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
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
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