If you read my last post, you will know I attended a Public Forum on Genetic Testing last week, hosted here at McGill by the Science Policy Exchange (SPE). Firstly, I would like it say congrats to SPE for putting on a great event! I’m not sure I mentioned before, but SPE is a group of graduate students and post-docs that are interested in the intersection between science and public policy. If this is something that interests you, visit their website to see how you can get involved. They’re a fun group of people!
But about the public forum, there were 3 speakers; a genetic counsellor, a lawyer from the Center of Genomics and Policy (CGP) and former senator Cowan who has bill in the House focused on preventing genetic discrimination. So what did I learn? Well I think there are still questions out there, but there were 3 big topics they seemed to focus on.
Asking the right questions. This was by far the biggest take away for me. Nathalie Bolduc, a genetic counselor, spoke eloquently about the different types of genetic tests out there, from prescription only Expanded Carrier Screens that look for carriers of up to 300 genetic disorders to the more commercial products such as 23andMe. What she kept coming back to is the fact that you need to know what you’re asking for from these tests. And more often than not, it’s important to get a physician involved with the interpretation of the results, especially if they have health consequences. She shared an anecdote in which she took 5 different carrier screen tests and got back 5 different results. It’s not that the sequencing was inaccurate, but that the interpretation was different in all cases. Knowing things like the risk cut off, or the number of mutations sequenced and what those specific mutations can create differences in how certain people will interpret the results. She specifically mentioned 23andMe and pointed to their testing for a BRAC1 mutation. There are several BRAC1 mutations that can increase a women’s risk for breast cancer. Some companies will only sequence the area where a specific mutation might be, but its absence is not a guarantee that there aren’t other mutations present. So it’s important to have someone that can counsel you and explain what these results actually mean.
The right not to know. This was a phrase that came up a couple times and I think it touches on a couple interesting points. First is a patient’s right to know or not know. It’s why people might decide not to take tests of things like Huntington’s Disease. That knowledge can be a lot to handle so it’s a question we should all ask ourselves before taking one of these tests. Do we really want to know? Second is more to the point of Bill S-201, which if passed, prohibits anyone (such as employers or insurers) from forcing someone to take a genetic test or disclose the results of a genetic test. In a sense, you have the right for the others “not to know” the results of these tests. This will be a huge step to combating genetic discrimination.
Making data “publically” available. As a biological scientist this was one of the most interesting parts of the event for me. Andrian Thorogood, a lawyer with the CGP, spoke about promoting open databases of genetic sequencing that researchers can all access. He talked about ways the data was protected and the need to create rich datasets that links things like genome sequencing to long term patient health outcomes. The need to balance privacy and security with the ability to further research by sharing this wealth of information. He also touched on how patients can request and donate their own genome sequencing to these open databases to help further research.
All in all it was a very interesting night! I enjoyed listening to the speakers and hearing the questions from the public. If this sounds interesting to you, SPE is holding a second public forum in this series in 2 weeks (June 6th) on Genome Editing. It promises to be just as interesting. Register here!
Banner Image by @geralt // @pixabay.