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by Allie Janson Hazell | May 13, 2011 · 2:01 PM

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.

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Tagged as Genetic counseling, genetic counselling, genetic exceptionalism

by laurahercher | January 13, 2010 · 8:03 AM

Intellectual Climate Change: Can we Survive the Rising Sea of Data in the 21st Century?

Happy New Year! It’s a whole new decade – time for some summing up, and some looking forward.

If I had to pick a defining image of the last ten years, it would be a tidal wave – a wave as big as the wall of water that drowned New Orleans, as big as the Christmas Day tsunami of 2004 – a flood not of water but of information that has broken over our collective shores. Google search “information overload” and Wikipedia (result number 1 of 3,060,000) defines it as a condition resulting from the near instantaneous access to too much information, “without knowing the validity of the content or the risk of misinformation.”

The fact that our ability to produce and disseminate information has entirely outstripped our ability to analyze or fact-check is a reality of modern life. To be sure, genetics is no exception – what with aCGH and the HGP and GWAS and other technology-driven acronyms spewing out data on the one hand, and the Internet on the other, where PLoS shares server time with the Discovery Institute, generator of creationism repackaged to resemble scientific research.

We might be forgiven for thinking, some days, that genetics is the ground zero of information overload. But it’s not. It’s happening everywhere. Genetic counselors are often appalled at the giving out of genetic information willy-nilly – witness the response on the genetics community to such unwelcome friends in the sandbox as 23andme or DeCodeme – and the knee-jerk reaction is to say that genetic information is special, uniquely powerful, and must be given out by those with specific education and counseling skills (Hey! That would be us!).

This type of thinking runs along the lines of genetic exceptionalism – the notion that genetics is fundamentally different than other sort of information and must be treated differently as a result – and while in some ways it may be right, it is also increasingly unrealistic. Yesterday’s PhD thesis work is tomorrow’s home-brew chemistry experiment, and microarrays are changing the economics of testing so that panels that once checked for 8 or 9 conditions now check for 300, while full-genome sequencing lurks around the corner, the paperback version of the HGP, available soon on Amazon.com.

What can we do, not to be the ones with our finger in the dike as the information tsunami rises around us like ocean water lapping at the Maldives? We can’t cut off the flow of information. We often call for commercial companies to give out information through genetic counselors, but is that really a solution? The idea of commercial entities that do it “right” rather than “wrong” is comforting, but self-regulation poses inevitable conflicts of interest.

We may have jobs, perhaps good jobs, from companies that need genetic counselors to explain their products to consumers, but that doesn’t mean that, for genetic counselors as a whole, jobs within industry are a solution to the information overload dilemma. Drug companies hire doctors to promote their pharmaceuticals, and while there is nothing wrong with working for a drug company, employing physicians is not the functional equivalent of a regulatory framework.

Across all fields from journalism to philanthropy, people are discovering ways to act as the mediator between the flood of information and the end users. The next-generation winners in information management are those who will be able to sift through and shape the available data flow into a manageable and trusted form – information brands. We need to be consumer reports; we need to be wikipedia; we need to be CNN – we need to be a trusted filter that distinguishes true and false as well as necessary and unnecessary for the consumer of genetic information. Jobs within industry will flow from that branding – what else do we bring, that a pamphlet or a webpage could not just as effectively communicate? – but they will not create the brand. What will? That is the million dollar question.