Note to self: Genetic risk is an estimate

I chanced upon this article – Genetic testing under the microscope – in the Los Angeles Times of an interview with the President of the National Society of Genetic Counselors, Angela Trepanier, and she presents an interesting perspective on the future of personalized medicine.

In the near future, Trepanier says that genetic testing will become a routine part of healthcare. Right now, access to one’s genetic information can be had for at least $400, and one is able to find out which diseases and conditions your genetic makeup may be association with. But the company doesn’t offer any medical opinion or diagnosis, obviously. Trepanier asks rhetorically, "If your only source of information is the company selling the test, is that really the most credible source of information?"

What’s the potential harm?
The emotional harm of finding out something that completely blindsides you, like [being at risk for] Alzheimer’s disease. There’s the financial harm of doing a lot of screening tests [for a disease] and then finding out five years later you never needed to do that. If you find out you’re at low risk for heart disease, then you don’t cut back on that extra hamburger, you don’t exercise. What if that’s against the medical advice you’ve gotten from your physician? That’s a potential harm.

Yup. Having a high genetic risk for something does not necessarily mean developing the disease, and corollary, having a very low genetic risk does not mean escape. Complex diseases such as asthma, diabetes, and even alzheimer’s are so dependent on the environmental component (and gene-environment interactions) that it’s hard to separate risks and variations. That’s why it’s called "risk" and at best it is only an estimate, a probability. There is still so much of the unknown in the equation.

Maybe I should really talk to someone from the inside of personal genome to understand what they’re offering.