Damara Ortiz, MD, FAAP, FACMG, Assistant Professor of Pediatrics and Director of the Lysosomal Storage Disorders Program at UPMC Children’s Hospital of Pittsburgh, gives an overview of the Recommended Uniform Screening Panel (RUSP) and why it often creates confusion for both parents and physicians.
The RUSP is a list of disorders that the Secretary of the Department of Health and Human Services (HHS) recommends that states screen for as part of their state universal newborn screening (NBS) programs. Though most states screen for the majority of the conditions outlined in the RUSP, as Dr. Ortiz notes, the RUSP is the recommended uniform screening panel. Therefore, it is ultimately up to the state to decide which conditions will be screened for, which can add additional confusion to the newborn screening process.
Furthermore, a positive screening of a disease is not a diagnosis which gives geneticists the responsibility of helping parents get in touch with the right specialists while still explaining that their child may not develop the disorder for which they screened positive.
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