There is an unresolved tension that haunts nearly all research in human genetics today: freely shared resources are critical for science, but terrible for patient privacy.
In 1951, physicians at Johns Hopkins University biopsied the tumor of a young African-American woman named Henrietta Lacks, who was dying of cervical cancer. Cells from Lacks' tumor were grown in a Petri dish and passed from lab to lab, eventually playing starring roles in some of the biggest biomedical discoveries of the last 60 years. Despite this long history of research, the HeLa genome (the tumor cell line genome, not the normal genome of Henrietta Lacks) just became the most controversial genome ever published, because it was done without the prior consent of Henrietta Lacks or her family.
Henrietta Lacks' tumor cells have been so important in research because they were, and continue to be, freely shared. Because so many laboratories have them, thousands of researchers have cut their lab-teeth on these cells, like I did as a new graduate student. (I was told that the cells came from a cancer patient named Helen Lane.) The massive amount of HeLa data that is freely available in online databases is a major resource scientists turn to as they try to understand the results of their own experiments, and the newly released HeLa genome sequence will make it even easier to make sense of new data.
The HeLa genome can tell us about the biology of Henrietta Lacks, but it also has something to say about the descendants who share her genes.
But to the Lacks family, the HeLa genome sequence was a frontal assault on their privacy. From the very start, samples of Henrietta Lacks' tumor cells were shared without her knowledge or consent, a practice that was consistent with the legal and ethical standards of that time. Lacks' family was kept in the dark as well; two decades passed before the family learned of the existence of HeLa cells, and two more decades passed before the Lacks family finally started getting answers from scientists about Henrietta's cells were being used. While the family has taken pride in Henrietta's involuntary contribution to science, they were blindsided when a German research group publicly released a version of the HeLa genome.
After 60 years of research with HeLa cells, not to mention the publicity of a best-selling book about Henrietta Lacks, why is the Lacks family worried about the release of the HeLa genome? Their concern reflects the basic facts of genetics: The HeLa genome can tell us about the biology of Henrietta Lacks, but it also has something to say about the descendants who share her genes. And so this is not just a problem for the Lacks family; it's an issue faced by the relatives of anyone whose genome is used in research. With someone's genome sequence in hand, anyone with a little technical know-how can make inferences about the family on subjects that most of us would not like to see aired in public, such as someone's unexpected paternity or a risk for incurable diseases.
In response to the Lacks' privacy concerns, Francis Collins, director of the U.S. National Institutes of Health (NIH) met with the family to find a solution they would be satisfied with. As a result of that meeting, an NIH-funded version of the HeLa genome will be kept in a restricted database. Researchers can request access to the data by "a special review and approval process involving the HeLa Genome Data Access Working Group of the Advisory Committee to the Director."
The same policy applied to HeLa cells would have blunted their impact on decades of biomedical science. Scientists typically develop new ideas informally, with whatever resources are at hand, like the tumor cells that are already sitting in the freezer, or the genome data that's just a few clicks away in a Web browser. If getting access to the HeLa genome means taking the time to write out a justification for the Director's Advisory Committee, many scientists will try out their ideas on a different genome.
So is there a way to maximize both scientific effectiveness and privacy? Probably not, because genetic information is in many ways inherently non-private. Not only do you share your genes with your relatives; your identity can, in many cases, be deduced from your genome sequence with a little help from online databases. Like privacy on the Internet these days, genetic privacy is something that research volunteers are signing away as the cost of participation. But that cost is imposed on family members as well, raising the question of whether family members should have a say in what happens to your genome.
The NIH is still considering how to resolve this tension, but some privately funded groups, like the Personal Genome Project are forging ahead by only accepting research volunteers who are willing to put their medical history out before the general public. Genetic privacy, like Internet privacy, could soon be a concept that's obsolete.