Capitol Hill, Health IT, and a movie

Yesterday 23andMe co-founder Linda Avey and I spent a muggy day on Capitol Hill, meeting with the staff of various senators and representatives, and thanking them for passing the Genetic Information Non-Discrimination Act (GINA). Most of them had never heard of 23andMe, so we took the time to explain what we do. We also emphasized that GINA will open the doors for consumers to become more involved in their own genetics, by ensuring that genetic data can’t be used to deny people insurance or jobs.

We also met Grant Wood of Intermountain Healthcare, based in Salt Lake City, Utah. From his point of view as a health IT strategist, GINA’s protections make it easier for genetic data to be integrated with electronic health records (EHRs), which Intermountain maintains for about 55% of Utah’s residents. Intermountain Healthcare recently won a grant from Microsoft to develop tools for adding family health history to Microsoft HealthVault. We talked about how useful it would be to add data from genome-wide scans to EHRs, which include a wide range of clinical data in addition to family history. Patients and clinicians would benefit from knowing the genetic component of risk, and researchers could perform genetic association studies against a much larger range of phenotype data than has been studied before.

The day ended with a screening of the deeply moving documentary In the Family. The film centers on Joanna Rudnick, who wrote, produced, and directed the film. Learning of her family history of breast and ovarian cancer, she gets tested for mutations in BRCA1 and BRCA2, and tests positive for a mutation that gives an estimated 80-90% lifetime risk of breast cancer and a 40-60% lifetime risk of ovarian cancer. (23andMe does not provide information on breast cancer mutations in the BRCA1 or BRCA2 genes.)

During her journey, Rudnick interviews a number of very brave women to see how they deal with their own discovery that they carry a potentially lethal genetic payload: whether and when to have ovaries or breasts removed, how to share information with relatives, the guilt of “passing on” a mutated gene.

Rudnick not only captures her emotions and the effect of what she learns on her relationship with her significant other and her family, but brings several other dimensions into the discussion on genetic testing. We see how a teenage girl reacts to the possibility that she might also carry a BRCA1 mutation. We also see how men—who can also get breast cancer, but more importantly can pass BRCA1/2 mutations to their daughters—confront their genotypes (over pints of beer, of course).

I was particularly struck by Rudnick’s exploration of the attitude of some African Americans toward testing and participation in clinical research. Historical memory of the Tuskegee experiments and racial discrimination in general has led some African Americans to be suspicious of researchers’ intents. Poverty, which disproportionately affects African Americans, also has an effect on whether one wants to get tested. To paraphrase one astute woman: “Enough stuff already happens to black people. Black people don’t go looking for more stuff.”

In the Family will come to PBS on P.O.V. on October 1, 2008. I highly recommend it.