Taking Exception to Genetic Exceptionalism

A recent situation in Ontario has prompted the discussion about whether or not it is appropriate for geneticists to act as gatekeepers of genetic testing. Essentially a policy change was made on the provincial level that would only allow for out-of-province funding for genetic tests when the test is ordered by a certified Canadian College of Medical Genetics (CCMG) geneticist. This change removed the ability of oncologists, cardiologists, neurologists and non-CCMG certified geneticists from ordering genetic tests as part of a diagnostic work-up for his or her patient. And, as a trickle-down effect, it hurt genetic counsellors working in specialty clinics with non-geneticists. For my US colleagues, I would loosely compare this situation to an insurance company only approving to cover the cost of genetic testing if that test was ordered by a geneticist certified by a specific certifying body. (As a side note: has anyone heard of this happening?)

For me, any discussion about the genetics community acting as ‘gatekeepers’ to genetic information naturally leads to a conversation about genetic exceptionalism. Defined as ‘the belief that genetic information is special and should be treated differently from other medical information,’ genetic exceptionalism is a natural topic for genetic counsellors, as we are specifically trained to communicate the unique nature of genetic testing to patients. In our training we learn over and over again about the potential harm (psychological, insurance) that can come from genetic testing for someone who was not properly informed about the test ahead of time. I graduated from my training program in 2008 believing that everyone undergoing a genetic test should have a genetics consultation first. And then I started at my first job.

Working in the adult genetics world I’ve increasingly felt that the field of genetics is actually very similar to other specialties, especially with respect to the diagnostic work-up. For example, if a drug-infusion study used by a cardiologist to assess for Brugada syndrome comes back negative, it reduces the likelihood of Brugada syndrome in that patient but doesn’t rule it out completely. How is this different from a negative genetic test result in which the mutation detection rate is only 75%? In genetics we commonly worry about how other specialists might interpret the ambiguity of a variant of unknown clinical significance. But I’d argue that this is no different than a brain MRI with non-specific equivocal changes. Most specialties (if not all) work with ambiguous results and data every day. So why is an ambiguous genetic test result so different?

I believe that we are firmly in an era where we need to promote collaboration and excluding other physicians from ordering genetic tests is likely to alienate specialties, rather than bring them together. Everyone agrees that increased genetics education in medical students and continuing education for practicing physicians is an important priority. But what better way to educate than through collaboration on a case? And yes, there is an important place for the traditional genetics and genetic counselling model, but applying the same model to every genetic test is short-sighted. While a handful of genetic tests represent ‘exceptional’ information and should be treated differently, the majority do not.

So, are genetic tests different enough from other medical tests that geneticists (or the genetics community) should act as gatekeepers of the information? In my opinion, the answer is a resounding no.

As for the Ontario policy, immediately following the release of the news, the genetics and non-genetics community was up-in-arms. Having no inside knowledge on the situation, it seems from the outside that this uproar was heard by the government, and the policy change has been put on hold, for now.

I know this is a loaded topic. For those who disagree with me, please share your comments below as I think this is an important debate for us to have out loud. While this shift for me occurred largely because of my work experience, I have a hunch that given the increase in use of genetic testing and the applicability of new genomic information, even seasoned counsellors may have altered their viewpoint on the ‘exceptionalism’ of genetics in the past few years. I’m interested to know: what is your opinion and has it shifted over time? Please cast your (anonymous) vote to my (very non-scientific) poll below.


Filed under Allie Janson Hazell

6 responses to “Taking Exception to Genetic Exceptionalism

  1. Deb Doyle

    Thanks for sharing this timely and important posting Allie. For me, it raises several considerations. From a “teachable moment” aspect, it’s the picture perfect “how NOT to develop public policy.” I too don’t know all of the background but the fact that there was an uproar by genetic and non-genetics trained health professionals suggests that both stakeholder groups were blindsided. This is never good when trying to develop policy. Secondly, what exactly is or was the problem that they were trying to resolve? If it is solely a cost issue, then by restricting who can order genetic tests may be a reasonable solution for some (not all) genetic tests and is a practice known as “privileging.” It’s really not all that different than saying only surgeons can perform certain surgical procedures. The trick, of course, is to figure out which tests (genetic or otherwise) are complex enough that they require a certain specialist’s expertise to order and interpret. I believe this is how Kaiser Permanent handles testing successfully within their system. And I would argue that privileging can occur without the more global label of “genetic exceptionalism.”

  2. Robert Resta

    Perhaps medical genetics will become a victim of the success in advances in genetic technology. The typical service and business models in medical genetics and genetic counseling are usually based on we geneticists evaluating the patients, ordering the testing, and interpreting the results for the patient and the family.

