The Next Generation of Health is Genomics-driven Prevention

Steven Pinker has cardiac hypertrophy (or Ventricular Hypertrophy also known as althlete’s heart). On it’s own this is a wholly uninteresting fact to most people, it isn’t something you’d bring up in normal conversation, “Oh, hey did you know that the esteemed cognitive scientist Steven Pinker has athlete’s heart?”

What makes this revelation remarkable is the fact that he learned this via the Personal Genome Project and that you can watch him finding out about the diagnosis (at 0:40). The initial PGP-10 took a risk when they decided to publish “anonymized” health data and gene sequences as part of this research, they must have all known that everyone in that group of 10 was guaranteed to lose any notion of health privacy, but they’ve taken this bold step to help usher in an era of scientific and medical research that will revolutionize the way we all approach health.

In the same way that individuals like Pinker and Brin learn of genetic predisposition to serious illness, many millions of Americans will learn of similar markers over the next decade. The cost of sequencing a human genome is dropping at a factor of 10x per year, at a current cost of anywhere between $25k and $100k depending on what technology you use. In about two years, the cost of sequencing your entire genome will be on par with the cost of a simple medical test, and that’s when the discussion about health care is going to get interesting.

When the cost of sequencing a human’s DNA is on par with the cost of a simple blood test, it is going to be difficult to justify not performing this routine “test”. We’re going to have to have real discussions about the meaning of privacy and ownership (Who owns your sequence?) and we’re going to have to answer some fairly unexpected ethical questions. The most important questions we’re going to have to answer in the next two years:

  • What would you do with millions of individual sequences?
  • Once you’ve realize what the benefits of aggregate sequencing are, does the individual’s “ownership” of individual DNA sequence data outweigh the benefit to society as a whole?
  • How will knowledge of genetic predisposition affect the individual in a society that is currently focused on the cost of health care?

It’ll be interesting, but the one thing to keep in mind is something that Wally Gilbert told me at last year’s Scifoo. After having watched some of the discussions between Dr. Fire and Dr. Church, I wanted to get Gilbert’s take on the emerging ethical questions of sequencing. His first reaction was to mention the controversy that accompanied his initial success at sequencing, but he cautioned that the general perception of DNA as “predestiny” is not at all accurate. Just because someone has a marker for a serious disease does not at all mean that they will develop the disease.

This is a concept that society will have to grok quickly, because Science is moving faster than most realize.