A Test for Every Genetic Disease

One of the challenges of tracking the future of healthcare is the signal-to-noise problem: seemingly every day there’s a new report from a lab that claims to have isolated a gene X for condition Y. These reports (usually press releases from a university PR dept) carry the requisite “so what?” paragraph that goes something like: “It is expected that in the future, this work can be extrapolated into clinical tests for condition Y, helping physicians diagnose earlier and helping patients get treatment sooner.”

Keith Robison’s Omics! Omics! blog has a much greater tolerance and acumen for this stuff than I’ll ever have, so you won’t see me try to keep pace with it all. But read them for months on end, and these “in the future…” paragraphs start to seem like a shellac layered on by said university PR department, in order to give their research a relevance that they really don’t yet have. After all, these genes are being isolated in labs, in vitro, and are usually one-offs - a long way from replicable results.

At least that’s how I read them, skeptic that I am. Until I happened a couple weeks ago across GeneTests.org, an NIH-funded directory of genetic tests that are available now, today. If you thought that genetic testing was only a piecemeal phenomenon so far, and largely experimental at that, GeneTests is an eye-opener. There are, in fact, over 1,300 tests now available for various diseases. Most of these are for detecting inherited diseases, ones that are largely binary in nature - you have the gene, you have a high probability of developing the disease. These are Huntington’s, Alzheimer’s, and other diseases that have very clear genetic origin.

Hsien Lee reminded me of the site in a recent post endorsing the issue backgrounders.

For a non-geneticist, I think it’s striking to recognize how significant it is that we already so many hundreds of genetic tests already available. What’s more, this is only the low-hanging fruit of genetic testing - the still more revolutionary stuff is when we can start crunching the presence of genes, the first signs of biomarkers, and certain environmental/behavioral conditions that get at more elusive diseases. This is the stuff of genetic epidemiology, such as the International Cancer Biomarker Consortium that Lee Hartwell is cooking up at the Hutchinson Cancer Institute. And my hunch is that this stuff is gonna be huge.

Published by: tgoetz on May 10th, 2007 | Filed under Epidemiology, Technology, Genome

2 Responses to “A Test for Every Genetic Disease”

  1. Hsien Lei Says:

    Hmmm. Somehow I think we’ve had this conversation before. lol

    One of the things that has most astounded me about genetic testing is the number of genes that can be screened as part of preimplantation genetic testing. Check out any IVF clinic menu and you’ll see them.

  2. The Genetic Genealogist Says:

    I agree completely - I think that the commercial demand will continue to be a driving force behind these innovations. I and many other genealogists have paid only a nominal fee to have a genetic test of one sort or another (typically mtDNA or Y chromosome sequencing) done. The number of individuals who are interested in testing continues to grow (one of the biggest genetic genealogy companies, Family Tree DNA, reported a huge increase in numbers last year). I’m really excited about what gene testing can offer now, and what it will offer in the future!

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