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Direct-To-Consumer Genetics Testing Makes a Splash In Boston
eldavojohn writes "MIT's Technology Review has the scoop on the first annual Consumer Genetics Show starting today in Boston and it looks like the rage these days is genetic testing sans the middle-man physician. And it's getting more prevalent and more available: 'A number of companies offering direct-to-consumer genetic testing have cropped up in the past two years to capitalize on these advances, from 23andMe and Navigenics, which offer genome-wide scans to identify specific disease-linked genetic variations, to Knome, which offers whole-genome sequencing to the wealthy. Any doubts that personal genomics is making its way into the mainstream can be assuaged with a look at Interleukin genetics, a startup that sells genetic tests for heart-disease risk, B vitamin metabolism, and other factors through Amway, the direct-sales company.' Over-the-counter genetic tests may be much closer than you think. The article raises concerns that this information will be misused/misinterpreted or even provide a false sense of security. We've discussed some states prohibiting this last year."
Have your own DNA sequence would be cool and everything, but it's not everything. Epigenetic changes have a massive impact on gene expression, they're not included in the sequence and they're heritable. Of course, there are lots of things you can look at in the sequence, but you could miss a lot by getting too hung up on just the sequence.
Don't even get me started on the complexity of the bioinformatics that will be involved in resolving this data. All you'll need is for somebody to misplace a switch in the pipeline of tools you need to analyse data from these insanely complex high-throughput sequencing devices and you could get completely unreliable results.
Of course, that won't happen because IT professionals never make mistakes.
The difference between a pathological and a normal allele could be just one SNP - any number of cockups in experiment or analysis could misidentify this kind of difference.
I know, this kind of misdiagnosis can happen anywhere, but these companies are selling some kind of miracle new method when we're only just getting started on understanding how high-throughput sequencing works. Bad idea.