News and Events : 2013 : October

Miller School medical geneticist discusses interest in sequencing-based newborn screening

Olaf Bodamer, M.D., Ph.D., FACMG, FAAP, clinical professor in the Dr. John T. Macdonald Foundation Department of Human Genetics, was invited to discuss the pros and cons of genomic technology and newborn screening in a panel at the annual American Society of Human Genetics (ASHG) meeting in Boston. Newborn screening is “internationally recognized as a public health tool and is immediately useful for the infant,” said Dr. Bodamer. He noted that genomic sequencing as a newborn screening tool may not be ready yet to be put to such a task and explained that screening technologies have to meet certain technical criteria, such as having high-throughput and multiplex capabilities, short turnaround times, high specifications and sensitivities, stable and automated platforms, and low per-sample costs. While screening programs have traditionally focused on conditions whose early identification would benefit the child, an expanded panel of diseases would shift away from that approach and lead to ambiguous information of uncertain benefit. Dr. Bodamer further argued that there is currently a lack of good evidence for the inclusion of a number of diseases on the newborn panel that are tested through traditional means.
GenomeWeb published an article about the panel discussion: Click here