It’s easy to see genomic data regulation in romantic narrative terms — The plucky little guys who want to be free! The big, bad institutions who want to control them! — and it’s also a trap. Interpreting genomic information in a medically useful way is very, very complicated. It’s easy to do badly — and people may make life-altering decisions based on bad information.
Gene-testing companies already have a track record of offering tests unsupported by unsupported by clinical evidence, such as CYP450 testing to determine antidepressant dosage. A let-the-market-regulate-itself, buyer-beware approach isn’t any more desirable than it would be for new drugs.
We’re discussed this before. The shorter perspective from me is that on principle I don’t object to regulation, but when viewed across the constellation of things which our government regulates, I don’t see the case for direct-to-consumer genomic services being monitored closely. A result from 23andMe will not kill you, though it may lead to a sequence of actions which may kill you. But this is unfortunately a problem with the whole diet industry, which is often based on unsupported fads and fashions, and has a much larger social impact. Nutrition is very complicated with incredible real life consequences, and yet regulating it would frankly be a fool’s errand. You may destroy the American diet publishing industry, but you can’t prevent internet message boards. Similarly, the SNP-chip results themselves are commodities, and with client and server analytic software proliferating in the next few years the reality is that the market will regulate itself! And unfortunately, the impact on peoples’ lives will be the same, for good or bad, as the diet industry.
For a firm like 23andMe I can see how getting cleared by the FDA makes sense. It probably protects them more against liability, because they are going to offer services with medical relevance, and that is going to result in good & ill. In contrast, if you write an application which hooks into public databases like SNPedia you probably aren’t going to be sued. So in the future I see a two-tiered system emerging. The regulated sector, which is going to be expensive, and probably have costly doctors on staff who don’t add genuine value, but reassure gullible customers as to the veracity of the results. And a more unregulated (“open source”) market segment where people run their genotype through algorithms. Because of the large scale lack of power of personal risk prediction I doubt there’s going to be much difference in either case in terms of health outcomes.
Oh, and last year I released my genotype into the public domain. I just got this email yesterday:
I am writing to you as I have been developing a program that looks at 23andMe data in a different way from ‘Promethease’, see: www.ianlogan.co.uk
And, as you have placed your 23andMe results on the Internet I have run them through my program.
23andMe with their V3 chip test around 960,000 SNPs and my program at the present time looks at around 900,000 of these and searches out the ‘rarest’ SNPs – hoping to identify something special.
As your results are still in a ’2011 format’ from 23andMe I have not been able to run your results quite as I would wish – but I do get some results. (And, if you do upload a current Raw Data file I’ll be able to get some additional results.)
The data below this email shows that you carry the ‘minor allele’ for about 15 SNPs that are both uncommon and do cause missense mutations.
Fortunately, you are not homozygous for any significant SNP
(excepting rs11541183 – which I think the data is poor & misleading).
Therefore, so far I haven’t find anything very exciting for me, or of any real concern to you.
It maybe that looking at 960,000 SNPs is too small a number to be giving significant results, and perhaps what I am doing is really just preparing the way for the future when 23andMe test several hundred millions of SNPs.
Another thing the results from the program show is that we know very, very little about most of the proteins.
I’ll be interested in your comments.
Dr Ian Logan
Unfortunately I bet I do have some homozygous deleterious loci (though obviously not lethal). Will be happy to find out at same point in the future. Unfortunately I can’t provide updated raw data, because 23andMe’s frozen downloads for a week (new build).