Clinical Genomics

The goal from my perspective would be, synthesis of the entire human genome on each of my patients with a realtime, ongoing statistical correlation between his or her genome and that person's ongoing experience with the environment, disease and longevity, known correlations with disease as well, but those existing correlations cannot be trusted due to the distorted data from insurance claims and the attempts to match individuals to a population at large. 

Legislators in their ignorance or vested interest stipulate that medical records may be destroyed after seven years or less, in some cases three. Administrators too are anxious to rid themselves of the burden of data collection and storage for both financial reasons and the burden of liability. What you can not prove is hardly actionable. A single clinician over the course of his or her professional lifetime collects some 30,000 to 50,000 clinical records, a group of physicians in a group practice obviously many more. Furthermore, groups perpetuate long beyond the life of the origional physicians creating a vast and priceless database of credible clinical information relating closely to the individual and a narrow geographic location. By contrast, massive clinical data thus far comes from customer questioners, such as from 23 and Me,  or insurance data which is so distorted as to be near meaningless.

The advancement and benefit to patient care as well as a quantum leap forward in our understanding of the causes of disease seems obvious. The rapid, affordable, access to the whole human genome makes up the other side of the above equation. So far that has been only a dream frustrated by  beaurocracy, inertia and a steep learning curve. Competition, Silicon Valley and inventiveness, however, work miracles. Unfortunately, free enterprise, the very driver of innovation, now threatens the access and developement of an affordable, rapid whole human genome device. Ilumina is suing Oxford Genomics, once a strategic partner, over patents to a promising nanopor technology, a sad developement that may significantly delay the dream. Fortunately, there are other competors knocking at the door. Hopefully, Moore's Law will prevail.

"The Oxford machines will be configured as scalable computer clusters, so that new ‘nodes’ can be added to them, so that users can customize the machines. The initial system will feature [a] nodes containing 2,000 nanopores that can read DNA at a rate of hundreds of kilobases per second, the company said. Next year, the company will begin selling nodes containing 8,000 nanopores; 20 of these combined would theoretically be able to sequence an entire human genome in 15 minutes, says Gordon Sanghera, Oxford’s chief executive." From Nature Feb 25  Erika Check Hayden