Category Archives: Robert Resta

by | April 10, 2013 · 7:50 AM

Customer Disservice?

“Words used carelessly, as if they did not matter in any serious way, often allowed otherwise well-guarded truths to seep through.”
― Douglas Adams, The Long Dark Tea-Time of the Soul

Vocabulary is never just a bunch of words. Consciously or unconsciously, word choices reflect underlying ethical, moral, and philosophical values. Which brings me to why I have a problem with the growing trend to embrace the Customer Service Model of Patient Care.

Genetic counselors wake up every morning and go to work because we are driven by a desire to help people. We strive to use our skills to alleviate the psychological and physical turmoil dealt by the cruel and impersonal hand of Genetic Fate. We encourage patients to pour out their sadness, anger, fear, and insecurity in the safe havens of our offices where we offer comfort, unquestioning support, and some hope in their darkest hours. We want their lives to be better for having met with us. I witness this same deeply ingrained desire to help patients in many of my health care colleagues  – physicians, nurses, imaging technicians, office staff.

Suffering

So what’s not to like about the Customer Service Model of Patient Care? It encourages health care providers to be supportive and respectful, and to put patients at the center of clinical encounters. Customer service skills in the clinic are important to our relationships with referring physicians, and for genetic counselors who work in lab positions where they interact primarily with health care providers.

My uneasiness with the Customer Service Model stems from the implications of referring to patients as customers. Think about it. Labeling people as customers subtly focuses the health care interaction on profit. Patients are stripped of their emotional and physical vulnerabilities and reduced to revenue sources. It is downright disrespectful. Why should I feel compassion for patients if I am trying to convince them to fork over their hard-earned money?

Cash Patients

The message communicated by the vocabulary is not “Let us try to alleviate your suffering and to care for you as human beings.” Rather the message is “I am being nice to you so you will keep coming back to my store.” And, inevitably,  models of customer service developed by highly successful corporations like Amazon, Nordstrom’s, and Starbucks are held up as paradigms for healthcare providers to emulate. Scripted patient interactions and Greeters at hospital entrances cannot be far behind. But corporately-mandated niceness can be as transparent to patients as a pair of Lululemon yoga pants.

Typically, the Customer Service Model is presented as a clever acronym, such as  MAGIC, ACES, FISH!, or HEAT. Does anyone sincerely believe that the complex interaction between health care provider and patient can be  simplified to a conveniently bulleted PowerPoint slide?

I am not a financial naif. I am acutely aware of the dire economic status of the American health care system, the razor-thin profit margins of hospitals, and the critical importance of a fiscally sound organization. But there is no reason to believe that the Customer Service Model generates any more income or additional business than empathic providers and highly competent medical care. Indeed, keeping the focus on the patient – rather than the customer – has the potential to increase hospital revenue because it implies that health care providers are emotionally invested in the care of their patients.

The possibility that patients might think that the medical encounter is financially driven is re-enforced when they walk into physicians’ offices where nutritional supplements, skin care products, eyeglasses, and other medical “accessories” are offered for sale. If patients are led to believe that we view them as customers, then it could reduce their trust in us and the care we provide. Why should patients trust our medical advice if they think we are trying to profit from their suffering? This makes it all the more critical to stay sensitive to the appearance of conflicts of interest and to our blind spots.

We cannot honestly say to ourselves “Well, I know I am calling them customers, but I don’t really think of them as customers.” As George Orwell pointed out, language can corrupt thought as readily as thought can corrupt language. We must choose our words carefully.

Word Choice

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by | February 20, 2013 · 11:52 AM

Screening Everyone For Everything: A Changing Model of Screening For Carrier Status of Genetic Diseases?

The heterozygote carrier screening paradigm  is  starting to shift from ancestry based screening  for carriers of a single or a few genetic diseases to pan-ethnic screening for carriers of a wide range of genetic diseases. New techniques of DNA sequencing make it possible to test a single sample to determine carrier status for dozens of genetic conditions at prices that make carrier screening panels (CSPs) very tempting to healthcare providers and patients. Since carrier screening for one or another genetic disease – cystic fibrosis, Tay-Sachs, hemoglobinopathies – is already offered to essentially all women who are pregnant or planning a pregnancy, why not “screen everyone for everything” at no greater up front cost? And it doesn’t even require a blood sample; a less intimidating buccal sample works just fine.

Part of the understandable justification to move beyond targeted carrier screening programs is the futility of trying to classify people into distinct ancestry/racial/ethnic categories. Gene mutations and genetic diseases have a pesky habit of flowing fluidly between populations, and cultural heritages can be lost through assimilation (See Interesting Digression* below).

People

So why object to CSPs? After all, don’t people have a right to “know their DNA” and to understand what health and reproductive risks they face?

