There has long been a sort of parallel industry trying to capitalize on genomic advances — companies that promise to find your perfect mate through DNA matching, and other services of dubious quality. (Remember genetically tailored, personalized skin creams?)
So it's not surprising that when consumer genomics companies launched — 23andMe, Navigenics, DecodeMe, and so forth, all offering genetic tests to consumers and promising to deliver relevant information about disease susceptibility and other traits — they captured the attention of the general public but were greeted by the scientific community with something closer to a collective groan. What kind of pseudoscience is this, we wondered, and how will they fleece consumers this time?
But in the past year, these companies have proven themselves to be something else entirely. They use technology developed and respected by scientists — Affymetrix and Illumina arrays, for instance — and they strive to comply with government regulations for lab testing. Meanwhile, well-regarded nonprofit institutions such as Harvard and the Coriell Institute for Medical Research have launched programs to perform similar studies on participants, offering similar types of results. And all of the data presented is based on the scientific literature. So where's the snake oil?
For our cover story this month, Ciara Curtin set out to get a handle on just how scientifically sound these services are. Many researchers believe that these direct-to-consumer genetic testing companies base their offerings on real science — the questions are not about data validity but rather about utility and meaningfulness. There's a healthy debate going on about the value of common and rare variants, and Ciara gets into that as well.
Also in this issue, we have feature articles about synthetic biology and how it's increasingly being used in the drug development process, as well as on small RNAs and the need for better large-scale screening systems to make sense of what function they're performing. And be sure to check out our Lab Reunion column, which focuses on PNNL's proteomics guru, Dick Smith.