    But the concept of thinking about one or a few syndromes with one or a few tests will likely become passé as technology allows the ability to test for many syndromes with one sample at a reasonable price. Why fret over whether a family is a BRCA family or a Cowden syndrome family, or which skeletal dysplasia a child may have when we may be able to order a Hereditary Cancer Panel or a Skeletal Dysplasia Panel that answers it for us? If such panels become a reality, it may make a lot more sense and be more efficient to have primary care providers or non-genetic specialists order the panels, then pass along the patient to the geneticist for appropriate counseling, interpretation of the results (positive or negative), management recommendations, etc.? Heck, I’d be happy to allow non-geneticists the privilege of insurance hassles, properly filling out TRFs, obtaining samples, and shipping them out.

    Undoubtedly, some syndromes will still require the trained sharp eye of a medical geneticist before testing should be ordered and some syndromes will prove to have no identifiable DNA basis, but likely these will prove to be a minority that is big enough to employ some medical geneticists but not big enough to support the growth and expansion of the field. And, quite frankly, I am sometimes stunned at the number of genetic and other tests that some clinical geneticists order during the diagnostic work-up. I think many of these tests would not stand up to clinical and economic scrutiny. Before we point fingers, we need to examine our own practices (Oh boy, no doubt that one will rile up a few folks. I can already envision the Bob Resta Dartboards starting to appear in many clinical genetics departments around the country).

    Maybe we need to look at new service delivery and business models. The model of “Here’s My Patient, Now Tell Me What Syndrome He/She Has” may be replaced with a model of “Here’s My Patient With A Positive Genetic Panel (for cancer, diabetes, inherited metabolic disorder, growth delays, or whatever) Now Please Tell Me/The Family What It Means And How Best To Manage It” or some other model.

    Listen, I love and deeply admire the fine art of dysmorphology and the ability of highly skilled clinicians to almost magically pluck a diagnosis out of the air (and the best ones can scan the waiting room and will have already diagnosed half the patients before they’ve been placed in the exam room). Those skills will always be needed. But we may need to expand our concepts of our role in the delivery of medical genetic services and how we are reimbursed. Change may be good, it may be bad, but either way it’s coming. If we don’t develop new ways to navigate the current, we will be left in the backwater.

  3. Deb- You make a good point about the difference between ‘privileging’ and genetic exceptionalism. Although I do think it is an extremely difficult task to try and tease out and justify limiting the type of test a physician can order, especially in the case of genetic testing, which is a bit of moving target.

    Bob- I couldn’t agree more. Although I don’t think we will be talking about panels of tests but rather interpretation of whole genome sequencing results. This was a topic of conversation in a webinar last week about the ClinSeq project (hosted by Illumina). We do need to prepare for a world where we are matching a genotype to a possible phenotype, and not the other way around. The folks at ClinSeq (http://www.genome.gov/20519355) are getting a taste of this brave new world, and I think will continue to have some good insight to share with the rest of us.

  4. A

    As a genetic counselor working for Kaiser (and I speak only for my particular KP region), what was implemented about a year ago was a means of limiting genetic testing to the department of Genetics, with providers in other departments able to order genetic testing as long as it was sent to our chief for approval first. Not necessarily a perfect system, but it seems to be working for the most part. I think the concern was that there were some tests being ordered somewhat inappropriately by non-geneticists, as it can be easier to order these tests within our system (ie getting “insurance approval” is not necessary since Kaiser is both the provider and the insurer). For the most part since different departments work closely with us, often other providers are relieved to have the burden lifted of deciding which genetic tests to consider for their patients. This is just one system and obviously wouldn’t work for all hospitals. I’ve always been very torn about this whole concept.

  5. Lee

    I myself assume that specialists in any field are considered to be the experts in that particular area and therefore are best suited to determine the probable diagnosis of their patients, especially when dealing with conditions that primarily affect one biological system. That being said, I would agree with Bob that some providers (both geneticist and non-geneticist) could benefit from additional thought prior to ordering testing. As a former lab counselor, part of my job was to guide ordering physicians in selecting appropriate testing. A little judicial use of the Socratic method on my part would frequently result in an order for a single test rather than the 5-10 that were initially requested, without making it “my” decision. Unfortunately, not all genetics labs have the resources to examine every order with a critical eye, nor would they necessarily want to turn away revenue.

  6. JR

    While I certainly disagree that genetic testing can only be ordered by a geneticist, I do think that some genetic counseling should be provided by a healthcare provider. But I would argue this is the same as a healthcare provider explaining the possible results and implications of an MRI, blood test or biopsy.
    Having worked most recently in Cardiology, I find that genetic testing is used as a diagnostic tool like they would use an MRI or echocardiogram. As the GC, I often want the cardiologist to find cardiac evidence of disease, and the cardiologist wants the genetic test to show evidence of disease. Whether the cardiac or genetic test is more helpful is the difficult decision we have to reach by working together.
    I think over the past couple of years some cardiologists have become overly dependent on the genetic test, wanting to rely on genetic results rather than their clinical judgement. This type of ‘genetic exceptionalism’ is also not helpful for patients.
    Thus, our challenge is to collaborate other healthcare professionals so that genetics is integrated in healthcare in a cost-effective and patient-friendly manner.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s