For more than 50 years, newborn screening for rare and congenital conditions has been part of healthcare in the United States. What began as a single test for the metabolic disorder phenylketonuria (PKU) has now grown into screening for dozens of diseases, and the results are significant. Each year, an estimated 12,900 babies – or one in every 300 tested – benefit from early detection, delivery of life-saving treatments for conditions such as sickle cell disease and cystic fibrosis, and improvements in long-term health outcomes.
And yet, the ongoing expansion of Newborn Screening (NBS) is far from assured without continuing support and advocacy, driven by a growing awareness among all stakeholders, from parents and physicians to pharmaceutical manufacturers, payors, and legislators. September is Newborn Screening Awareness Month. Now more than ever before, it’s important to share both the considerable progress made in preventing mortality and disability as a result of NBS as well as the roadblocks to moving forward with even greater success over the next 50 years.
1. NBS is Highly Effective: Newborn screening tests are quick, non-invasive, and highly effective. These consist of:
- Blood sample (from a heel stick) to check for rare genetic, hormone-related, hemoglobin, and metabolic conditions.
- Pulse oximetry. Added to NBS in 2012, this test measures blood oxygen levels and helps identify babies who may have critical congenital heart disease.
- Hearing test. An Otoacoustic Emissions test to determine if parts of the baby’s ear respond to sound or an Auditory Brain Stem Response test to evaluate the brain’s response to sound are used. In 1999, these tests helped identify the 1 to 3 of every 1,000 babies born with some degree of hearing loss.
The importance of NBS continues to grow in helping identify conditions and prevent irreversible complications, including brain damage, severe motor and speech skills problems, seizures, stunted growth, muscle weakness, and feeding difficulties.
2. Rare and Genetic Treatments are Increasing: Currently, 35 core conditions and 26 secondary conditions have been identified by the U.S. Department of Health and Human Services on its Recommended Uniform Screening Panel (RUSP) for newborns. Three new diseases have been added in the past six years, including spinal muscular atrophy (SMA) in 2018, Mucopolysaccharidosis Type I (MPS I) in 2016, and Pompe disease in 2013. However, advances in technology and treatment for rare genetic conditions are coming at a more rapid pace. According to EveryLife Foundation, modernizing today’s newborn screening processes and systems is critical to keep up with these potentially transformative technologies and treatments. Delays in adopting new screening recommendations are also frequently seen across the country. For example, while severe combined immunodeficiency and critical congenital heart disease were added to the RUSP in 2010, it took states over three years on average to include these in their newborn screening panels.
3. NBS No Longer Federally Mandated: Newborn screening programs are no longer federally mandated, and implementation across the states can vary. This is not to diminish the significant improvements made since the passage of the 2007 Newborn Screening Saves Lives Act when only ten states and the District of Columbia required infants to be screened for the 29 disorders recommended at that time. Today, all 50 states require screening for 31 of the 35 conditions – but looked at another way, 33 states do not screen for all of the federally recommended conditions.
According to the National Conference of State Legislatures, each state decides which RUSP conditions to include on their screening panel, balancing the cost of often expensive treatment with the cost of an undiagnosed and untreated rare disease that can lead to long-term disabilities or death. States are also responsible for financing laboratory, follow-up, and program management cost. This state-by-state approach can be frustrating and inconsistent. For example, in New York and South Carolina, screening for Krabbe disease, which is not on the RUSP list, was approved, while in Oregon, SMA screening, which is part of RUSP, was not approved. Advocacy can result in changes, according to the National Organization of Rare Disorders (NORD). They advise parents who seek to add a specific condition to their state list to amplify the need by partnering with community members, scientists, medical providers, and NORD’s own Rare Action Network.
At Orsini Specialty Pharmacy, we encourage all in the rare disease community to learn more at Baby’s First Test and join us in helping raise awareness of why newborn screening is essential – this September and beyond.
Orsini is the leading independent national specialty pharmacy providing empathetic and comprehensive care for patients with rare diseases and complex conditions.