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, 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.