Your SNPs are your information

A quick follow up to my previous post. Reading Rob Carlson’s wonderfully written post on the C&Ds sent out by the California Department of Public Health to 13 consumer genetics companies got me thinking. He writes

There appears to be some tension between the interpretation of tests ordered for diagnostic purposes, which probably should require a prescription, and sequencing or genotyping services that provide information about a consumer’s genetic makeup.

That about sums it up doesn’t it. To a degree it reminded me about all the debates about intellectual property and ownership that led to the formation of Creative Commons. Biology is an information driven science and our genetic makeup is a fundamental piece of information. The WebMDs of the world provide information. Wikipedia provides information. Out of curiosity, I decided to take WebMD for a drive and look at 23andme as well (anyone can sign up for an account and explore the site). I chose a disease for which 23andme says the research is well established, Colorectal Cancer. The information includes a writeup on the biology of the disease with links out to resources like the American Cancer Society, etc. There is a hypothetical summary report as well (for the dummy family you are assigned) based on the known SNP for Colorectal Cancer. Here is what it says

This SNP occurs in a hypothetical gene called LOC727677. Little is known about the gene’s function; however, it is located in a region of DNA that often acquires extra copies in colorectal cancers. This suggests that the SNP is linked to a change in the activity of a nearby gene that influences cancer development.

One group found that the riskier version of this SNP is associated not only with an increased risk of colorectal cancer, but also with formation of the precancerous adenomatous polyps. This suggests that the SNP is linked to a gene that affects the very early stages of colorectal cancer.

The riskier version of this SNP has also been linked to prostate cancer in some studies, though more research is needed to confirm this association.

The studies whose data we report as applicable to those of “European” ancestry confirmed the association between this SNP and colorectal cancer in samples from the United Kingdom.

The association has not been investigated in samples of Asian or African ancestry.

One could argue that in the absence of a recognized test, this information doesn’t mean much. But note that part about information. That’s the key. This doesn’t say, you need to get yourself tested. All it tells you is about the biology of the disease and what we know about the SNP.

The other key is the blurb right on top of the Resources tab

The information presented on 23andMe is not intended as medical advice and should not be used for diagnosing, treating, or preventing disease. If you have questions about your genetic information and its relation to the latest scientific findings, here are resources you may find helpful, including available tests, interactive tools, and professional organizations and individuals in your local area.

The WebMD information is rather extensive, although not half as well presented. You can do a lot of digging, and find out about when and why you might need a genetic test. I see the two services as complimentary at some point in the future, since WebMD has a much larger scope. But in the end both are information resources, to be used by us (consumers) as per our needs, interests and opportunity.

To an extent, I just took a somewhat long detour. The point remains the one that Rob makes about information, and who gets to decide. In a market driven system, assuming CLIA labs are being used (there I agree with the health department), and where you are not being promised what is not possible, then, let the market decide whether these companies should exist or not.

I will end with another snippet from the blog post that started this post.

There are a great many snake oil peddlers and quacks out there who offer no caveats as to accuracy or effectiveness, and in comparison 23andMe and its competitors appear paragons of virtue. Direct-to-consumer genetic information services are creating a new market, and there always bumps along the way in that endeavor, particularly when regulators decide they know more about technology than do innovators. But it is a market. It is not, in priciple, directly related to health. Caveat emptor. Since when is this the concern of Department of Public Health?

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