NORD supports robust, well-funded newborn screening programs in every state.
Newborn screening (NBS) traces its origins to the 1960s. Dr. Robert Guthrie developed a blood test to screen for phenylketonuria (PKU) shortly after birth and before a child began showing symptoms. Presymptomatic screening at birth allowed for early intervention to ensure a child could live the healthiest life possible. Since the 1960s, NBS programs have been established in every state and territory throughout the United States. Currently, approximately four million babies annually are screened for at least 31 serious disorders that can be detected at birth. Of those four million infants screened, over 12,000 newborns are found to have a disorder that, if left undiagnosed and untreated, would cause severe developmental disability or death.1 Due to the rise in treatments and tools to screen for heritable disorders, NBS has evolved into one of the most effective public health programs in America. This section of the State Report Card evaluates each state on the following attributes, which NORD believes are critical to a successful newborn screening program:
NBS programs are regulated and administered at the state level, which allows each program to be customized to fit the state’s specific needs. The federal government also plays a role in administering and adding to the Recommended Uniform Screening Panel (RUSP). The RUSP is a set of recommended conditions for which the federal government has validated the diagnostic test and treatment.² A condition’s inclusion on the RUSP gives confidence in the diagnostic test and treatment and allows the state’s NBS program to more easily add the condition onto their own screening panel. Many states also screen for secondary conditions, which are other serious diseases detectable at birth via NBS. Each state ultimately retains flexibility in terms of which RUSP and secondary conditions are included in their NBS program.
NORD believes that each state should screen for all the conditions on the RUSP and assessed states based on the number of RUSP core conditions included in a state’s NBS panel. The more RUSP conditions on the state panel, the higher grade the state received.
As new diagnostic tests and treatments for heritable diseases are approved, and after a rigorous review process by the Health Resources and Services Administration (HRSA), the RUSP can be updated to include additional conditions. The most recent condition added to the RUSP was spinal muscular atrophy (SMA) in 2018.³
NORD believes that it is important for states to have a plan in place to efficiently add new conditions to their own state screening panel once they are added to RUSP. For most states, the addition of a condition to the NBS panel depends on other factors, such as budget conditions within the state and the prevalence of the condition. Additionally, the process for adding conditions can be time intensive. In many states, there is usually a pilot period where the state rolls out adding the new condition to the testing panel in phases to ensure they have the proper processes and tools in place to handle the additional workload. The pilot can take months or years to complete. States with efficient and effective processes to add conditions to their state panel once they have been included on the RUSP received a higher grade.
NBS programs require funding to support operating costs, including laboratory equipment, skilled personnel, and the tests themselves. Funding for most state NBS programs comes from a fee assessed for conducting the screening. NORD believes that state health departments should be permitted to independently set NBS fees to meet the program’s needs and should not be dependent on yearly appropriations from state governments. NORD has found that NBS programs that control their own funding stream are able to add conditions much more easily than those without that ability. Additionally, NORD supports policies that require all collected fees to be applied directly towards maintaining and improving the state’s NBS program. Therefore, states with consistent, robust funding mechanisms for NBS programs received a higher grade.
To conduct the screen, a small blood sample needs to be collected from the newborn. The sample is collected by a “heel prick” on the baby’s foot and then placed on specially designed paper. Enough blood is collected for the lab to run initial and secondary screens, and if necessary, to conduct additional testing or meet state requirements. The dried blood spot (DBS) that remains following the screening of an infant is an invaluable source of research data on not only the diseases covered by NBS programs, but a host of other conditions.
Subsequent use of the DBS generally falls into three categories: (1) quality assurance and quality control (QA/QC) purposes, such as to validate the NBS tests; (2) advancement of knowledge and tools for screening, such as the development of new tests and improvements to existing testing technology; and (3) use in the conduct of clinical studies on the diseases themselves or to better understand other diseases. In some cases, this research can lead to new treatments for a genetic disease. In all three scenarios, to preserve patient privacy, the DBS is de-identified, or stripped of anything that could link the DBS to the infant. States that retain DBS samples and use them for QA/QC or additional research as outlined above received a higher grade.
NORD strongly supports the establishment and utilization of an NBS advisory committee, or other similar entity, comprised of diverse stakeholders with a vested interest in the program’s success. NORD believes that NBS advisory committees should, at minimum: 1) include a geneticist, a laboratory staff member familiar with the state program, and the parent of a patient with a disease that was discovered by an NBS screen; 2) have both governmental and non-governmental members; and 3) meet at least once a year.
NORD recognizes that many states without advisory committees have NBS programs that are highly successful in all other realms. This reality is taken into account in the final overall grade for a particular state. NORD grades on whether a state has a committee, not on the experience represented on the advisory committee.
NORD’s State Report Card grades states separately on the following five categories, and an overall state grade for NBS is determined by taking the average of these five grades:
NORD did not conduct interviews of state officials involved in NBS programs to determine this report’s results. Instead, information was pulled from publicly available sources in the fall of 2021 to inform our analysis.
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