Earlier this year, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) issued recommendations and proposed best practices for genetic testing and screening of infants and children. In Ethical and Policy Issues in Genetic Testing and Screening of Children, the AAP and ACMG reviewed the scenarios in which genetic testing or screening of minors may occur and recommended best practices for such testing. (See post of March 4, 2013 for a review of the report.) The University of California, South Francisco (UCSF) and UC Berkeley recently announced a pilot project that will study and address several issues raised but by the AAP and ACMG, and in particular, whether large-scale gene sequencing to detect disorders and conditions should be performed routinely for newborns. The study is one of four projects supported by the National Institutes of Health (NIH) to evaluate the accuracy and feasibility of conducting genetic sequencing along side current newborn screening that relies on biochemical analysis. The study will also evaluate what additional information would be useful to have at birth and the ethics and public interest in conducting newborn genetic tests.

The UCSF and Berkeley study will focus on the sequencing the exome (the portion of the genome that encode proteins) and its potential to identify disorders that California currently includes in newborn screening. The study also will evaluate what additional disorders should be included in newborn screening, for example the disorders for which early intervention would be beneficial. In addition to prospective studies, the group in partnership with the California Department of Public Health, will conduct genetic analysis of blood collected from 1,400 children who received conventional newborn screening. The results will be compared to determine if genetic analysis of the samples is more accurate than conventional biochemical analysis.

In addition to collecting and analyzing the data, the group also will develop a participant protection framework for conducting genomic sequencing during infancy and will explore legal issues related to using genome analysis in newborn screening programs.

Similar NIH-supported studies are being conducted by Brigham and Women’s Hospital in Boston, Children’s Mercy Hospital in Kansas City, and the University of North Carolina at Chapel Hill.