Today in the NYT an article pops up which slightly disturbed me. The reporter had her genome sequenced by 23 and Me. What turns out is that indeed he is using his information for health. Surprise....when everyone was saying...."It looks as if 23 and me will only be doing ancestry analysis" WRONG.
So why am I disturbed? Genomic Voyeurism is on. Without the standard interpretation and guidance....people are soon to be hopping on the genome train. What is not explained is the fact that most of these tests are mere party tricks. Data to support their use in healthcare and prevention is fishy at best. Just like the snake-oil salesman, we have these companies peddling a peek into the future. All the while they are stealing ownership of your DNA!!
an example from the NYT
"For instance, I tragically lack the predisposition to eat fatty foods and not gain weight. But people who, like me, are GG at the SNP known to geneticists as rs3751812 are 6.3 pounds lighter, on average, than the AA’s. Thanks, rs3751812! "
The gene implicated here is FTO, affectionately called FATSO, or FAT MASS- AND OBESITY-ASSOCIATED GENE. What is not explained in detail is that there are several variants of this gene. Some have significant data behind them. rs9939609 is one. But rs3751812 is not nearly as well examined. Chew on this to get a flavor of the nuance going on in these studies. Or this. To spout of risks and likelihoods via google is exactly where we are going to have some problems.
We all know that cigarette smoking causes emphysema (The horrible debilitating breathing condition requiring you to carry around an oxygen tank). But, here's a little known secret. ONLY 15% of smokers ever get emphysema. Why don't we tell smokers this? Because it'll give them false hope that smoking is ok. Why isn't it ok? A much higher percentage than 15% get lung cancer. How do we know that not being a carrier of this change is all that beneficial? The answer: We don't. So how can we make false assumptions about the allele rs3751812?
The Sherpa Says: What is tragically lost in this article is that explanation and understanding need to accompany genetic data. Otherwise we are left to our own assumptions, and we saw how right we were about that universe revolving around the earth . Or how about our world being flat? See what I mean. Without further examination, the advice 23 and Me, Navigenics etc. are giving now is just plain useless. That is precisely why deCODE has stated that their test should not be used for medicine. Only healthcare practitioners trained in interpreting your data should be.......Hey that sounds like us. Too bad there are only 100 geneticists who are trained in adult disease :( As for the disclaimer not to be used to diagnose or treat...last time I checked, I am ordering the same tests as 23andME to diagnose and treat! Maybe they should add a caveat "But to steal your genome" at the end.
4 comments:
I knew that article would get you riled up -- but here's the problem: if I want to have my genome sequenced, I already understand the risks, rewards and statistics underlying the results: and I don't want to be deprived of having access to my information just because others (like the sadly ignorant NYT writer) are less well informed. But maybe a better approach would be for companies like 23andme to just give their clients the base pairs with no further interpretation. Then, the company should offer an upsell of a genetic counseling and evaluation, or even a recommendation to a qualified health care provider like Helix, which the client could either follow-up, or simply choose to do their own research. It's a weaker business model, but maybe it's a more ethical approach. It was certainly sobering to see how the NYT writer was not emabarrassed to display her ignorance on the front page of our paper of record, as the whole article was a train wreck!
For those who understand the risks, rewards, and statistics even an IRB can't keep you from getting tested.
This was the case with George's first go-round with the PGP. It's obvious that these companies don't have IRBs.
The most scrupulous way to release the info is as basepairs, I agree. Or at least let wikipedia have its way with their "proprietary" database.
Only by making it opensource can we have true analysis of the data. But what good is that for a company who is looking to make some money? Look at DNADirect's bogus questionnaires guiding you to do unneeded testing. African American? Maybe HFE testing is for you.....
Yes, true, helixhealthofconnecticut does charge for its knowledge and guidance. Much like most physicians do. Is the public so hungry for this data that any info is good info? I refuse to believe that. Especially when there are still risk of discrimination in some states.
Genomes are private health information, but not if they are done out of the medical scope!!
Yes the article got me riled up. But the content (or lack thereof) was of no surprise.
-Steve
www.helixhealthofconnecticut.org
Hey Steve,
I'm just catching up on your articles over the past couple of days...this is a good one.
I totally take your point that if 23andme attempts to build their "association/risk" database using the same tools that google uses to tag their images (see "Google's Racist Glitch, we're in for a bunch of unnecessarily worried customers.
The simple answer for why rs9939609 is not included in 23andMe's data set is that it's not on Illumina's chip! (In contrast to rs3751812, which is.
I hope these companies aren't regulated. People should have the freedom to gain information about themselves, regardless of their mental ability to use the information wisely, period.
With regard to Helix Health of Connecticut's "better" service, is it that you simply have done better research than Google's (sorry 23andMe's) dbSNP bot?
I think "any info" in the context of these studies could indeed have a net positive effect on people's health, because (much like that NYT author stated) it's a more powerful message when it comes from one's own DNA.
I share your concerns. This is one hype that should be controlled. Personalized medicine is important and it does deserve some financial investments but it should not be at the costs of naive people craving for their identity and destiny.
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