Doc Talk #162 – Home Genetics Testing

Genetics testing used to be complicated, expensive and the province of specialized laboratories. The advent of direct-to-consumer genetics testing has disrupted this area, and now for a modest cost it is possible to peek into your own genetic makeup.

In this show, Dr Dan and Jamieson talked about developments in genetic testing including some of the products on offer.

Want to know how the tests work, what they can test for, and some of the privacy implications? (Interestingly, criminals have even been caught through the use of commercial genetics databases, such as the so-called ‘Golden State Killer’).

We talked about the importance of penetrance, expressivity and the relationship between genetics and health, and why we tend to overestimate the likelihood of genetic mutations causing disease in general. Learn about pharmacogenetics (predicting the response of individuals to medication) and its use in genealogy.

The interaction between formal medical genetics and the direct-to-consumer testing is fascinating, and we discussed the role of formal genetics counselling and clinical geneticists.

Before you spit into that cup and mail it off, listen to the show by clicking above to listen again.