bbgm - the discussion - Latest Comments in Your SNPs are your information

Re: Your SNPs are your information

mndoci — Thu, 19 Jun 2008 17:21:47 -0000

I pretty much agree with you on every point. The nature of the services is clear, and well defined, at least the more visible ones.

They haven't even given the market a chance to screw up yet :)

Re: Your SNPs are your information

Mr. Gunn — Thu, 19 Jun 2008 16:08:04 -0000

Doesn't this really hinge on how things are represented? The DTC genetic testing services that the CLIA applies to are explicitly for a medical purpose. 23andme's service is explicitly not for medical purposes. While I agree they should hold themselves to the same standard as a medical testing lab, the fact is they aren't, and go to great lengths to make sure people understand this. If, despite all the warnings to the contrary, someone uses their 23andme information to make a medical decision, that's their own damn fault.

All they have to do if they're worried about something in their 23andme results is to go see a doctor and get themselves an actual genetic test designed and validated for diagnostic use. Then they, with the help of their doctor, can start making medical decisions with no hand-wringing about 23andme's accuracy necessary.

Someone could potentially use one of those personal breathalyzer things to decide whether or not they're safe to drive and get a DUI anyways due to an instrument failure. Does that mean they shouldn't sell them, or do we give people the freedom to have it along with the responsibility to accept the consequences if they put too much trust in its results?

Re: Your SNPs are your information

mndoci — Thu, 19 Jun 2008 00:31:41 -0000

The experiments are being done, at this point, using Illumina and Affy arrays, which are fairly standardized now. It would be good if they (or the labs doing the tests) released the workflows/procedures being used, e.g. what genotype calling algorithm is being used, what QC procedure as you say, what statistical algos etc.

Perhaps if you are a paying customer they give you these answers. The markers they use are fairly easy to find out about, and the calling algos are also somewhat obvious. If the experiments are being done in a CLIA certified lab (which is the standard any diagnostics company needs to support, or any pharma service provider), then that shouldn't be a concern.

I'll add that those who have downloaded their genotypes and re-analyzed them using alternate methods have found the results to be consistent (two data points)

Re: Your SNPs are your information

Richard — Thu, 19 Jun 2008 00:25:05 -0000

While I agree with virtually everything you say, I do wonder about the level of accuracy in the results. Even a low level of error can have real world ramifications. Commercial labs have to be held to a high standard.

I frankly have not investigated what the QA/QC procedures of the different companies but would feel more comfortable if a third party provided some numbers..

Maybe something for Consumer Reports ;-)

Re: Your SNPs are your information

Mr. Gunn — Wed, 18 Jun 2008 11:50:09 -0000

Well said, but note that many genetic counselors feel threatened by these services, informational or not. Perhaps there should be some outreach to doctor's associations to soothe their worry?