I am not suggesting that we should stand in the way of anyone’s wishes to “know their DNA.” If someone chooses to acquire that knowledge without the benefit of meeting with a genetic counselor, well, I may disagree with that decision but I respect it. But whether people decide to undergo carrier testing through a genetic counselor or through an online testing company, they need information that is forthright, complete, and transparent; they do not need subtly biased sales pitches. Private companies do not have a vested interest in talking people out of genetic testing.

Before we examine how some labs “objectively” describe carrier screening to patients, we must acknowledge an ethically uncomfortable truth. Carrier screening does not consistently lead to better treatments,  encourage greater tolerance of disabilities,  stimulate research into cures, or improve psychosocial adaptation to genetic disease. The only compelling reason to devote economic and medical resources to carrier screening is to reduce disease incidence. For better or worse, that is the measure of success of Tay-Sachs screening in Ashkenazi Jews and thalassemia screening on Cyprus.

Three strategies can reduce the incidence of genetic disease. One is mate selection based on carrier status, which is rare except in select populations such as Ultra-orthodox Jews (Hey Single Women out there, when was the last time you met potential Mr. Right and said “Er, you can buy me a drink but do you mind if I take a pedigree and a cheek swab from you before I give you my phone number?”). A second approach is preimplantation genetic diagnosis, but it is available to only a miniscule percentage of the population. The third and only realistic option for most patients is the elephant in the room – prenatal diagnosis with termination of affected fetuses.

Bar

Take a look at the  web sites of companies such as Counsyl or 23andMe and you get a different narrative. The word “abortion” does not appear. Instead, you read about sperm/ovum donation, preimplantation diagnosis, mental preparation, watchful waiting, and early treatment. No mention is made that early treatment requires testing the baby anyway and that some treatment is available for only a handful of the screened conditions. The websites do not bring up the point that there are no large-scale studies that have shown better familial adaptation to genetic disease when parents have prenatal awareness of their carrier status, so couples really cannot know if testing really will result in mental preparedness. And I am still not sure what watchful waiting is, and how it differs from mental preparedness.

waiting

A second concern is that screening for very rare conditions plays on the emotionally vulnerable state of many pregnant women and the difficulty almost anyone has in understanding very, very small numbers in a psychologically meaningful way. Take for example, a condition that has an incidence of 1/100,000 births with a 75% carrier detection rate. Before carrier testing, a couple would have an ~99.9999% of NOT having an affected child; after carrier testing that probability would increase to ~99.99999%. Really, who can tell the difference between those two statistics? It’s difficult just trying to count the number of nines in those numbers. But read about the condition’s severe intellectual disabilities and physical birth defects, and, damn the statistics, give me that test.

A third concern is the lack of complete information about test sensitivity on the information portion of the website. For example, a patient with normal carrier test results might understandably think they would not have to be concerned about having a child with Bardet Biedl syndrome. What the site does not indicate however is that BBS1 and BBS10, the two loci included in the  panel, account for less than half of patients with Bardet Biedl syndrome, and that the dozen or so other genes that can cause Bardet Biedl syndrome are not included in the test panel.

A fourth, and maybe the greatest, concern is the ethical difficulty of deciding which conditions to include on a CSP. Tay-Sachs screening among Ashkenazi Jews and thalassemia screening in Cyprus developed with significant input from families, medical professionals, and community and religious leaders. There was widespread agreement in those communities that these were serious diseases and that carrier screening, mate selection, or prenatal diagnosis were ethically acceptable ways of reducing disease incidence. Very little community dialogue has taken place over CSPs. Do we really believe that the world is a better place if we screen for carriers of a common form of hereditary deafness or, God help us, red hair color?

Redhead

And ruminate on this: a study of 3 million cystic fibrosis carrier tests performed at a single US lab found that 25,000 CF carrier screens needed to be performed to detect one affected fetus. And this is for a relatively common genetic condition with a frequency of about 1/4000 US newborns and  a screening program whose success remains debatable. How many carrier screens will need to be performed to detect a fetus or newborn with a rare disorder like isovaleric academia, with a frequency of 1/250,000 births?

It could be that I am just the last of the old wave of genetic counselors who are out of touch with new technologies and changing ethical values, the proverbial last leaf on the tree. Maybe I am a 20th century genetic counselor in a  21st century world in which private industry will become the primary mode for the delivery of medical genetic services. Perhaps when I retire in a decade or so the genetic counseling community will issue a collective sigh of relief. But sometimes Old School cranks have a point.

