New personal genomics company looks for rare disease mutations

Blaine Bettinger of The Genetic Genealogist breaks the news of the launch of a new personal genomics company, DNATraits.

The twist: rather than scan your entire genome for common variations, like the Me Two (23andMe and deCODEme), DNATraits allows you to choose the genetic tests you want from an online catalog: for instance, an introductory panel allows you to look for variants that cause four rare diseases, at a cost of $300. A lazy back-of-the-envelope calculation based on the carrier frequencies quoted by the company suggests that more than 8% of people of European origin will carry mutations that may predispose their children to at least one of these diseases.

Blaine notes the company's interesting incentive structure:

The Standard Membership ($50) includes a DNA collection kit, any one test offered, free genetic counseling, and storage of DNA for five years. The Premium membership ($150) includes a DNA extraction kit, any one test offered, free genetic counseling, storage of DNA for five years, and a 25% discount on individual tests and 10% discount on panel tests for two years.

In other words, get clients in with an introductory panel or with assays relevant to their family history, and then encourage them to take a few more tests to put their mind at ease. The genetic genealogy market demonstrates just how much money people can be induced to spend on genetic "hobbies" once you get them hooked - something DNATraits will be well aware of, given that they're a spin-off from Family Tree DNA.

While it's still unclear whether this type of approach will make for a viable business venture, this launch changes the tone of the personal genomics field.

The current crop of personal genomics companies only screen customers for common variation, and thus produce disease predictions involving slightly increased or decreased risks of comparatively benign conditions (like type 2 diabetes). DNATraits has now brought targeted analysis of rare, severe disease genes into the personal genomics market, meaning this field is suddenly starting to look a lot more serious.