Gatekeepers and Goalposts: The Need for a New Regulatory Paradigm for Whole Genome Sequence Results

Woodage, Trevor | October 1, 2012

The ability to obtain a person’s whole genome sequence for a cost of one thousand dollars is nearly here. Many clinicians expect that this will usher in an era of personalized medicine by allowing the development of individualized disease-risk profiles, preventive medicine strategies, and treatment options. However, it is not clear that the regulatory strategy that currently controls the approval and availability of more limited genetic tests—typically meant to investigate one or a small number of disease or other traits—provides a satisfactory framework for whole genome sequence testing. This Perspective takes the position that the generation of whole genome sequence testing information needs to be treated differently than the tests and results associated with more traditional diagnostic assays. Part I considers the current regulatory environment and efforts to reform the oversight of genetic tests, in particular, the solution to the question of whether consumers should be permitted to order whole genome sequence tests without the guidance of a health-care professional. Part II discusses how whole genome sequence tests differ from conventional genetic tests both in the vastly greater amount of information that is generated and in the ways the information can be interpreted and reinterpreted for different purposes at different times. Part III suggests that rather than using the current regulatory approach of concentrating on technical attributes of the whole genome sequence testing process, regulatory approaches should be directed to the tools needed to analyze and apply deoxyribonucleic acid (DNA) sequence information. Such efforts will safeguard patients from adverse outcomes associated with unreliable disease-risk prediction, while improving access to the perceived benefits of whole genome sequence testing.