The Biggest Little Study

I finished putting together a presentation for the 2011 American College of Medical Genetics Annual Meeting and reviewing some interview notes, both about some work we called the "Recontact Study." They'll probably be the finishing touches on the biggest little study I'll ever work on.

Here's the short story of what we did: some melanoma patients donated DNA back in the early 2000s to help identify genes for the disease. Usually, that's the end of the story for patients, and if researchers use the DNA to discover a mutation, it doesn't really matter for you because you're not going to hear about it. Is that ethical? There's a lot of debate on the issue, but little of it is based on any real data. Key questions that hadn't been addressed include whether people even want this information, how they respond to disclosure, and what burdens does disclosure put on researchers. We developed a pilot disclosure protocol and tried to address those very questions and more.

In a nutshell, people wanted the information, they responded very well to disclosure, and it was expensive and time-consuming for the research team (big caveat: because of the unknowns, we erred on being 'safe'). If you're interested, you can read peer-reviewed articles about our study here and here. What's shocking to me is that we squeezed two publications, a couple conference presentations, and some press coverage out of a study that ultimately only included 19 people.

Trust me, I'm not apologizing for the study at all. It was two year's worth of work on my end alone, and I wasn't the one who provided the genetic counseling. There are a lot of studies out there that enroll lots of participants and end up with no publications in the end. That's science (even social science!): you try things out and oftentimes they fizzle. And if they fizzle, nobody's going to want to hear your story unless you're writing about something people care about. Fortunately, we had the opposite scenario - we got good data about a subject people care about (two subjects really: melanoma genetic testing and disclosure of individual research results).

Which finally brings me to the point of this posting: what should an academic study? Stuff you care about, or stuff other people care about? Professors always tell their students to focus on the former, but it's a recipe for career dissatisfaction for people like me who want their work to be important. Am I the only one yawning when someone starts into a presentation about how physicians can improve care by using more personal pronouns? Don't we have 50 million Americans who don't even have health insurance? I realize one shouldn't always cater to the flavor-of-the-day topic, but the vehemence of many academics' beliefs that they should be funded to study whatever's on their minds constantly surprises me and is one of the reasons I think that academia suffers from a critical lack of self awareness.