MR900400816

* – Interesting Digression: I recently learned about the Jews of Acadiana, Jewish merchants who settled among, and who were often culturally and reproductively assimilated into, Louisiana’s Cajuns (although the Cajun Tay-Sachs mutations stem from their French Canadian origins and predates the Ashkenazi admixture). Also, an exploration of why Tay-Sachs screening caught on among Ashkenazi Jews but not among Cajuns would make for  an interesting socio-medical-historical study. If a  large scale  Tay-Sachs screening program were to be introduced among Cajuns, perhaps its motto would be Laissez les bon genes roulez.

Accordion

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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 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 | 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 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 | June 10, 2012 · 2:59 PM

The Age-Old Question

Tree Of Lives. Photo courtesy of genetic counselor Liane Abrams. For permissions and information, contact Lia Photography (925) 768-0006

“How old was your maternal grandmother when she died?” It seems a simple question, one we ask our patients every time we construct a pedigree. Many people know the answer to within a few years, an accuracy that is  perfectly fine for genetic counseling purposes. However, for a significant minority this seems to be a particularly challenging query, and they look at me as if I had asked them to use differential calculus to predict the orbital position of Ganymede on April 12, 2019.

Over the last few months I have informally collected responses to the Grandma’s Age Question. Here are some of the responses:

Grandmother and Grandchild. Photo courtesy of genetic counselor Liane Abrams. For permissions and information, contact Lia Photography (925) 768-0006.

1)    She died in 2006. Do the math.

2)    Do you mean Maw-Maw or Baba?

3)    Oh, that was the year we moved to North Carolina.

4)    Well, she died when my mother was 35. How old would that have made her?

5)    She died a long time after my grandfather died.

6)    She was born in 1898, and she died on her wedding anniversary.

7)    Do you mean my biological grandmother or my grandfather’s second wife who raised my mother?

8)    I never really liked her very much.

9)    She died of a heart attack. What is the average age of people dying from a heart attack?

10)  She died of the diabetes when she was 83. No wait, that was my Aunt Hannah, who married into the family but she was like a grandmother to me. Grandma J died of the pleurisy at 90. Or was that Nona? Nona was my Italian grandmother. She was a good cook but she didn’t like my father very much. Oh, I don’t know. One of my grandmothers died at 62 and the other one died when she was 90-something. I think. One of them had Congenital Heart Failure I know.

11)  She was old.

12)  She was young.

13)  Her sister lived to be 104 but Grandma didn’t live as long as her sister.

14)  She died a few years ago when she was 88. I mean, no, wait, she’s still alive.

15)  I know I put 73 on that form you sent me in the mail but I just made up an age because I felt like I had to put down some number. I really don’t know how old she was.

16) She was pretty old, oh, maybe….(thinks for a few moments)… 63. Huh, that’s my age now. But she looked so old to me!

17) She was so vain that she always lied about her age. She even destroyed her birth certificate so no one would ever know her true age.

18) Patient: She was 85. Husband, head turning towards patient: No, she was 86. Patient, head turning towards spouse: No, she died a month after we got married. She came to our wedding and told everybody she was 85. Husband, eyes rolling: No, she announced she was 86 at the wedding. You were too drunk to remember. Patient, head straight, eyes closed: Don’t roll your eyes at me. She was my grandmother, not your’s. And I know for a fact she was 85. Husband, looking out the window and exhaling: 86. Patient, looking directly at me: 85. He’s wrong. Husband, looking directly at me: Her grandmother was 86. She’s wrong. Silence.

So what counseling sense can I make of these responses? Well, like everything else about genetic counseling, there is no simple underlying pattern. Sometimes, the response is an opening to discuss complicated family dynamics or it provides a context that helps me better understand patients’ psychological dimensions. In other situations, divorces and strained family relations account for lack of familiarity with a relative. For some, the inability to recall the information stems from having recently been diagnosed with cancer or having a child identified with a serious syndrome,

Generations. Photo courtesy of genetic counselor Liane Abrams.
For permissions and information, contact Lia Photography (925) 768-0006

and their minds are focused on bigger issues than recalling obscure family facts.

Then there are organic explanations, like Chemo Brain and Pregnancy Raging Hormone Brain. And this can be a particularly challenging question for older patients, who have failing memory skills and whose grandparents may have died a half century ago.

Perhaps too grandma’s age is a bit of information that is less important to some people, knowledge lost with the disappearance of The Family Bible and the geographic dispersal of families in modern times.

I am interested to hear other counselors’ experiences and thoughts about the Grandma’s Age Question.

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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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by | April 23, 2012 · 10:33 PM

Are We There Yet?

Everybody Needs Genetic Testing!

The Annual Education Conference

of the

National Society of Genome Service Specialists (NSGSS)

Proud Sponsors:  UneedaTest, Inc.; TestAll!, Inc; Twist-of-Fate, Inc; RLKVirchow Pathogenomics, Inc.; BraveNew Analytics, Inc.; AfterLife Genetics, Inc.

