Some barriers are beyond the reach of patients and family groups, and other stakeholders will need to step up, said Kozel. For example, the expense of well-run biobanks is too large for small family groups to support. Funding organizations could consider establishing central biobanks for rare diseases. When samples are limited, the provision of downstream data, such as sequence or expression data, may be preferable to storing and distributing samples. Journals can continue to require such genomic data to be deposited in protected but accessible sites online. They also could consider mechanisms to connect authors of underpowered research instead of allowing publication of lower-powered studies that can later be reexamined by meta-analysis. “It doesn’t serve our rare disease community or science itself for all of this data to be sitting in people’s drawers,” Kozel concluded. But the acquisition of large numbers of rare samples will require coordinated efforts among multiple groups, and changes in practice will likely be needed from all stakeholders.

Public-Driven Sharing of Clinical Research Data

Clinical research data, said John Wilbanks, director of Sage Bionetworks, is more than the information historically contained in folders at a physician’s office. Those folders, which have now been reproduced in electronic medical records, contain only the information generated during episodic trips to the doctor. New technologies, biomedical as well as ubiquitous sensors such as cell phones and computers, now enable people to collect longitudinal data on their health and other aspects of their lives, regardless of whether they are in a traditional clinical research study.

A week before the workshop, Wilbanks got his genotype from the company 23andme and posted it on openSNP, which is a wiki based in Europe created by a postdoctoral fellow to enable genomics research. Within 2 days he got an e-mail from another wiki called SNPedia with an annotation of his genotype, which indicated that he had a genetic variant conferring an increased risk of hypertension, along with another variant that seems to prevent baldness. This is happening “outside of any sort of regulated direct-to-consumer system,” said Wilbanks. Although he would prefer that he got this kind of information from health care providers who have the training and resources to substantiate the information they provide, “I’m not getting this service from the health system as an individual and my capacity as an individual to generate data about myself is exploding,”

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