Celebrating the fruits of the human genome sequence

Nicole Davis, February 9th, 2011
  • Image courtesy of Lauren Solomon, Broad Communications

This week’s issue of the journal Nature celebrates a milestone in the history of biomedical research: the publication of the first draft of the human genome sequence. Ten years ago this week, two papers, one in Nature and one in Science, together offered the first glimpse of the genetic instructions written within our DNA.

In celebration of this notable anniversary, Broad Institute Director Eric Lander explores the impact of the sequencing of the human genome, how it has dramatically accelerated research in a variety of areas, and also the challenges that lie ahead in realizing the promise of genomics for medicine. In the article, he contrasts the state of scientific knowledge at the turn of the century, in areas ranging from genome sequencing to human disease, with how that knowledge has been transformed in the decade since.

In a vivid illustration of the remarkable impact of the human genome sequence, particularly in cancer, Broad Institute researchers today announce the initial sequencing and analysis of the whole prostate cancer genome. The study, led by Broad associate member Levi Garraway and his colleague Mark Rubin at Weill Cornell Medical College — also published today in Nature — offers a panoramic view of the full genetic blueprints of multiple prostate tumors, revealing critical genes and a category of genomic changes that are likely to drive tumor growth. You can read more about the findings in a press release here and Broad news story here.

The work is noteworthy not just for what it reveals about the unique biology of prostate cancer, but also for the kind of patient-focused information it could eventually bring to bear on treatment. The disease is notoriously difficult to diagnose and treat, in part because doctors cannot easily distinguish which patients’ tumors are likely to advance quickly, thereby requiring immediate clinical action, and which are likely to remain slow-growing and may not even require treatment.

Indeed, the findings by Garraway and his colleagues are cause for optimism; however these are still early days. Further study in the laboratory is needed and then, the path forward to the clinic must be carefully navigated, a process that can take several years.

As Lander writes in his review, “We must be scrupulous not to promise the public a pharmacopeia of quick payoffs. At the same time, we should remain unabashed about the ultimate impact of genomic medicine, which will be to transform the health of our children and our children’s children.”