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October 14, 2010

The emerging availability of affordable "next generation" whole exome- and whole genome sequencing (WES and WGS, respectively), has prompted questions about whether there are ethically-relevant distinctions between "traditional" targeted genetic research (e.g., candidate gene approaches) and WES/WGS research; and, if so, what implications this will have for human subject protections.  While WES/WGS does not raise novel ethical concerns, the issues associated with traditional genetic research will be amplified by the sheer magnitude of information generated by WES/WGS.  Ethical concerns that had been rare or theoretical are now becoming more prevalent and more complex, particularly related to return of incidental findings, which are much more likely to be identified; informed consent; and privacy.

Starting in late 2009, the NHGRI IRP began seeing a marked increase in the number of research protocols that proposed to utilize WES/WGS technology, with considerable variability in the way that the proposed research anticipated and addressed these emerging ethical issues.  We are aware that investigators in other ICs have begun to utilize this technology as well.  Because of the diversity of research that will propose to incorporate next generation sequencing, different approaches are indicated for different protocols.  Generally, however, we believe that the significant differences between traditional genetic research and WES/WGS require a consistent baseline level of ethical review to ensure that investigators have adequately considered the novel aspects of their proposed WES/WGS research. 

The NHGRI Bioethics Core has developed a draft document, Points to Consider in the Transition Toward Whole-Genome Sequencing in Human Subjects Research that we hope will be useful for both investigators and IRBs.