Tuesday, September 4, 2007

Ethical Implications of Venter's Vanity Genome

Today marked the publication in PLoS Biology of the first "vanity genome," that of J. Craig Venter.

My former colleague from TIGR (Venter's former research institute, now defunct), Steven Salzberg, recently posted a commentary on whether this really represents science that should be published in a peer-reviewed a journal. I posted a commentary on Salzberg's post, but felt motivated enough to let my thoughts stand here on their own.

I too had an opportunity to read the manuscript prior to release and I had serious questions about the judgment of the editors of PLoS Biology and the referees who approved its publication. Like Steven Salzberg, I find little of scientific value in the work. And while one can raise a whole host of issues related to the science - or lack thereof - as well as to the motivation for doing this work, I have another, more serious concern.

Any federally funded study requires protections be put in place to safeguard patient confidentiality and so that private genetic information cannot be linked back to them - in large part because this could have a negative impact on them in many different ways. All institutional review boards (IRBs) require the use of anonymized samples for this reason and most go so far as to require that even such seemingly benign information as zip (postal) codes are stripped from sample records prior to analysis and certainly prior to publication.

Here, we know not only the identity of the person being analyzed but we know he as a son and three siblings. Now simple genetics tells us that these first-degree relatives share half of Craig's genome sequence and their identities are little more than a Google search away.

Certainly, Craig Venter had no objections to having his sequence published, but no mention is made in the manuscript about how the ethical issues associated with this work were handled. Were his relatives given the opportunity to consent? Were they informed? Was their protection considered? There is nothing in the manuscript to suggest that these issues were addressed.

There is a brief mention that there was an annual Ethical Review, but one has to question the judgment - and independence - of the group that was given this task.

While human subjects protection rules may not apply to privately-funded vanity research, one would expect the publishers - and the referees - to have held this work to a higher standard and to consider their responsibility to protect human subjects. Sadly, it seems they have not.

1 comment:

Steven Salzberg said...

I concur with your point abou the independence of the IRB (Institutional Review Board). This point is probably invisible to outsiders, but some of us who formerly worked at TIGR know that the internal IRB was not independent of Craig, since they all worked for him. Thus when presented with a protocol concerning one of Craig's projects, they had little choice but to approve it (if they wanted to keep their jobs).

Now, perhaps the Venter genome project would pass a proper IRB review, but IRBs at Universities (such as mine and yours) are independent of the investigators - no one on the IRB works for the investigator - as they should be. So regardless of whether it would pass review or not, I think you are right to point out that no proper IRB has looked at this study.