Richard Quake may never know for sure what killed his 19-year-old son, Richie, in 2008. But thanks to Stanford cardiologist Euan Ashley, MD, and the genome sequencing techniques developed by his cousin, bioengineering professor Steve Quake, PhD, he now has an idea.
Richie’s tragic story frames my article about the tangled web of genotyping, whole genome sequencing and ethics and medicine in the most recent issue of Stanford Medicine, which recently hit the stands. I won’t give it away here, except to say that I had tears in my eyes more than once while writing the story.
I spent months interviewing people and researching some of the issues on the forefront of personalized medicine, the theme of this issue of the magazine. And although the article has long since left my keyboard, I can’t seem to stop reading about what it means to have your whole genome sequenced – not just to you, but to your family members who share at least a portion of your genetic information.
A recent blog post on this topic by Daniel Vorhaus, JD, caught my attention. Vorhaus, an attorney who has written extensively on the intersection between genomics and law, had popped up frequently in my research and I spent quite a bit of time reading his posts at his blog, the Genomics Law Report. On a post at Genomes Unzipped, he tells a more personal story. Members of the Genomes Unzipped project have chosen to publicly share their genetic data to explore the uses and limitations of the information. But before Vorhaus could commit, he had to consult a separate group of people with a vested interest: his family. He writes:
While my genetic information is personal to me, it could also have something important to say about my family members. The strong likelihood was that it would not, particularly once you diluted the limited predictive value of most genetic markers with a hefty dose of uncertain utility and a large helping of additional uncertainty thanks to the fact that I share, on average, only 50% of my genome with each of my family members. But while I could calculate that risk as small, and accept it for myself, I could not unilaterally accept it on behalf of each member of my family.
What follows is a transcript of a lengthy e-mail Vorhaus sent to his immediate relatives to explain the implications of the information and to secure their blessing for his participation. It’s a fascinating glimpse of what can and can’t be learned by genotyping and whole genome sequencing and a preview of the kind of questions we might all be facing someday soon. I know that Richard Quake is thinking long and hard even now with whether and how to share information from Richie’s genome with his two surviving sisters. As I write in my article:
It’s a conundrum in so many ways. The sequence of your genome — all 6 billion nucleotide letters — is the most personal of personal information, encoding the very building blocks of what makes you you. The sheer power and wonder of what arises when that string of letters is steeped in a cell’s biological stew is staggering. And yet your genome is also inextricably bound with that of your mother and your father, your siblings and your children and even that of more distant relatives. How much right, if any, do we have to expose what others may not want known? And are any of us prepared for what we might learn?
Even now, I’m not sure.