Essays on Science and SocietyGenome-Sequencing Anniversary

What Will Drive Genomics Over the Next 10 Years?

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Science  11 Feb 2011:
Vol. 331, Issue 6018, pp. 691
DOI: 10.1126/science.1202481

When the announcement was made that teams led by Francis Collins and J. Craig Venter had jointly produced a rough map of the human genome, I was way in the back of a room crowded with a starry-eyed horde of media, NIH officials, representatives from the White House, and a variety of university and corporate scientists. I am fairly certain I was the only person at that press conference from the field of ethics. In the decade since the human genome map was published, efforts to apply that knowledge to human health have greatly and appropriately increased the presence of ethics in the world of human genomics.

Most thought that the ability to predict an individual's risk of developing diseases would drive the use of genomic information. That did not turn out to be so.

Efforts to move personalized risk-testing to the Internet and into pharmacies did quickly follow the publication of the map and the creation of better array-based technology. A variety of companies jumped on the “spitomics” bandwagon—encouraging individuals to spit in a cup in order to find out whether they were at risk for cancer, diabetes, and drug dependency; to gain insight into the identity of their forebears; or to find out if their kids were likely to have food allergies or become star athletes.

These activities met with little enthusiasm. The lack of standards about the accuracy and sensitivity of claims about genetic tests, the absence of serious efforts to ensure competent counseling, and indifference to simply having information about risk slowed the growth of interest in personal risk assessment.

Fear of repercussions has been an obstacle as well. Only in the past few years, with the enactment of the Genetic Information Nondiscrimination Act of 2008 and the Patient Protection and Affordable Care Act last year, has the requisite ethical and legal infrastructure for personal genetic risk analysis been created.

It is not the analysis of risk factors that shows the most immediate promise for human genomics but the application of genetic information to permit the safer and more efficacious use of drugs. Pharmacogenomics is poised to capture the promise of the discovery and publication of our genome. Cure, not diagnosis, is the value driving human genetics and is likely to do so into the future.

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