Updated at 10:52 AM, August 28th, 2013
If you've got $9,000 handy and a hankering to learn more about your genetic roadmap, here's your chance.
Partners Healthcare, the largest hospital system in Massachusetts, announced yesterday that complete genomic sequencing is now available to patients. The full test would take 16 weeks, said spokesman Rich Copp, and insurance coverage would be determined on a case by case basis.
Formerly a technique limited to the laboratory, complete genome sequencing maps the 3 billion pairs of DNA in a human's genome. In recent years, scientific and technical advances have made genetic sequencing available for clinical use.
That's a far cry from 2006, when scientists were still diagnosing a "market failure" in providing "rapid, low-cost medical grade genomes." It was enough to spur the creation of the Archon Genomics X-Prize, which promised a $10 million prize to a team that could sequence 100 genomes in 30 days for less than $10,000 per genome. The X-Prize team ultimately called off the competition, citing commercial interests making the prize incentive superfluous:
What we realized is that genome sequencing technology is plummeting in cost and increasing in speed independent of our competition. Today, companies can do this for less than $5,000 per genome, in a few days or less - and are moving quickly towards the goals we set for the prize. - Peter Diamandis, chairman of X-Prize Committee
But where, exactly, will your new $9,000 map lead you? Shortly after he was diagnosed with cancer, Steve Jobs spent $100,000 on getting his genome completely sequenced.
Doctors used the gene sequence to specifically target the abnormal pathways that allowed Jobs' cancer to flourish, but as biographer Walter Isaacson noted, it was not "a silver bullet."
Another family profiled on August 25 by the Boston Globe discovered for themselves the power and limitations of genetic sequencing. Four of the Nadeau family's ten children experienced hearing loss, and the sequencing allowed them to identify the root problem: a deletion of four genes. However, the limited information researchers know about the human genome means that the Nadeaus gained no clues about how the hearing loss might progress, or ways to potentially repair their hearing.
As genomic testing becomes more widely available, we'll undoubtedly see the information used in more varied and creative ways. A recent Forbes article speculated on the future of sequencing baby genomes while they're still in their mothers' wombs. We already test for disorders such as Down Syndrome but this deeper level of genetic testing raises more and more ethical issues. How do we respond to bad news that has yet to unfold? How much are we meant to know?
Readers, are you going to run out and get your genome sequenced? Or in this case, is ignorance bliss?
This program aired on August 27, 2013. The audio for this program is not available.