JAMA Publishes Genetics Theme Issue

dnacaduceus.jpgThe latest indication that the medical establishment takes personalized medicine seriously — this week’s Journal of the American Medical Association is a special theme issue dedicated to genetics and genomics.

The journal points to the incredible pace of recent discoveries associating specific genetic markers to various diseases and conditions. It even adds a few new revelations to the mix, including:

  • a study that found certain variations of the stress-related gene FKBP5 increase the chances that a person who is abused as a child will later develop post-traumatic stress disorder.
  • the first evidence of a causal link between the gene PON1, the antioxidant activity of a substance known as paraoxanase and a person’s chances of having a severe heart attack.
  • a paper demonstrating that variations in the gene LRP5, which has previously been linked to osteoporosis, can affect bone density and risk of fracture.

More provocative is a commentary by National Human Genome Research Institute director Francis Collins and two colleagues that envisions a not-too-distant future (the year 2020) when doctors and patients will be able to tailor their health care to individualized genetic information.

The question is, how do we get from here to there? Even allowing for the incredible amount of progress that is being made, it will take an enormous amount of research to incorporate genetic information into medical practice — and even more to demonstrate that doing so is beneficial.

23andMe wants to be involved in that research effort. Though some (including the author of another commentary in the JAMA special issue) have argued it is too early to offer personal genetic information directly to the public, we believe our company can contribute to realizing the “2020 vision” advanced by Francis Collins and his co-authors.

In giving our customers access to their genetic information, 23andMe is helping to organize a group of motivated, educated people around the goal of achieving truly personalized medicine. And once we have enough customers we plan to enlist their help in research studies designed to find more associations between genes, disease and drug response — and to learn how people might benefit from having knowledge about their genomes.

It’s true that there isn’t enough evidence yet to justify taking medical action on the basis of genetic information, and we make that clear to our customers that they shouldn’t make health-related decisions based on what early research results might indicate. But if anything, that’s an argument for the existence of companies like 23andMe — by educating our customers and the general public about the potential value of genetic information, we can enlist their help in achieving the common vision of personalized medicine.

Image courtesy of U.S. Department of Energy Genome Programs (http://genomics.energy.gov)