New Frontiers in Personal Genomics

ronlichty's picture
Sun, 2013-10-13 09:52 -- ronlichty

Whether or not you want to know if you're susceptible to various genetics-related diseases, and whether or not you're interested in your ancestry, identifying adverse drug reactions, drug response and drug sensitivity is HUGE. I'm definitely getting a profile.

That's my take-away from Joanna Mountain's talk this week at the Emerging Technology SIG of SVForum.

23andMe profiles are down to $99. The health-related reports returned are up from the original 13 when 23andMe was launched in 2007 to 237 today (and growing).

How it works: it's not sequencing - they're using a chip - it has been shown to deliver multiple 9's of accuracy (99.9…%). They look at one million positions (and impute 20 million nearby ones) - that's out of three billion, but they spent a lot of time choosing sets of positions that are significant to disease. When results are concerning (i.e., indicators for
Alzheimer's and other diseases), they validate with other technologies.

What I find compelling are two results sets:

1) for some people, results explain weird health anomalies (e.g., reactions to gluten, a condition that can be hard to figure out)

2) they can predict which drugs and what doses of drugs you will respond to (huge if you ever need warfarin, for example, a drug that can be both life-saving and life-threatening) or drugs that might be a danger

- Ron

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