Show me your genome, and I’ll show you mine! Only 10 years ago, the complete sequencing of all 6 billion+base pairs of the human genome was announced. Back then, it would have cost a cool $100 million to have your genome unraveled. Now, the price is expected to crash down to $1,000 per person, hitting that sweet spot to trigger mass sequencing of your genome and mine. About 30,000 people are expected to have their DNA sequenced by this year.
• Will this help diagnose and predict disease better than ever? In the case of syndromic diseases, yes! Rare, genetic disorders caused by a single mutation could be detected and treated as in the heartwarming success story of a 6 yr old Wisconsin boy who became a candidate for an umbilical cord blood transplant after whole genome sequencing discovered the genetic cause of his mysterious and life threatening intestinal disorder. More common, complex illnesses (hypertension, autism) have susceptibility variations all over the genome. We will need an army of biostatisticians and geneticists to make sense of these.
• Genetic exceptionalism? Companies that offer direct-to-consumer genetic tests, like 23andMe , have received warning letters that “the analytical or clinical validity of their tests have not been submitted to FDA for clearance or approval.. Consumers may make medical decisions in reliance on this [genetic] information”. But in the absence of other guidance from the FDA, these companies have been left in limbo, leaving open the possibility that the industry may simply move overseas. Alan Dow, vice president and legal counsel at Complete Genomics, suggests that the foot dragging may be due to old ideas of genetic exceptionalism, that is “genetic information is inherently unique and should be treated differently in law than other forms of personal or medical information”. Yet, legal and medical scholars do not seem to have a problem with this.
• What will you or your doctor or your insurer do with this information? Two thoughtful articles in Slate’s Future Tense section:
Edit: Recommend this informative and entertaining 10 min TED talk : http://www.ted.com/talks/richard_resnick_welcome_to_the_genomic_revolution.html