Tag Archives: conflict of interest genetic counseling

Appearances Are Important

About two months ago a story about conflict of interest in the Boston Globe caused a bit of a kerfuffle in the genetic counseling community. The article reported on the experiences of some pregnant women who felt that financial conflict of interest on the part of a few genetic counselors had resulted in the patients being given misinformation about the results of their non-invasive prenatal testing (NIPT). The counselors mentioned in the study had either received speaking fees from the lab where the testing had been performed or was an employee of a lab.

In my reading, the source of the patients’ understandable frustrations stemmed not so much from conflicts of interest on the part of the genetic counselors as it did from misunderstandings on the part of the patients and their physicians about the distinction between the false positive rate and the positive predictive value of NIPT. These two very different statistical measures can easily be confused with one another and this confusion has haunted maternal serum screening since AFP screening for spina bifida was introduced in the early 1980s (we sometimes used to darkly joke that the A in AFP stood for Anxiety and the F stood for an impolite word that would be familiar to Boston Red Sox fans when they describe their nemesis Bucky Dent). Providers and patients often incorrectly interpret a false positive rate of, say, 0.2% to mean that a positive test indicates a 99.8% probability the baby will be affected with the disorder in question. Who would not be anxious if they were convinced that there was over a 99% chance that their baby has a potentially serious health condition?

I am sure that the genetic counselors in the story understood the distinction between positive predictive value and false positive rates, and tried very hard to convey this to the patients. These counselors are well-respected and highly ethical colleagues. Really, they could have been any of us. We all have been in these counselors’ shoes and we were all feeling their pain – as well as the patients’ pain – when we read the story. Did some blind spot on the part of the genetic counselors not allow them to see how their counseling may have been influenced by an unacknowledged conflict of interest? Perhaps, and that is a point worth considering seriously. But as every genetic counselor knows, the anxiety and emotional fragility of couples faced with threatening information, particularly during pregnancy, usually dominate genetic counseling sessions and can result in patients coming away with a less than perfect comprehension of statistical fine points. We humans are emotional creatures, not Vulcans.

I think that the evidence for overt financial conflict of interest on the part of these genetic counselors was not strong. The counselors were certainly not exploiting these patients “for personal advantage, profit, or interest,” in the words of the Code of Ethics of the National Society of Genetic Counselors (NSGC). My guess is that the concern about conflict of interest arose from at least one of the patients not finding out about the counselor’s relationship with the lab until afterwards (from the article it is not clear if at the time of genetic counseling the patient was aware of the counselor’s financial ties to the lab but it seems that she learned about it only later).

And therein lies a critical point about conflict of interest – the appearance of financial conflict of interest can be just as corrosive as actual conflict of interest. Grumble though we may about the article, by bringing this to our attention, the reporter, Beth Daley, performed an important service for genetic counselors and our patients and we should be thankful for it. Public trust in our professional skills and judgement can be seriously compromised if patients perceive us to have a financial conflict of interest. Unless we openly and honestly confront conflict of interest in all its many forms, rather than deny its existence or ignore its potential, problems and misconceptions stemming from the appearance of conflict of interest will only worsen. And, possibly, a more blatant financial conflict of interest scandal may one day rear its ugly head (it would be astonishingly naive to believe that “It can’t happen here.”).

So how can the NSGC and individual genetic counselors help reduce the appearance of conflict of interest? We should be in the vanguard of addressing financial conflict of interest and demonstrate that we take it seriously. To this end, I have one concrete suggestion – the on-line NSGC directory of genetic counselors should include voluntarily provided information about the financial relationships of genetic counselors with any company other than their employers. And the directory should also clearly state who the employer is in situations where genetic counselors are employed by labs but working in hospitals and providers’ offices. While we are at it, maybe the American Board of Genetic Counseling should also consider doing this with its directory of certified genetic counselors. The Affordable Care Act requires this of physicians but for now the law does not apply to genetic counselors.

I am guessing that this suggestion might not immediately sit well with some of us. But once you get past your initial reaction and think about it a bit more clearly, it is a simple and powerful idea. It is also consistent with Section 1 of the NSGC Code of Ethics, which states that genetic counselors should:

Acknowledge and disclose circumstances that may result in a real or perceived conflict of interest.
Avoid relationships and activities that interfere with professional judgment or objectivity.

Actions are more powerful than words. Voluntarily including this information in the NSGC directory demonstrates that genetic counselors recognize that conflict of interest is a real problem and that we are not sitting around waiting to do something only if some federal law eventually requires us to do so. It allows patients to learn beforehand about a genetic counselor’s financial ties and gives patients the opportunity to discuss it openly with counselors. Or, if patients are so inclined, they can seek an alternative counselor or a second opinion.

Transparency is always the best policy – for us and for our patients.

3 Comments

Filed under Robert Resta

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.

4 Comments

Filed under Robert Resta

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.


10 Comments

Filed under Robert Resta