Handle with Care: State Newborn Screening Policies
May 26, 2023 | Christina Severin, Lauren Jones
Approximately four million infants undergo newborn screening (NBS) each year in the United States. Shortly after birth, babies are tested for various rare and potentially fatal disorders, such as phenylketonuria, cystic fibrosis, and severe combined immunodeficiency. Generally, newborn screening includes collecting a blood sample through a heel prick, placing the samples on filter paper, and sending the samples to a laboratory for testing.
Infants may also undergo a hearing screening, as well as one for congenital heart defects where a pulse oximeter measures the percentage of oxygen in the baby’s blood. Currently, most jurisdictions test for at least 31 of 35 core conditions on the Recommended Uniform Screening Panel (RUSP)—a list of HHS-recommended disorders that jurisdictions should consider as they develop newborn screening programs (NSPs). Early detection through newborn screening and timely medical care can save lives and reduce or even eliminate symptoms for identified conditions.
Routine NBS began in the United States in the 1960s and has grown into a comprehensive and effective national public health program. Each jurisdiction develops and manages its own unique NBS program. As a result, jurisdictions vary in their practices and requirements related to the scope of testing, approach to parental consent, options for blood sample destruction, sample retention periods, and permissible uses of newborn blood samples.
State Bills Related to Newborn Screenings
With respect to broader program impacts, Arkansas enacted HB 1102, adopting the core medical conditions in the RUSP, while clarifying the health department’s responsibility to establish a comprehensive program that support infants with positive results. Similarly, Maryland adopted SB 0188, which creates a rare-disease advisory council tasked with addressing the needs of patients with rare diseases and making recommendations to improve to the state’s NSP.
States are also considering adding new conditions to their newborn screening panels, either through the legislative process or rulemaking. Adding new conditions requires many considerations, including costs of new testing, laboratory capacity and other implementation factors.
H 2218 in Massachusetts, SB 1285 in Texas, and Connecticut’s HB 6821 would require that every infant be tested for congenital cytomegalovirus—an infection that can have long-term complications such as hearing loss, visual impairment, and seizures. Similarly, New York’s A 5402 would require testing for Duchenne muscular dystrophy, while H 2180 would add Krabbe disease to the state’s newborn screening panel.
The Louisiana legislature is considering a different approach to amending its newborn screening panel with HB 200; it would allow the health department to make changes to the list of screened conditions through the rulemaking process instead of legislation.
Outside of the legislative process, several states have pursued administrative actions governing the scope of testing in their NSPs in the past year. For example Utah is actively considering adding both Pompe Disease and Mucopolysacchridosis type 1 (MPS1) to its NSP through the rulemaking process, and New Hampshire updated its NSP rules in early 2023 to include these and also added spinal muscular atrophy (SMA) and X-Linked adrenoleukodystrophy (X-ALD).
Through its condition nomination process, Wisconsin has considered adding X-ALD to its panel, while Pennsylvania has added Mucopolysaccharidosis Type II to its list of conditions, effective July 1, 2023, through its powers under state law.
Because newborn screening involves collecting, storing, and using personal information, health agencies are sensitive to the related legal and ethical issues and being transparent about the benefits of the screening and any subsequent uses, such as public health research to further understand the screened health conditions or quality control processes to validate testing or further refine the newborn screening process.
Some states are considering legislation addressing the retention and subsequent use of newborn screening samples. For example, a bill enacted in Montana (HB 682) requires facilities that collect NBS to destroy any excess genetic material that was collected and not sent to a laboratory for testing, requires consent for any use other than the required screenings, and allows parents or guardians to request destruction of their infant’s blood samples.
California’s SB 625 would (1) allow parents to ask the Department of Health to destroy a child’s blood samples or an adult to ask that their own newborn sample be destroyed, and (2) allow these individuals to request that the samples not be used for research purposes.
In recent years, several states have faced lawsuits regarding their NSPs. For example, families have sued health agencies regarding the approach to parental consent for using blood samples outside of the initial disease screening, and have also challenged retention practices for those blood samples.
In New Jersey, a media organization and the state’s office of the public defender filed an open records focused lawsuit seeking details regarding disclosure of NBS information to law enforcement following the discovery of actions taken by the state police to use NBS information in connection with a criminal investigation. The judge ordered production of the records in early 2023 and the parties have since agreed to dismiss the case.
Some states (e.g., Texas, Minnesota) have settled lawsuits brought by families regarding operation of their NSPs, and have since changed their approach to certain newborn screening practices. Other states are considering the impact of these lawsuits on their NSP’s operations and litigation is ongoing in at least one state.
Recent legislation, rulemaking, and litigation reflect the continued importance and impact of NSPs, which are often seen as one of the most successful public health programs. Advances in genomic medicine and testing technology are likely to continue to impact NSPs and health agencies overall as testing opportunities expand and impacted populations are identified. ASTHO will continue to monitor new developments in this area.