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.