The most important test no one remembers

Newborn screening (NBS) has been cited by the U.S. Center for Disease Control (CDC) as one of the most impactful public health initiatives of the 20th century, and in the 21st century has undergone significant expansion through improved techniques of high throughput biochemical analysis, enzymatic activities and specific molecular defects. Screening is particularly indicated for medical conditions in which early treatment is more effective than treatment in later stages of the condition. Population screening adds a requirement of broader societal benefit to those related to individuals. Until recently, more than 130,000 babies a year in the Commonwealth of Pennsylvania underwent 10 mandated tests for rare genetic and metabolic diseases in addition to tests for hearing loss and cardiac defects. If babies are not tested and treatment is not started early for these disorders, the consequences can be devastating, and even deadly. Until recently, Pennsylvania’s Newborn Screening Program ranked poorly among all states, receiving in 2019 the grade of “C” from the National Organization for Rare Disorders. The grade was based on several factors. A major problem was that screening was not mandated for all nationally recommended disorders. For example, while California tests for 64 genetic and metabolic conditions, Pennsylvania offered tests for 37, and, only 10 of those were mandated by the state.

Enter Senate Bill 983 and House Bill 730 that were passed by the legislature and signed into law by Gov. Wolf at the end of 2020. As a result of these bills, all diseases covered by the Pennsylvania Newborn Screening Program are now mandated for screening. This list of disorders includes all those currently recommended by the Health and Human Services committee that curates the national recommended uniform screening panel (known as the RUSP). In addition, a new disorder, Krabbe disease, has been added to the Pennsylvania panel, making Pennsylvania a leader in screening for this devastating neurodegenerative disorder. The bill further provides for a non-legislative mechanism for expansion of the panel that will be driven by the best medical evidence and be non-political. The cost for the extra screening will be billed to hospitals and birthing centers and a special fund is anticipated to allow coverage for babies of families born out of hospital and without insurance. The state will continue to pay for those disorders previously covered by the screening program ($52 per baby), while the billed portion is projected to be about $40 per baby. The Pennsylvania Department of Health will continue to administer the program and ensure follow up of all screening results, while the technical advisory board remains in place to assess the addition of new disorders to the screening program.

Conditions now mandated for screening in Pennsylvania include a variety of organic and amino acidopathies, fatty acid oxidation disorders, congenital thyroid deficiency, adrenal hyperplasia, galactosemia, spinal muscular atrophy, severe combined immunodeficiencies, hemoglobinopathies, lysosomal storage disorders, cyanotic congenital heart disease and hearing impairment. Follow up for such a wide variety of disorders is by necessity disease specific. The newborn screening program provides information at the time of an abnormal report to the physician of record on appropriate specialists or centers, which can then provide direct next steps in diagnosis and treatment.

The story of phenylketonuria (PKU) is instructive for understanding the importance of newborn screening. A rare disease (present in one in 15,000 babies born in the United States), PKU left untreated causes severe mental handicaps as affected children cannot metabolize the amino acid phenylalanine, one of the building blocks of all protein. Phenylalanine is toxic to the brain, but if detected early, medical foods (proteins without phenylalanine) can be provided to babies, thus avoiding the crippling effects of the disease. Beginning in the 1960s, mandated newborn screening for phenylalanine has saved generations of babies from these devastating effects. It has been estimated that identifying and treating one baby with PKU from birth saves in excess of $1 million in medical expenses over the life of that child, and this is only one of dozens of diseases covered by the new bill.

Newborn screening saves lives – thousands and thousands of lives since its inception. All were saved because of simple and inexpensive tests given at birth: public health at its best. All Pennsylvania babies share in that benefit and will have that benefit expanded by this new law.