The rise of genetic testing in Canada’s health system


Ever since American biologist James Watson and English physicist Francis Crick first discovered DNA in the 1950’s it has held out the promise to revolutionize medicine and the treatment of disease. The potential to screen for diseases such as Alzheimer’s, Parkinson’s, Cancer and a myriad of other diseases with a genetic component meant that science would for the first time be able to treat disease even before the first symptoms had appeared. It is only now, over 60 years later, that we are seeing the first use of genetic testing to screen people for disease that they may develop later in life.

These developments in our technological ability raises all sort of ethical questions that have not yet been answered. Some of the companies that are pioneering the widespread use of genetic testing are trying to answer these questions. Geisinger Health System of Pennsylvania has launched the MyCode Community Health Initiative which aims to test the DNA of 166,000 participants. The study is not only doing the sequencing in the hopes of gaining greater understanding of how to prevent and treat disease. Geisinger also hopes to answer the questions surrounding how primary care physicians deal with telling patients about defective genes and the challenges of the follow-up with relatives who could also be at risk.

Many genetic testing companies have emerged that will screen your DNA for a host of genetic diseases for a fee. The most widely known being silicon valley startup 23andMe. There is an ongoing debate about the efficacy of genetic testing when it is not supervised by a Doctor and conducted solely by a lab. Many in the medical community see the potential for genetic testing done by companies who can back up the results with strong scientific data but caution that without the proper supervision this could end up being easily abused.

This also pales in comparison to the opportunities for abuse that arise when we extend genetic testing into the area of human reproduction. We have witnessed the effect that just being able to determine the gender of an embryo has had in promoting selective abortion in the developing world. We may be about to witness something similar as genetic testing of embryos becomes routine. Would people chose to abort an otherwise viable embryo if the genetic tests shows a predisposition to Type 2 Diabetes? Alcoholism? Or just the wrong eye colour? Where do we draw the ethical line? When you start to get involved with people and their future children you open up a potential legal and ethical minefield were the right answers may not come only from medicine but also the courts.

Genetic testing has great promise and will in all likelihood become as routine as today’s standard blood test. Though currently it can be quite expensive and not all medical insurance currently will cover it. There are still a lot of unanswered questions about how we deal with the information that this testing gives us and how that information should be treated and who should have access to it. Hopefully in the next few years those questions will be answered.

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