John Timmer over at Arstechnica has an good rundown from the World Science Festival. Specifically, he summarizes a panel about the prospects of genetic testing. Not like the simple genotyping currently done to see if patients are carrying mutations or markers for a select few disorders but whole genome scans, producing a vast array of information for multiple phenotypes. The holy grail of genomics is a scenario in which your DNA can be easily and quickly sequenced, risk factors in your genetic code identified, and therapies prescribed. Clearly that scenario does not currently exist. All the panelists agreed on one thing: genetic testing hasn’t gotten to a point where it’s a viable basis for treatments. And I completely agree with that. Right now the technology does little more than provide hypochondriacs lots of stuff to worry about.
The problem I have is the negative vibe that comes across from some of the panel. Sure, running a SNP chip on your DNA right now would accomplish practically nothing. The chip would be laughably incomplete and you’d only be getting a test for the fraction of disease-related SNPs that we’ve identified. That doesn’t mean the technology should be shunned or put down. You have to crawl before you can walk, other trite phrases, etc. Technology is an exponentially growing field. And as the gaps in our knowledge base get filled in, we’ll be able to provide better and better diagnoses for patients. Each individual marker or polymorphism may only be a tiny piece of information when determining disease risk. If I have a G instead of a T somewhere, maybe I have a 0.5% higher risk of getting Disease X. But putting together a large number of them forms a foundation for a quality prediction. Now you’ve got the genotype for hundreds or even thousands of revelant points in the genome. And their benefit is exponential as we learn not only how they relate to risk by themselves but in conjunction with the other polymorphisms. We may never reach the holy grail scenario I mentioned earlier (possibly because of environmental factors) but the potential is still there and that’s a reason for optimism. Besides…if we don’t push forward with genetic testing the hypochondriacs will be stuck in the past, using WebMD to diagnose themselves with various ailments. Won’t somebody please think of the hypochondriacs!?