Inconsistent Newborn Disease Screening Causes Diagnosis Delays Across States
Varying state policies on newborn genetic screenings have led to some babies being diagnosed with rare diseases too late for effective treatment. The Department of Health and Human Services recommends screening for 37 disorders, but no state screens for all of them. Parents and doctors are pushing for expanded screening to save lives, citing the increasing number of treatable genetic diseases. However, getting a condition added to the federal Recommended Uniform Screening Panel is difficult, and some committee members have expressed concerns about the risks of stem cell transplants.