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May 23/30, 2012

Genomic Sequencing in Newborn Screening Programs—Reply

Author Affiliations

Author Affiliations: Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, Ohio (Dr Goldenberg); and Department of Bioethics, Cleveland Clinic, Cleveland, Ohio (Dr Sharp; sharpr3@ccf.org).

JAMA. 2012;307(20):1911-1912. doi:10.1001/jama.2012.3643

In Reply: Drs Dondorp and Greeley and their colleagues highlight the range of important ethical and societal issues that must be examined if genomic screening is to become a reality.

Although we agree with these commentators that the disclosure of genomic sequence data should be limited to clinically actionable information, medical applications of next-generation sequencing have been limited to date. As a result, deciphering the clinical meaning of genomic sequence data has proven difficult.1 In response, both the National Institutes of Health and the American College of Medical Genetics are leading efforts to clarify which genomic variants should be considered clinically actionable. These critical steps toward genomic screening will likely give rise to some initial criteria for determining clinical actionability. In the absence of consensus about clinical actionability, however, state NBS programs that pursue genomic screening have little guidance to draw upon in deciding which results to report. This may result in inconsistent approaches across states and declining confidence in the integrity of NBS.