What rules should govern the participation of children in large-scale genomic biobanking research? That’s the question that David Gurwitz, Isabel Fortier, Jeantine E. Lunshof and Bartha Maria Knoppers tackle in a policy forum piece in the current issue of Science.
The Importance of Open Consent
In considering the use of DNA samples and phenotypic data provided by children to biobanks, Gurwitz et al. argue that the traditional notion of confidentiality or anonymity, at least when it comes to genomic data, is an illusory one:
DNA remains unique as a permanent identifier throughout an individual’s life… As sequencing of entire genomes becomes a routine procedure, DNA donors’ privacy can never be completely ensured within biobanks. Individuals can be traced even in very large aggregate data sets spanning thousands of donors. As a consequence, there is no ‘opting out’ from biobanks once DNA sequences have been published and deposited with public databases.
Along with one of the co-authors of the Science piece (Lunshof), I’ve written previously about the inability to promise privacy in the genomic context (pdf). That premise, coupled with the determination that informed consent requires open and complete disclosure of the risks of participation in genomics research, has served as the basis for of the Personal Genome Project’s (PGP) informed consent protocol (pdf):
If you are enrolled in the PGP, your genetic and trait information will not be maintained or made available in a confidential or anonymous fashion. Your genetic and trait information will be made available via a publicly accessible website and database….
But the PGP’s “open consent” model, which works in the case of adults, who are capable of providing informed consent to serve as “health information altruists,” does not work for children. Very simply, children are unable to provide informed consent at the time of participation.
For population biobanks (which the authors treat separately from disease-specific pediatric research), Gurwitz et al. propose a regime of tightly controlled access to the DNA samples and data supplied by children, at least “until donors are recontacted as adults and give their own informed consent.” They propose policies that would “minimize the risks of revealing children’s identifying genetic data, thus protecting their privacy, while still allowing the advancement of pediatric research.”
While this is a laudable goal—protect privacy while still allowing pediatric biobanks and research to thrive—it is an impossible one, for the very reasons that Gurwitz et al. pointed out only a few paragraphs before. “DNA donors’ privacy can never be completely ensured within biobanks.” Despite the robust privacy apparatus proposed by Gurwitz et al.—which includes restricted access by third parties, publication of aggregate instead of specific data, and procedures for re-consent upon adulthood—sharing genomic data will always subject participants to both known and unknown risks, including re-identification, as demonstrated by the NHGRI’s recent experience with publicly available dbGaP data.
To their considerable credit, Gurwitz et al. admit that “there are no perfect solutions.” What they propose, ultimately, looks something like this:
- We recognize that genomic privacy can never be fully ensured in the biobank setting.
- Although with adults this risk may be addressed via a robust informed consent process, children are incapable of providing informed consent, at least until they reach adulthood.
- However, pediatric biobanking research is of crucial importance to scientific research and cannot be prohibited entirely.
- Therefore, we will protect privacy as best we can—realizing that this protection will be necessarily imperfect—and determine that the remaining risk to children is outweighed by the benefits that accrue to scientific research and to society at large.
Although this is a chain of reasoning that, ultimately, I agree with, the importance of the issue necessitates that the policy be made more explicit than Gurwitz et al. manage (although, in their defense, they were given a scant two pages to make their case).
Not made explicit enough is which party will weigh the benefits of submitting a child’s genotypic and phenotypic data to a biobanks against the risks imposed by the possibility of a breach of privacy. Although researchers may view the risks of re-identification as overwhelmingly outweighed by the benefits, in the absence of the child’s ability to provide his or her own consent the decision must fall to the parents of that child, and not to the researchers. Whether with children or adults, the solution remains complete openness and transparency as to the nature of those privacy risks, thereby satisfying the principles of veracity and voluntariness that underlie truly informed consent.
Research vs. Medical Use of Pediatric Genomic Data
Mark Henderson, the Science Editor of the Times, has responded to Gurwitz et al. with an excellent commentary of his own in which he concludes that “as and when knowledge of a person’s genome sequence has clear medical benefits, it would be wrong to deny these to children purely because they cannot consent to access their DNA data.” Henderson’s point is an important one, but it risks confusing two distinct issues. Whether or not it is appropriate to use the DNA of children for research purposes has no bearing on whether or not the same DNA could and should be used for medical purposes.
It is non-controversial for parents and doctors to collaborate to make medical decisions that they conclude are in the best interest of a child, quite often in the face of the child’s vociferous dissent (as The Onion humorously notes, the majority of children are opposed to children’s healthcare). But a doctor’s examination of a child’s DNA for an identified medical purpose—even if it is then stored in the child’s medical record (which, as I discussed earlier, may not be a foregone conclusion)—is a far different proposition from submitting the same DNA to a biobank for use by the scientific research community.
DTC Pediatric Genomic Research
Gurwitz et al. hint briefly at what may be a coming paradigm shift in genomic research: the development of for-profit, direct-to-consumer (DTC) genomics companies as legitimate and important sources of genomic research. Gurwitz et al. write that “apart from biobanks, some direct-to-consumer personal genomics providers…are already analyzing children’s DNA samples, creating another avenue by which personal privacy might be compromised.”
I covered this topic last month (see “Genomic Research Goes DTC”), and the fundamental point remains the same: most, if not all, of the human subject protections that apply to genomic research, including in the case of children, are unlikely to cover much of the activity undertaken by the DTC industry. While it’s possible that companies such as 23andMe—which appears to be leading the DTC genomic research race—can self-regulate effectively, in order for any changes to the current practices of pediatric genomic research to apply to DTC genomics companies, it is likely that considerable structural changes would be required to the system of human subjects research protections generally, which would be a decidedly non-trivial task. But as Gurwitz et al. write in conclusion, “the long-term benefits of maintaining public trust in biomedical research” may “justify extra governance efforts and added costs.”