Going Public with Private Info
Benefits of sharing health information on the web
I recently attended a talk on the “Importance of the Case Study.” In the world of medical research where large sample sizes and replication studies reign, the speaker, a geneticist, challenged the audience to remember the importance of the single anomalous patient. He described a large filing cabinet full of his undiagnosed cases sitting in his office. It is imperative, he argued, that geneticists revisit these cases every few years for the sake of the patients, parents and the advancement of medicine.
As I listened, I pictured thousands of dusty filing cabinets sitting idle in medical buildings across the world; the files of patients with syndromes of unknown genetic etiology trapped inside. Surely there must be some way to “store” these cases virtually? Enter MyDaughtersDNA.org. As creator Dr. Hugh Rienhoff describes:
The inspiration for this site comes from the unusual coincidence that I was trained as a clinical geneticist and I have a daughter with an unknown genetic syndrome. Were I not a physician trained as a geneticist, it is likely my daughter’s condition would be lumped together with other patients in a category of heterogeneous but similar clinical conditions…It takes the trained eye to spot the uniqueness of a case, sometimes a lucky scientific insight, or simply the tincture of time for science to catch up with the human condition. In all cases, the question at hand — what does she have — has to be asked and re-asked and that is best done of everyone. This site allows that open question to hang out in the public begging unapologetically for an answer.
This article in Wired chronicles Rienhoff’s story in detail.
There has been a lot of talk lately about the benefits of public thinking for personal health issues. In my opinion, MyDaughtersDNA.org is an excellent example of the benefits of an open-source approach to healthcare, and genetics in particular. While I recognize that there are some important ethical and logistical issues with this type of website (of which I hope to discuss another time), I am encouraged by the spirit of collaboration and empowerment that it represents.
