Your personal health: Consumer genomics becomes reality

23andme is finally coming out of the woodworks, just as the granddaddy of personalized medicine, deCODE also announced a consumer genetics service called deCODEme. 23andme, Navigenics, and DeCode are just the better known players in this space. Helix Health and other less well known players are also hoping to take what has hitherto been a niche industry to a scale that even 10 years ago would have been scoffed at.

For now the offerings are a bit of the mix. For around $1000 23andme will focus on genealogy and genetic traits, although disease associated SNPs will also be looked at. Navigenics on the other hand is making disease associated SNPs and matching them to current knowledge the focus of its consumer genotyping service. deCODEme will give you information about your ancestry, hereditary traits and disease-associated SNPs. I presume all will also include some form of genetic counseling to their offerings.

The killer play in all of these services is search. I want to try 23andme’s service just to take a good look at the genome explorer. The challenge; to make something complex and make it easy to use and intuitive. To provide sufficient information without ambiguity and complexity. I must admit to being fairly intrigued by the 23andme user interface and the marketing, which is definitely more web offering than biotech, as opposed to Navigenics’ more traditional biotech look and feel (although it’s definitely got a little web 2.0 in it as well). deCODEme is also very slick. So it’s clear that the companies understand that to attract and keep users the experience and how the information is provided is very important. I am getting visions of BLAST as a a consumer tool.

I have a few questions in my mind? What are the goals of these players in the long run? How do smaller shops fit into the consumer genomics ecosystem? When will next-gen sequencing start having an impact? What is the supply chain for such services going to look like? What does the VC community expect? What kind of exits are being pitched to them? Unlike previous genomics related booms (this is not a boom yet, but the coverage makes it sound like that), there is a direct consumer play here. In other words, the small bioinformatics/genomics shops are not at the whims of the pharma industry, always too small and risky a market, but a larger, consumer base that looks like it is ready.

There are the larger issues as well. Is my data portable? Can I take my information from 23andme to Navigenics? Can I import this information into a persnonalized health record? How does insurance play into this? What kind of privacy rules apply? Does HIPAA come into play? Will this trove of information be used for making medical advances? Can it? Should it?

Some might argue that genetic testing has been available for a while and all this is hype. Part of it definitely is hype. The attention given to 23andme in the tech blogosphere and indeed by magazines like Wired would have been a fraction of what it has been if not for Ann Wojcicki’s marital status and Google’s investment in the company. But this is different. The testing is not for a predetermined panel and can scale with our own knowledge. The availability of microarrays with a million SNPs on them, the HapMap project, the potential of next-gen sequencing and the power of the web in bringing all this information to everyone is a potentially explosive mix, where knowing your genetic code might one day become just a routine service that all of us sign up for and keep track off as scientific knowledge increases.

Should we be excited? Absolutely. Should we be cautious and have privacy concerns? We must.

At the very least, we have good blog material for a while.

Update: The Gene Sherpa raises some very relevant points about something that has always troubled me, especially in the context of personal health records.

Further Reading
New York Times
TechCrunch
Epidemix
ScienceRoll
Berci reviews personal genetics companies
A cautionary note

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Technorati Tags: 23andme, Navigenics, deCODEme, Personal Genetics