On the ethics of clinical whole genome sequencing of children.

نویسندگان

Thomas May

Kaija L Zusevics

Kimberly A Strong

چکیده

In 2009, scientists here at the Medical College of Wisconsin (MCW) demonstrated the ability to apply whole exome sequencing (WES) to diagnose a pediatric patient with a rare digestive disease. WES enables the evaluation of the known protein coding DNA sequence of an individual. For the MCW patient, WES provided confirmation of an immune disorder,* thereby warranting treatment with a cord blood transplant: a treatment that saved his life but would not have been undertaken without that confirmation. This groundbreaking story was prominently featured in a series of Pulitzer Prize–winning stories in the Milwaukee Journal Sentinel, scholarly publications, and a segment of the PBS television program Nova. As predicted by Francis Collins, success of WES in cases like this has spurred interest in further application of this diagnostic tool. MCW has now expanded its program to include whole genome sequencing (WGS) and has since received requests from around the world to perform WGS. Additionally, in partnership with Children’s Hospital of Wisconsin, a pilot program of clinical WGS has recently been completed. As with most new technologies, WGS has sparked controversy concerning whether its clinical application should move forward or if this technology should be confined to the research domain until specific clinical policies are established. Here, we articulate reasons to continue moving forward with clinical WGS.

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