SAN DIEGO, CA, JULY 15, 2007 — Recommendations published last year by an influential group called for the adoption of a uniform panel of genetic conditions for which all newborns should be screened, and state programs are now responding. The recommendations, published by an expert panel assembled by the Health Resources and Services Administration and the American College of Medical Genetics, called for states to mandate screening for 29 conditions. As a result, 98% of U.S. newborns are now being screened for at least 20 disorders or diseases, while 83% are being screened for more than 30 conditions.
“We are really very close to a full implementation of the uniform panel across the country, and the testing now being performed is far more homogeneous than it was in the past,” says Piero Rinaldo, MD, PhD, a member of the expert panel and the T. Denny Sanford Professor of Pediatrics at the Mayo Clinic in Rochester, MN. Altogether, the uniform panel includes 54 conditions—the 29 that the group believes should be mandated and 25 others that are recommended for consideration. According to Rinaldo, 42 of the 54 conditions can be detected by a single analysis using tandem mass spectrometry.
Prior to the release of the uniform panel, there were no national newborn screening standards that described which conditions to include in screening programs. Consequently, some states were screening for more than 30 disorders or diseases, while others were screening for as few as five.
“We don’t want to lose the momentum generated by this recent effort,” said Rinaldo, “so the Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children will be defining a process to review the evidence for adding new conditions to the uniform panel.”
Rinaldo, who is also a member of the Secretary’s Advisory Committee, adds that although screening for additional conditions is important, improving the quality of newborn screening should also be a priority for state newborn screening programs. “Ultimately, this is not about counting; the fact that you screen for thirty conditions has no bearing on how well you perform the testing. We need to start talking about performance metrics—setting targets and meeting them.” Dr. Rinaldo and his colleagues will be discussing these issues and others on Tuesday, July 17, 10:30 am–noon, in Room 6C at the San Diego Convention Center.
The 59th Annual Meeting of the American Association for Clinical Chemistry is July 15-19 at the San Diego Convention Center. The meeting attracts 20,000 physicians, scientists and other professionals interested in laboratory science and medicine. More than 200 educational sessions will present the latest information on a wide range of topics in science and medicine.
Interviews with Dr. Rinaldo may be arranged by contacting Brian Ruberry at (619) 525-6227.