Tuesday morning I went to a SXSW panel on “Personalized Health.” The featured speaker was Dr. Linda Avey, a geneticist and entrepreneur who founded 23andme.com. Much of the talk centered around her work at 23andme and their continued progress since her departure. I was quite impressed with the capabilities of 23andme and their project making personal genotyping publicly available. However, I had some concerns, and they have a lot more to do with communication than with medicine. In that area, if I may be so bold as to correct a successful geneticist, Dr Avey’s plan needs some improvement.
For $99 anyone can purchase a kit from 23andme, send in a saliva sample and get back a full report on their risks for various genetic diseases, whether they are a carrier for certain genetic diseases, information about their genetic ancestry (you might be surprised!) and information about how their body might react to certain drugs and allergens. The goal behind projects like 23andme is twofold: first, empower patients with their own data; second, build a robust database of genomes to increase the reporting accuracy by comparing each sample against the database. The end result – we all hope – is a healthier world.
While I appreciate the scientific benefits of this project and especially the health benefits to the human race, a few of the applications gave me pause. Dr. Avey mentioned first the great benefits of sequencing an infant with medical difficulties to help determine what might be the problem, which is all well and good. Then she mentioned – in passing – that another clinic has discovered a way to non-invasively obtain a DNA sample from a fetus, which could be sequenced so the parents could prepare for any eventualities. Not sure how that works, but let’s go with it; I can see how that would be helpful, but it presents some distasteful social possibilities. Finally, Dr. Avey mentioned the possibility of prospective parents having both their genome types reviewed to identify any issues before pursuing conception. In the hands of private citizens, this could be very helpful.
Now, I am not arguing the tremendous benefits these applications are meant to bring us – I’ll even say the benefits they will bring us, since I’m pretty confident this will become common place one day (just based on historical trends). What concerns me is the potential for two things: abuse of the knowledge given through sequencing and the possibility of the technology being shut down out of fear. Both are very valid and very scary.
This kind of data could be abused by private citizens in much the way that ultrasounds are abused in many places in the world to enable selective abortion in favor of sons versus daughters. On the flip side, these tests and their data could also be abused by authorities to control reproduction. Neither possibility is acceptable.
Nor is it acceptable that this medical technology be silenced due to fear.
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