Federal Task Force Expected To Recommend Newborn Screening for 30 Rare Diseases
A federal health task force this week is expected to recommend that all U.S. newborns be screened for at least 30 "rare but life-threatening genetic disorders" based on the findings of a three-year study by the American College of Medical Genetics, the Wall Street Journal reports. Many parents are not familiar with the diseases, which affect fewer than one in 10,000 births. Michael Watson, lead author of the ACMG report, said the 30 diseases in most cases can be treated if detected early. The task force also is expected to consider a request from some parent advocacy groups that want several dozen other diseases on the screening list -- even if they can't be treated -- so parents can be informed about a child's health. HHS is likely to adopt the recommendations and help states begin to meet the new guidelines within the next few months, according to Peter van Dyck, associate administrator for HHS's maternal and child health bureau.
"This would represent a very major change in how we test for genetic diseases," Ellen Wright Clayton, director for the Vanderbilt Center for Genetics and Health Policy, said. She added, "Many states are not prepared to conduct these tests and are going to require a lot of federal assistance." To screen for all 30 diseases at the same time, blood from a newborn's heel must be analyzed in a tandem mass spectrometer, which costs about $300,000. Some task-force members who have read the ACMG report said HHS might link federal funding for state-run child-health programs to states' compliance with the screenings, the Journal reports. The screenings would cost about $80 per newborn (Waldholz, Wall Street Journal, 9/21).