Do Genetic Associations Matter?
So I was speaking with some people in the genomics-information business this week (will disclose who in due time), and I asked them how they dealt with the constant onslaught of genetic discovery research, specifically the dozens of associations with disease that are published every week. (For instance: a quick Google news search turns up this one for Alzheimers, this one for gastic cancer (warning: video plays), this one for “suicidial thoughts,” this one for polycystic ovary syndrome, and so forth.)
If you’re hoping to make sense of all of this, I asked these fellows, how do you track it? Tagging? Filtering? Interns?
The answer: We don’t bother. Their feeling was that most of these discoveries are one-offs, and not scientifically significant (at least until they’ve been replicated by other research). So rather than try to sort the wheat from the chaff based on the study parameters and so forth, they just ignore it all and wait for concensus to emerge. And here was the remarkable part: Of the thousand (two thousand? three thousand?) of genetic associations that have been published, they figure about 50 are actually established. Fifty. That’s it. Not a great hit rate, for science, really. But it makes sense - wait for a finding to be reproduced before taking it as possible, that’s basic science. And unless you have massive studies like this one in the new issue of Nature that’s pulling together great arsenals of data (rather than looking at smaller cohorts), well, it’s probably right to applaud the effort but ignore the results.
June 7th, 2007 at 1:00 am
Interesting. For the most part, I’ve stopped writing about disease-association studies as well since they have no relevance to people’s immediate lives.
June 7th, 2007 at 1:30 am
The only time association studies are relevant is when 1. they are replicated 2. Their is some clinical relevance, such as how to dose a drug or how to prevent a disease 3. When the media overstates their importance and you need to correct them.
-Steve
www.thegenesherpa.blogspot.com
June 7th, 2007 at 1:34 am
[…] Thomas at Epidemix asks - Do genetic associations matter? […]
June 7th, 2007 at 2:09 am
I partially disagree with the comments by Hsien and Steve. It is certainly correct that an association must be replicated to be trustworthy. However, to assume that associations are interesting only if they are immediately relevant to people’s life or have an impact on disease treatment is an extremely medical point of view. Science is not all about genetic testing - there is still the hope that a number of RELIABLE genetic associations will tell us more about the biological pathways involved in a disease. Maybe, at on point (in the very far future) systems biology will be mature enough to use these data for explaining what is actually causing these complex diseases.
One of the more puzzling aspects of disease associations is that the associated polymorphisms are rarely found within those genes that you would expect. More often, they seem to be in the middle of nowhere, or in genes that appear very disconnected from the assumed disease mechanism. In my view, finding an explanation for this is a major challenge for science (and bioinformatics in particular).
Best Wishes, Kay
June 7th, 2007 at 6:37 am
I would second the opinion that they are important for what they tell us about biology, or at least suggest for further experimentation. They are certainly a noisy information channel, but there is information there.
I think also that it is worth looking at the study size & who ran it. The studies are getting much bigger (look at the one in the new Nature) and the field is learning from past mistakes and irrational exuberance. A number of the recent association studies also came with simultaneous publication of the same associations, meaning they have been replicated from the get-go.
June 7th, 2007 at 12:37 pm
For scientists, yes, disease-gene association studies are still important. For the lay person, it’s just not all that relevant at the moment. And for the purposes of Eye on DNA, at least, I think I can generate a lot more excitement for genetics, DNA, and genomics using other “hooks.”
June 18th, 2007 at 7:33 am
[…] “Do Genetic Association Studies Matter?” Once you’ve done your Omics homework, read Thomas’ post at Epidemix. The short answer: No. Yes. Maybe. Stay tuned. Like many, I’ve stopped blogging about “this gene association just found!” as the press release pile up, and am holding out for “this association just confirmed by multiple, world-wide population studies.” Now the challenge is how to track the studies until a critical mass is reached remains. […]