25 May 2012
Amy Gutmann, PhD
Chair, The Presidential Commission for the Study of Bioethical Issues
1425 New York Avenue NW
Washington, DC 20005
Re: Comments on the ethical issues raised by the ready availability of large-scale human genome sequence data, with regard to privacy and data access and the balancing of individual and societal interests
Dear Dr. Gutmann:
Thank you for guiding The Presidential Commission for the Study of Bioethical Issues’ consideration of the ethical issues raised by the ready availability of large-scale human genome sequence data. That the Commission is willing to take up such an acutely important issue and in doing so to hear testimony from citizens outside of the ossified academic bioethics community (e.g., Genomera CEO Greg Biggers) gives me hope.
My message is a simple one and it echoes closely the one conveyed by two notable patient activists. Genetic Alliance President and CEO Sharon Terry has launched a campaign called “That’s My Data!” (I might have said, “Those Are My Data!,” but no one asked for my grammatical input). And “terminal” cancer patient Dave deBronkart (aka “e-Patient Dave”) has, in no uncertain terms, demanded: “Gimme my damn data!”
Whether Terry and deBronkart are talking about controlling access to their own biospecimens, genomic research data derived from those biospecimens, secondary findings of clinical import, secondary findings of no apparent clinical import, or even raw sequence data, is not necessarily clear to me. But I would argue that neither does it matter: they are entitled to do any and all of the above. Those samples and that information were derived from them and whether the setting was a research laboratory, a clinical laboratory or a garage is mostly beside the point. If anyone “owns” that information and those tissues, it is the people from whom it came. Not only have they subsidized the genomic research that has made such sample and data collection possible, but they have given of their time, consented to risk, and placed their faith in a research enterprise that, with few exceptions, cannot make ingenuous promises of health benefits other than in some vague “future.” Meanwhile in the clinical setting, at this moment laboratories are charging thousands of dollars for exome sequencing and in many (most? all?) cases not granting patients (or their physicians) access to their entire exomes. This “ostrich paradigm” is neither just nor sustainable.
The most salient counterargument, of course, is that granting patients and research participants unfettered access to their samples and data/results will pose too great a burden on researchers and clinicians. I am not naïve: what I propose will not be easy. It will require years, a wholesale change in culture, and a discrete break with our longstanding American tradition of genetic determinism.
But the status quo has already been shown to be untenable. We know from multiple studies that DNA is inherently identifiable, yet the present Common Rule/HIPAA-based system presumes to share de-identified data with everyone except the patients and participants themselves (I see this in IRB meetings every month). Is it not impossible to frame such an approach as one that maximizes participant/patient autonomy?
Embedded in the PCSBI’s request for comment on the widespread availability of DNA sequence data is a fallacious assumption: that individual and societal interests must be “balanced.” I don’t think one needs to be a fire-breathing libertarian to contend that, at some level, individual interests are societal interests. Consider amniocentesis. As recounted by Ruth Schwartz Cowan in her book Heredity and Hope, amniocentesis was not routinely offered to pregnant women over the age of 35 until such women who were not offered amniocentesis and subsequently gave birth to babies with severe anomalies began to sue doctors and hospitals. It is not hard to imagine a lab or investigator being similarly targeted for litigation after choosing to withhold DNA sequence information from a patient or research participant who goes on to develop a serious genetic disease that full disclosure might have mitigated.
The reality is that the cost and technical barriers to generating sequence data have fallen to the point where large societal institutions—research universities, clinical laboratories and commercial firms—can no longer keep such data and knowledge enclosed. There is a reason that entities like the Personal Genome Project and PatientsLikeMe that collect biological data without guarantees of privacy and confidentiality—but with unprecedented participant access and involvement—have grown exponentially over the last five years.
I hope the Commission will acknowledge such realities as it confronts the postgenomic world. I thank you for your consideration.
Misha Angrist, PhD, MFA