Data sharing, but with privacy protection, urged for whole-genome sequencing

Trying to head off a quagmire of ethical issues expected to be encountered as whole-genome sequencing enters the public consciousness, the Presidential Commission for the Study of Bioethical Issues has issued a new report calling for respect for individuals’ genetic privacy. But the report, Privacy and Progress in Whole Genome Sequencing, stops short of recommending specific procedures in such gray areas as informed consent as well as for handling the thorny issue of reporting incidental findings. The report acknowledges that whole-genome sequence data gathered almost assuredly will contain information whose importance is currently uncertain but that may raise difficult questions for individuals and their families in years to come. Therefore, the panel cautiously recommends basing consent procedures for clinical whole-genome sequencing on the consent procedures already in place for genetic tests. While stating that “consent processes should ascertain participant or patient preferences at the time the samples are obtained,” it stops short of recommending opt-in consent for future studies, which many researchers say is burdensome and could hinder research. The report also notes that “individuals being asked to consent to whole genome sequencing should understand the volume of data and information to be generated, as well as the risks, benefits, and implications.” However, given the wide range of public understanding of consent procedures, how to accomplish this remains unclear. —Karyn Hede, News Editor

…As the 50-hour newborn genome sequence arrives

As if to illustrate the pressing need for genomic privacy protections, two reports published 3 October 2012 describe diagnostic genomic sequencing in gravely ill newborns and persons with severe intellectual disability—two groups that, it could be argued, are among the most in need of privacy protections. Saunders et al. demonstrated a diagnostic approach using whole-genome sequencing technology in a neonatal intensive care setting at Children’s Mercy Hospital in Kansas City, Missouri. In their proof-of-principle study, the research team retrospectively diagnosed two cases and then prospectively diagnosed four difficult neonatal cases of monogenic disease within two days, using automated bioinformatic analysis that the researchers intend to be a prototype for clinical use in neonatal intensive care units. In a similar study, published in the New England Journal of Medicine, exome sequencing identified novel genetic causes of severe intellectual disability in 16 of 100 patients who had already undergone extensive diagnostic workup—including single-nucleotide polymorphism array profiling and targeted gene tests—to no avail. The exome sequencing of affected individuals and both parents identified rare de novo causative point mutations as well as several potential genes of interest for further study. In an accompanying editorial, Heather Mefford of the University of Washington comments on the rapid entry of whole-genome and exome testing into clinical diagnostic laboratories and urges continued collaboration between researchers and clinicians to ensure adequate quality control and continued innovation. —Karyn Hede, News Editor

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