Faculty: Speakers will be chosen by our Corporate Sponsors from their secret list of paid consultants, and from their fashionably dressed, attractive, professional sales staff.

Conference Speaker$/Sale$$taff/Clinician$

Reminder: Continuing Education Credits require attendance at each session and ordering a minimum number of genetic tests from each Corporate Sponsor.

Wednesday, October 24

10:00AM – 11:00AM Opening Address by the UneedaTest-Sponsored NSGSS President:  UneedaTest – The Genetics Laboratory For All Of Your DNA Testing Needs. An objective, scientific discussion of why UneedaTest is the right choice for your patients’ genetic testing needs. Free iPads to the first 100 attendees who promise to send us 50 specimens next month!!

11:00AM – Noon Plenary Session: Corporate Driven Eugenics: Is It Really That Bad?

Noon – 2:00PM  Luncheon, sponsored by RLKVirchow Pathogenomics, where our motto is “Omnis venditiones e venditiones/All sales arise from other sales.” Free lunch requires proof of having ordered genetic tests from RLKVirchow Pathogenomics.

2:00PM – 3:00PM Plenary Session: Clinical Trials – A Barrier To Patient Uptake Of New Genetic Tests.

3:00PM- 4:00PM Plenary Panel Discussion: Fear of Genetic Disease – Your Best Marketing Tool.

4:00PM – 4:30 PM  Soma and Dark Chocolate Break, sponsored by BraveNew Analytics. Free give-away of stylized Malthusian Belts with BraveNew Analytics logo!

4:3oPM – 5:30PM Corpses Have DNA Too: The Dead – The Next Market For Genetic Testing. Sponsored by AfterLife Genetics – the home of true ancestry testing.

6:00PM –  Until You Drink The Bar Dry  Uneeda Party, Sponsored by Uneeda Test. An evening of food, drink, fun, and clever sales pitches  by Uneeda Test Sales Associates. Important Disclaimer: This event is not intended to influence your choice of genetic testing laboratory.

Thursday, October 25

3:00AM – 4:00AM Community Outreach – Special Educational Event for local elementary, middle school and high school students

4:00AM – 4:05AM NSGSS Business Meeting

4:05AM – 4:10AM Open Mike

4:10AM – 4:20AM Ethical Dilemmas in Genetic Counseling

4:20AM – 4:25AM Advanced Counseling Skills for Patients In Crisis

4:25AM – 4:30AM Presented Papers.

4:30 AM – 8:00AM Free Time to explore the Exhibitor Booths

8:00 AM – 10:00AM TestAll! Sponsored NSGSS Leadership Award Ceremonies & Breakfast

–       Huntington Award For Most TestAll! Tests Ordered For Adult Onset Conditions in a Pediatric Setting

–       Gattaca Award For Strongest Advocate of the TestAll! Really, Really Expanded Newborn Screening Panel

–       Podsnap Trophy, awarded to the Genome Service Specialist who ordered the greatest number of TestAll! prenatal tests on a fetus

10:00 AM – Noon TestAll! Sponsored Break-Out Sessions (Choose One)

–       Counseling Skills: How To Appear To Promote Autonomy, Empower Patients, And Seem Non-Directive – But Still Increase Hospital Revenue.

–       Legal And Social Issues: How Everyone Benefits From Exclusive Use Gene Patents. Really. No Kidding.

–       Professional Issues: The Relationship Between Laboratories and Genomic Service Specialists:  Clinical Partnerships, Not Conflicts of Interest

Noon – 1:30 PM Twist-of-Fate Sponsored Luncheon. Special Student Session: Basic Counseling Skills: How To Convince Reluctant Patients to Undergo Genetic Testing.

1:30PM – 3:00 PM  Nap Time. Free TestAll! pillows and blankets for you to keep and proudly display in your offices. TestAll! – the lab that lets you sleep easy, knowing that your patients are getting the greatest possible number of genetic tests. Limited to attendees who have ordered genetic testing through TestAll!, so order testing now to secure your pillow and blanket.

3:00PM – 4:30 PM Twist-of-Fate Sponsored Lecture Series

–     The Disability Community – Who Cares If They Don’t Like Us?

–      The Nuremberg Code: No Longer Relevant To Your Practice.

–      Newborn Screening: Not Just For Treatable Conditions Anymore.

–      Ethics, Shmethics: Ignore The Critics.

4:30PM  – 5:00PM Twist-of-Fate Sponsored  “Twist-of-Lemon Martini Break”

5:00PM – 5:30PM Professional Education Panel Discussion: The Clinical  Doctorate in Sales: The Newest Advanced Degree in Genetic Counseling.

5:30PM – 6:00PM Closing Conference Lecture: Understanding How Your Relationship With Corporate Sponsors Does Not Influence Your Choice of Genetic Tests or Laboratories.


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