An article in a recent issue of the journal Nature by a Danish-led international research team reported genomic sequencing of 4,000 year old permafrost-preserved human hair tufts from a man who belonged to the Arctic Saqqaq culture. The authors obtained remarkable information about the genetic constitution of Inuk – as he was named by the researchers, from the Inuit word for “person” – that provided insights into the genetic and migratory history of circumpolar populations.
The geneticist in me was fascinated by this paper. The authors suggest that the samples may have been the clipped hair that fell during a haircut. They calculated an admittedly speculative inbreeding co-efficient of 0.06, compatible with several ancestry scenarios, one of which is a first cousin mating. More than 300,000 SNPs provided information about his phenotypic traits such as hair color and earwax type but also susceptibility to diabetes, obesity, hypertension, Alzheimer disease, nicotine dependence, parkinsonism, and alcoholism. It’s the kind of research that makes you say “Gee whiz, it’s amazing what scientists can do.”
And then the nagging voice of my internal genetic counselor began pestering me with the questions “Do we have a right to know about this man’s genetic disease susceptibility? When does science trump a person’s right to privacy?”
I appreciate the scientific value of this information. There is no reason to believe that Inuk’s genetic information could be directly linked to his descendants. Thus, no living person experienced psychological harm or a violation of privacy. One might even argue – with some Western hubris – that this research enhanced Inuk’s dignity since it contributed to our understanding of his people and culture.
On the other hand, we have clear-cut social and legal restrictions on privacy of medical information about living people. Some of what we learned about Inuk, such as his hair color or tooth shape, would have been obvious to his contemporaries and therefore does not compromise his privacy. However, Inuk’s genetic susceptibility to various diseases would not have been known by his coevals. Where do we draw the privacy line for deceased individuals? Every culture has its taboos – what kind of personal information was considered privileged and confidential in Saqqaq culture?
It’s one thing when Beethoven asked his physician to study his body after death and to share the knowledge of his illness with the world or when the great English chemist John Dalton willed his color-blind eyes to science to advance the scientific understanding of deuteranopia. But would we have second thoughts about sharing the genetic disease susceptibilities of historically important people who may not have given such permission, like George Washington, Mark Twain, or Winston Churchill? What about celebrities like Michael Jackson? Is Inuk’s private information publicly available because of his anonymity or, more uncomfortably, because he was a member of a non-Western extinct culture?
The paper compared Inuk’s results with the DNA of Craig Venter and James Watson, but the latter two have intentionally made their genetic information widely available. Are DNA studies of the dead any different than studying disinterred bones for clues to disease and biology? How do scientists distinguish themselves from resurrectionists and distance their practice from cranioklepty? Is studying the DNA of the dead the scientific equivalent of sacra furta (the theft of saintly relics that was unofficially condoned by the Medieval Catholic Church)? How do we balance human dignity with the quest for scientific knowledge?
Should we allow public reporting of aggregate data on populations but only allow researchers with a legitimate scientific interest access to private information on a specific individual? Or are we contributing to the mythological aura surrounding DNA by insisting that genetic information is somehow more special and privileged than any other information about a person? After all, we live in a world shark-frenzied for intimate details about the sexual and personal lives of celebrities. DNA sequencing seems almost harmless in comparison.
I know, I know. I’ve posed many questions and no answers. But I am having a hard time answering them, so I am interested in what you think.