Tag Archives: genetic counselors

by | May 22, 2016 · 11:22 PM

Who Decides?

The past decade has seen an evolution in the way that new genetic tests become incorporated into clinical practice. Historically, genetic tests such as amniocentesis, CVS, AFP screening, newborn screening, and ethnic-based carrier screening were introduced after undergoing government-funded studies conducted by academic and clinical institutions. This research was typically supplemented by exploration of the ethical and socio-economic issues generated by new technologies and engaging the principal players in the at-risk community in open discussion. This may have resulted in a slower clinical integration of novel technologies but the net result was better patient care because the technology’s strengths, limits, and ethical and socio-economic implications were more clearly defined before the testing was offered routinely. Not to say that this approach was perfect. Recall the problems that arose when sickle cell carrier screening was introduced only to become entangled in the thorn-bush of racial politics and racial history.

Commercial interests played less of a role in such decisions in part because the tests generated lower profits due to their labor-intensiveness (think about the time spent in counting chromosomes and hand cutting and pasting karyotypes or running Southern blots), had limited target populations due to the rarity of most genetic disorders, and could be costly. There just weren’t that many large-scale genetic testing labs out there.

Now, however, genetic testing is cheaper, more profitable, less labor-intensive, and has a wider proposed target population – every pregnant woman, many people with cancer or who are at hereditary risk (maybe only 10% of breast cancer patients are appropriate candidates for hereditary testing but most of those patients have a lot of relatives), every woman, and, as with the aim of some direct to consumer (DTC) tests, everyone. Genetic labs pop up left and right, merge, expand, are bought out, and otherwise engage in business. Twenty years ago, trying to find a lab to run a genetic test could involve hours of detective work and secret word of mouth sources. Now labs are knocking on our doors cajoling and pleading for our patients’ samples. While most labs are deeply concerned about patients and are well-intentioned, they are also equally concerned about profits. Money-making, after all, is why businesses exist so it is no surprise that labs have started to take a more active role in introducing new genetic tests. This is not a phenomenon peculiar to genetics. It has been going on in medical care for decades, and genetics is just starting to catch up. It is also reflective of the growing trend in the health care industry to refer to patients as consumers of medical care and to implement customer service based patient care models.

Several genetic tests come to mind here – expanded carrier screening, offering noninvasive prenatal testing (NIPT*) to low risk pregnant women, multigene cancer panels, and SNP-based DTC testing. These tests worked their way into patient care after aggressive sales tactics and questionable advertising claims helped amplify the demand. This was further driven by competition between clinics to offer the latest and greatest tests to their patients, the general eagerness of genetic counselors to seek genetic answers for their patients, and patient word-of-mouth networks. About the only counter-balance has been a reluctance on the part of health insurers to cover new and unproven testing. Most of my patients want that new genetic test but only if their insurance company covers it, although low-cost labs like Color Genomics are challenging this limitation.

To some degree, patients can benefit from these tests but not necessarily to the extent that one might think. 23andMe states that their product should not be used for clinical decision-making – at least for now – while at the same time offering “wellness reports” and “genetic snapshots of your health.” This sounds to me like clever ad copy to deflect regulatory concerns about health claims while at the same time suggesting that the product is an important aspect of everyone’s medical care. Supporters of expanded carrier screening acknowledge its limitations in terms of  studies on net health benefits and cost effectiveness but still offer the test routinely and subtly suggest that the test is standard when they claim that they work directly with a network of over 6,000 health care professionals. NIPT may soon become an appropriate test for all pregnant women, but this conclusion should be driven by independent studies conducted outside of the commercial sector. Multigene cancer panels have shown some benefits, but not nearly as much as many clinicians had hoped for.

I am grateful for the valuable contributions that labs have made to patient care. Quicker turn around times, incredible help with verifying insurance coverage, and highly knowledgeable genetic counseling staff who happily share time and considerable expertise in interpreting complicated results. 23andMe provides far better patient education materials than any single genetic counselor or clinical institution or professional organization could ever hope to create. And 23andMe was several steps ahead of everyone in facilitating patient connections to researchers and each other as well as when the company made raw data available to consumers. I never anticipated that patients would have wanted such level of detail. Along those lines, note the recent complaint filed wit the Office of Civil Rights against Myriad in which several patients assert that their HIPAA rights were violated because they claimed that Myriad would not share all of the genetic variants that were detected, including those that are considered benign or clinically insignificant. Clearly I am still time-stuck in the era when couples were ecstatic to receive a karyotype of their unborn baby and I can’t remember a single patient requesting records of all their amniotic fluid metaphase spreads and cell counts.

Of course, introducing new tests before they are ready for prime time is just part and parcel of living in a market driven society. The context is much larger than the genetics niche or even medical care in general. Labs and competitive clinics should not be faulted for engaging in behavior that is widely condoned elsewhere. Nor should all blame be placed squarely on the shoulders of labs. Everyone needs to be engaged in this process. It is not just the buck dancer’s choice, my friend. Labs can put the brakes on new tests a bit. Clinicians and labs need to form better relationships while tests are in development. Labs need to step back while independently funded research verifies claims of accuracy. Governments need to step up funding for such research. Clinics need to fend off marketing pressures to prematurely offer the newest tests to patients. Communities need to be involved in the process. We all need to work harder to dispel the myth that genetics is destiny and that DNA is the blueprint for our humanity. Labs need to be fully transparent with their data even if it means sacrificing some basic business principles of corporate secrecy.

