Genome sequencing steps closer to routine practice By MITCHEL L. ZOLER, Cardiology News Digital Network 03/06/14
The long-awaited age of genomic medicine drew a step closer this week when physicians and officials at the University of California, San Diego, announced collaboration with a new genomics company to sequence the entire genome of as many as 40,000 consenting patients a year starting this year. The project will entail rapid scale-up to 100,000 genomes sequenced a year and correlating this genome information with the state and outcomes of actual patients treated at UCSD and at other medical centers that eventually join the collaboration.
While the plan envisions enrolling patients with a variety of disorders, the first enrollees will be patients treated at UCSD’s Moores Cancer Center. The project will entail rapid scale-up to 100,000 genomes sequenced a year and correlating this genome information with the state and outcomes of actual patients treated at UCSD and at other medical centers that eventually join the collaboration. Although a research project, the planned study means that many of the cancer patients seen at UCSD will, if they agree, have their full genome sequenced as part of routine management. At first that information will be useless for most patients, so in that sense this remains all within the realm of research and not standard care (although with what’s already known about cancer-driver mutations and targeted therapies, the results may provide immediate benefits to many patients). But this project marks a milestone in the integration of genomics into medicine in that sequencing will be offered to patients as part of their routine care. Not surprisingly one of the principals on the business and big-picture side of this venture is J. Craig Venter, Ph.D., the genome-sequencing pioneer who in the 1990s spearheaded a race with the U.S.-funded Human Genome Project to be the first to sequence a full human genome, a competition that morphed into a collaboration during the final years before completion of the first full human sequence in 2003. The National Institutes of Health estimated it cost about $2.7 billion for the more-than-decade-long effort. Last year, Dr. Venter and two associates started a company, Human Longevity Inc., the business and technical partner to UCSD for this new, clinically based sequencing venture. The technical and commercial breakthrough that made this week’s announcement possible came less than 2 months ago, when in mid-January Illumina announced marketing of machinery capable of sequencing a full human genome for less that $1,000 in total costs, at a rate of about 200 full sequences every 24 hours. In its announcement this week, Human Longevity said that it purchased two of these sequencing combines. Exactly what will come from crunching the full sequences of tens of thousands of patients against their clinical presentations and treatment outcomes is anyone’s guess. Whatever results, it promises to be interesting, as well as still several years away. This week and this year, the focus instead is on these concrete and immediate developments: The dawn of affordable, easily available full-genome sequencing that makes a patient’s complete genetic makeup routinely obtainable, and the start of what has been medicine’s genomic dream for decades, using that information in routine practice. mzoler@frontlinemedcom.com On Twitter @mitchelzoler |
We are on a march to discover more fundamental causes of many human ailments.
We should be so proud of all the good people, geniuses, in medical sciences.
I hope our young generations of Korea play a significant role in this exciting march in genomics.