerns are the potential implications of the financial relationship between genetic counselors and corporate sponsors.

To get an idea of the scope of the relationship between the genetic counseling profession and corporations, go to the publicly available section of the NSGC website and view the Sponsor and Exhibitor Prospectus, titled Partnership,  Sponsorship, and Exhibit Opportunities in 2012 (http://www.nsgc.org/Education/2012AEC/ExhibitorSponsorInformation/tabid/451/Default.aspx). This document outlines opportunities for corporate sponsorship, such as becoming an annual sponsor of NSGC, an issue of the NSGC newsletter Perspectives in Genetic Counseling, welcome receptions at the Annual Education Conference (AEC), AEC dinner seminars, and AEC Plenary and Educational Breakout Sessions, among other things.

Of course, corporate sponsorship benefits all NSGC members by reducing annual membership dues and conference registration fees, and helping NSGC carry out its duty to “promote the professional interests of genetic counselors.” I could not find information on the NSGC website about how much of the organization’s income is derived from corporate sponsors; I am guessing it is not a trivial amount.

I have two concerns about corporate sponsorship. One is the potential for intended or unintended suppression of scholarly research and presentations. For example, suppose Lab A provides $3,000 to sponsor an AEC Plenary Session, $10,000 to sponsor the AEC Exhibitor Suite Welcome Reception, and $20,000 to be an  annual NSGC Platinum Sponsor. What if a presentation proposed for that sponsored plenary session suggests that Lab A’s test is inferior to Lab B’s version of the same test? What if a speaker were critical of Lab A’s practices and policies? Would NSGC be reluctant to permit such a paper to be presented and risk losing $33,000 of support? I like to believe NSGC  and the sponsor would not suppress such presentations, but what assurances are in place to prevent this? Or, more subtly, might a researcher not even propose such a presentation for consideration to begin with, for fear of putting NSGC in an awkward position with the sponsor?

My second concern is the public perception of NSGC, an organization whose vision is “Integrating genetics and genomics to improve health for all.” Will the public believe that patients’ best interests are primary to NSGC if the organization is significantly beholden to corporations? Would public trust be further eroded if the NSGC president were employed by a company that was a significant sponsor?

So what are we to do about it? I am not wise enough to know the right answer, but options to consider are:

1)    Place no restrictions on corporate donations, with no clear-cut sponsorship guidelines or limits on the types of companies the NSGC will accept as sponsors. I think this would be a worrisome road to travel.

2)    Eliminate all corporate funding sources. I think this is unlikely to happen.

3)    Limit the amount of NSGC’s annual corporate sponsorship income such that the loss of corporate income would not threaten NSGC’s survival, and cap the amount of money that any one corporation can provide to NSGC.

4)    Limit AEC sponsorships to the Exhibitor Hall and a few other areas that do not have a direct connection to symposia, plenary sessions, and other venues for scholarly discussion.

5)    NSGC should articulate a clear and detailed policy about its relationship with corporate sponsors, something along the lines of the Council of Medical Specialty Societies Code for Interactions with Companies.  This policy should be prominently displayed on NSGC’s website and in the sponsor and exhibitor prospectus. NSGC may already have such a policy but I could not find it on the  website. The NSGC Code of Ethics addresses these issues in only the broadest terms.

6)    NSGC’s annual budget, including details of the funds derived from corporate sponsorship, should be available on the Member’s Only section of the website (it may be there now but I could not find it).

7)    Establish a standing review board, with no direct connection to NSGC or genetic counselors, to scrutinize NSGC funding sources and assure that the economic relationship between NSGC and private corporations follows widely accepted ethical principles.

8)    Take the time-honored organizational response of forming a task force to investigate the matter  and produce a formal report on the merits of the issues that I raised. The task force should include outside consultants who have no direct connection to NSGC.

9)    Ignore my concerns as the ranting of a scold who is unhappy unless he is criticizing something and hand out Bob Resta dartboards at the next AEC.

Perhaps some of these suggestions are already in place; it would be helpful to hear about them. And I would like to hear from all sides of the discussion – critics, supporters, and the confused.

Some additional thoughtful reading:

Steinman MA, Landefeld CS, Baron RB. Industry support for CME – Are we at the tipping point? NEJM 2012 366;12:1069-1071

Brody H. Clarifying conflict of interest. Amer J Bioethics 2011;11:23-8.

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