The explosive growth of lab positions for  patient-focused genetic counselors – roughly 20% of genetic counselors are employed by labs, according to the 2016 Professional Status Survey of the National Society of Genetic Counselors – can help implement a wiser policy on test development and introduction into medical care. Of course, as I have mentioned previously (ad nauseam, according to some) genetic counselors will need better training to navigate the murky, complex waters of conflict of interest.

Labs, clinicians, and patients need to recognize that market forces don’t have to be the only engine that drives policies on test development and introduction into clinical practice. We are talking peoples’ lives here, not trying to outmaneuver Pepsico’s Cheetos in the market niche for snacks that you can’t seem to stop eating, even when your hands and mouth turn that peculiarly unnatural orange color (did you know that there are 21 different types of Cheetos on the market? Cheetos Sweetos, however, has been discontinued.). Innovation can be wonderful, exciting, and improve medical care. Let’s just do it wisely.

                                                                                                                                                                                                                                                                   

  • – actually it would be more accurate to say that the P in NIPT stands for placenta. It is not really cell free fetal DNA; it’s cell free placental DNA.

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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 | February 7, 2011 · 11:08 PM

A Lover’s Lament: What If We Stopped Seeing Each Other?

Your head says forget it
But your heart’s still smokin’

-Joni Mitchell, “You Turn Me On, I’m A Radio”

I love my profession. My heart belongs to my wife, but that’s a different sort of love.* I love my job because it affords me the privilege of being admitted into the deep recesses of patients’ emotional landscapes as they make complicated decisions and experience life-altering events. And I love genetic counseling because it let’s me believe that my skills and education are making a dent in this hard, hard world. I hope that I am helping reduce the emotional and physical suffering from genetic disease and that I make patients’ lives better in small or big ways.

Or perhaps I am  unrealistically romantic. It could be that for many patients genetic counseling doesn’t amount to a hill of beans. Maybe I get more out of this relationship than they do.

Intimate relationships are, by their nature, plagued by doubt. But unexplored doubt only festers. So let me ask  a very difficult question: Would it make a heck of a lot of difference to the world if the profession of genetic counseling abruptly vanished? Who would notice?

We like to think that we are critical to Mission Healthcare. And no doubt we can all supply a fistful of anecdotes to support our case. This patient was given inaccurate information by her physician and almost had an unnecessary mastectomy before she saw me. Or  how about that physician who told the patient she had Huntington disease when in fact she had a normal number of repeats? That poor woman was beside herself. A patient last week said I was the only one who could help her come to grips with her child’s diagnosis, and she finally felt like she and her husband could get on with the business of being a family again. And then there was that evil dragon of an insurance company I slew the other day.

To be sure, these anecdotes are important to me; they keep my heart smokin’. But my head asks “How do we know that somebody else couldn’t do our job as well, if not better, or that our jobs are even necessary?” Where are the studies that compare genetic counselors to other healthcare providers, or  to smart phone apps for that matter? There are a few studies, but they are limited by small sample sizes or questionable outcome measures like information recall and anxiety. Which genetic counseling patient isn’t rightly anxious and wouldn’t it be more useful to help them cope with their anxiety rather than trying to make it poof-disappear?

So if genetic counselors weren’t here, maybe some people would never quite grasp  the subtleties of x-linked inheritance, the mechanics of adjacent 1 segregation, or the bayesian likelihood that they will have a child with spinal muscular atrophy. Who knows if patients even care about these matters? We all know that knowledge has very little to do with decision-making or adaptation and patients will still be just as anxious.  And if prenatal diagnosis ceased to exist, the net result would be an increase in the number of births of children with Down syndrome . One might argue this is not exactly a public health emergency or a critical failure of the healthcare system.

How can I doubt something I have been doing for three decades? Well, the doubt is mostly in my head, not in my heart. So I challenge you all to restore my faith in this relationship. Prove our value to patients and the healthcare system. Go out and do the studies. Measure all kinds of outcomes – psychosocial adaptation, public health measures like reducing the incidence of serious cancers, quality of decision making (how come nobody tries to measure whether patients make good decisions or bad decisions?), empowerment, perceive personal control, whatever. Do them all.  Let’s finally listen seriously to Shoshana Shiloh, Marion McAllister, Barb Biesecker and the other researchers who have been prodding us for years to examine genetic counseling outcomes. But then be prepared to take a long, hard look at ourselves, what we do, if we should even be doing it, question our assumptions and ethos, and think about how we should change the very nature of genetic counseling. Let’s be sure the relationship is as rewarding for our patients as it is for us. Make the fire in my heart spark some passion in my head.

* – My love for my wife is better evoked by this verse from a Tom Waits song:

In this land there’s a town/In that town there’s a house/ In that house there’s a woman/And in that woman there’s a heart that I love.

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