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Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening

Hastings Investigators: Erik Parens and Josephine Johnston

Principal Investigator: Robert Nussbaum, M.D., University of California, San Francisco;
ELSI Project Director: Barbara Koenig, PhD, University of California, San Francisco

Funder: National Institutes of Health

As the cost of whole genome analysis (WGA) falls, it is expected to become widely available for making diagnoses, risk assessments, and treatment decisions. One possible clinical application of WGA is in newborn screening. Currently, newborn babies are screened for between 29 and 60 conditions (programs vary by state). But WGA would significantly increase the number of conditions screened for, as well as expand the type of information revealed, including the risk of late-onset disorders, incidental information of potential benefit to the health of parents or other family members, findings pertinent to the parents’ reproductive decision-making, and genetic variants whose significance is unknown.

In order to manage expectations and guide the appropriate adoption of WGA in the newborn screening context, The Hastings Center is working with a team at University of California, San Francisco, to identify and examine the ethical, legal, and social implications of the application of WGA to newborn screening. To illuminate that analysis, the Center is focusing on one likely category of gene variants as a case study: pharmacogenomic predictors of drug response.

The Hastings Center is leading the project’s Ethics and Policy Advisory Board, which is charged with developing and disseminating policy recommendations for expanded newborn screening programs using WGA. The board will accomplish this goal by drawing on relevant literature, as well as empirical and legal research carried out by other members of the project.