Gerald Vockley, MD, Ph.D., Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, provides a brief history of newborn screening.
Newborn screening began in the 1960s with phenylketonuria (PKU), pioneered by Dr. Robert Guthrie. An NBS program to screen for PKU is important since the disease can lead to permanent damage unless treated early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment plan early.
As Dr. Vockley explains, other metabolic conditions also have treatments available that can help young children dramatically. These can include medium- and long-chain fatty acid oxidation disorders. To date, there are over 30 conditions on the Recommended Uniform Screening Panel (RUSP), which includes not only many metabolic conditions, but also endocrine disorders (hypothyroidism, adrenal hyperplasia), hematologic disorders (sickle cell disease, beta-thalassemia), as well as several newer disorders, including Pompe disease, spinal muscular atrophy, x-linked adrenoleukodystrophy, and MPS I.
Dr. Vockley, along with David Kronn, MD, at New York Medical College, hosted a four-part CME program on newborn screening that includes:
- Newborn Screening: RUSP to Reality
- How to Talk to Parents About Positive Test Results
- Focus on Metabolic Conditions
- Focus on Hemoglobinopathies and Newer Disorders on the RUSP
