Newborn Screening Program Update

It has been just over 18 months since Nemours Children’s Hospital, Delaware partnered with the State of Delaware to manage the newborn screening program. We would like to take this time to provide an update to our partners in the community regarding our progress.

• Several partnering birthing hospitals are taking advantage of free Saturday shipping of specimens offered by our state’s newborn screening laboratory provider, PerkinElmer. We anticipate that this will significantly reduce the time it takes from collection to receipt by the lab and speed the availability of newborn screening results.
• The state identified Children’s National Health System as its preferred metabolic referral center for disorders such as organic acidemias and free fatty acid oxidation disorders, as specialists are not available in the state of Delaware. These disorders require urgent consultation and evaluation by an experienced team of providers and Children’s National has been a wonderful partner to date. We referred four patients since Oct. 1, 2018 and received positive feedback from the primary care doctors about the families’ experiences and the communication between offices.
• The newborn screening program continues to work with the Delaware Health Information Network (DHIN) to explore having newborn screening results available in the community health record.
• The newborn screening program partnered with the Nemours Division of Pulmonology’s cystic fibrosis team to receive a grant from the Cystic Fibrosis Foundation. This partnership resulted in the average age of diagnosis decreasing from 36 days in 2017, to 20 days in 2018.

One of the most impactful changes over the last year was the appointment of the Newborn Screening Advisory Committee by Governor John Carney. This committee is tasked with advising the director of the Division of Public Health (DPH) regarding newborn screening in the state of Delaware. The committee is comprised of pediatricians, pediatric specialists, an ethicist, an attorney, and representatives of the State, along with people with disorders and parents of children with disorders identified through newborn screening. The committee made several recommendations this year to DPH Director Karyl Rattay, MD, MS. Two changes will most impact primary care doctors in the state:

• The recommended uniformed screening panel (RUSP) is a list of disorders recommended by the Secretary of the U.S. Department of Health and Human Services (HHS) for states to screen at birth as part of their state universal newborn screening (NBS) programs. Delaware currently screens for all but four disorders on the RUSP. The Newborn Screening Advisory Committee recently recommended adding these four disorders to Delaware’s newborn screening panel: spinal muscle atrophy (SMA), x-linked adrenoleukodystrophy (X-ALD), Pompe disease, and mucopolysaccharidosis type I (MPS-1). If approved, we anticipate the screening for these conditions will begin no later than January 2020. More information will follow.
  
• Delaware is one of only 14 states that have two required newborn screens, one at 1-2 days of age and another between 7-28 days of age. After reviewing our data for the last 18 months and sharing this data with the Newborn Screening Advisory Committee, the Committee recommended eliminating the routine second screen in the state of Delaware. Our second routine screening following an initial normal screen was traditionally done to detect congenital hypothyroidism. However, less than 50% of infants in the state had routine screens collected in the recommended timeframe following a normal first screen. In reviewing our data, we plan to lower the threshold of the thyroid stimulating hormone (TSH) on the first screen. This will lead to more borderline first screens that require repeat screens, but will eliminate the need for the recommendation for thousands of infants to have second screens.

So far this year, the newborn screening program has had 18 confirmed diagnoses through newborn screening. As always, we thank all of our community partners, from the birthing hospitals to the primary care doctors who helped evaluate and diagnose these infants and ensured they received needed care. This partnership is what makes our newborn screening program so successful. We welcome any feedback or questions you may have.