Universal genomic testing of newborns: bowl of cherries or can of worms?

Content Notes


The first gene was sequenced by "reverse genetics" in 1989, launching the Human Genome Project. Genetic technologies have advanced and found usefulness in many areas of science and medicine. Concurrently, the general public has become more comfortable with the idea of genetic testing. Testing asymptomatic minors for genetic carrier status and later-onset conditions is against the policy of the American College of Medical Genetics and Genomics. There is one exception to this policy: public health programs screen newborns for genetic conditions. These programs demonstrate the success of early screening and treatments. But they are purposefully limited in scope. Risks of early genetic diagnosis, particularly for later-onset conditions, includes both psychosocial and legal concerns. Protections are currently in place to prevent employment and health insurance discrimination, but there is no guarantee that these will continue. There are no protections with regard to education, military service, or disability or life insurance.

General Notes

Tuesday, January 8, 2019; noon to 1 p.m.; Room D1.602. "Universal Genomic Testing of Newborns: Bowl of Cherries or Can of Worms?". Angela E. Scheuerle, M.D.; Professor, Department of Pediatrics, Division of Genetics and Metabolism; Professor of Pathology, Division of Genetic Diagnosis; Professor, Eugene McDermott Center for Human Growth and Development; The University of Texas Southwestern Medical Center.

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