NORD supports robust, well-funded newborn screening programs in every state.
Since the 1960s, newborn screening (NBS) programs throughout the United States have been successful at increasing the number of newborns screened at birth and, as a result, saving lives. Each year, approximately four million babies are screened for serious disorders that are present at birth. Of those four million, screening identifies over 12,000 infants annually with a disorder that, if left undiagnosed and untreated, would cause severe developmental disability or death.¹ Because of the rise in treatments and tools to screen for heritable disorders, NBS has evolved into one of the most effective public health programs in the US. The State Report Card evaluates each state for the following attributes, which NORD believes are critical to a successful newborn screening program.
Screening for RUSP Conditions
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 plays a role in developing and adding to the Recommended Uniform Screening Panel (RUSP), which is a nationwide set of recommended core conditions for which each state’s NBS program should screen; many states also screen for secondary conditions.² However, states ultimately retain flexibility in terms of which RUSP and secondary conditions for which they screen. NORD supports each state screening for all the conditions on the RUSP. For most states, the addition of a condition to the NBS program is dependent on budget conditions within the state as well as considerations of the prevalence of the condition. NORD assessed the number of RUSP core conditions on a state’s NBS panel; the more RUSP conditions on the state panel, the higher grade the state received.
Adding RUSP Core Conditions
As therapies and tests for heritable diseases are discovered, the RUSP list of core conditions is amended to include any additional conditions. One recent example is spinal muscular atrophy (SMA), which was added in 2018.³ NORD believes that it is important for states to have a plan in place to add conditions, when they are added to RUSP, to their own state screening panel in efficiently and without unnecessary barriers. A state’s ability to add RUSP conditions to the state panel can also be dependent on budgets and other factors. The process for adding conditions can be time intensive as well; there is usually a pilot period where the state selectively rolls out the new condition to ensure they have the proper processes and tools in place to handle the additional workload. 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 NBS programs across the country comes largely from a fee for conducting the screening. NORD believes that state health departments should be permitted to independently set NBS fees to meet the needs of the program and not be dependent on yearly appropriation from local governments. In some states, NBS fees are funneled to other programs that are not related to the NBS program. NORD supports policies that require all collected fees to be applied directly towards maintaining and improving the state’s NBS program. States with robust funding mechanisms for NBS programs received a higher grade.
Dried Blood Spot Use
Before the screen can be conducted, a sample needs to be collected from the newborn. This is done by a “heel prick” on the baby’s foot, and the resulting blood is collected on special paper. Enough blood is collected for the lab to run initial and secondary screens, if necessary. The leftover 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. Use of the DBS generally falls into three categories: (1) DBS are used for quality assurance and quality control (QA/QC) purposes, such as to verify the results of other NBS tests; (2) states use DBS to advance knowledge and tools for screening itself, such as the development of new tests and improvement of existing testing technology; and (3) DBS are provided to outside researchers to conduct clinical studies on the diseases themselves or to better understand the genetic origins of diseases. In some cases, this research can lead to new treatments. In all three scenarios, the DBS is de-identified, or stripped of anything that could link them to the infant, to preserve patient privacy. States that retain DBS samples and use them for research, as well as QA/QC, received a higher grade.
In order to assure robust NBS programs, NORD strongly supports the utilization of an advisory committee in each state made up of governmental and non-governmental members that meet at least once a year. NORD does not grade on the profession or the experience represented on the advisory committee in the report, merely on characteristics of the committee’s existence such as the number of times they meet per year and affiliation with the local government. However, NORD believes that NBS advisory committees should be made up of experts including, but not limited to, 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. A robust panel of stakeholders with a vested interest in the program’s success will lead to a better NBS program in the state. States with an advisory committee that has both governmental and non-governmental members who meet more than once a year received a higher grade.
NORD’s State Report Card grades states separately on the following five categories, and an overall state grade for NBS was determined by taking the average of these five grades:
A state will receive an “A” if it screens for all RUSP core conditions, automatically adds conditions to the state panel when they are added to the RUSP, has a distinct stream of revenue for NBS, has a fee that is determined by their health department and can be easily set or changed, uses the DBS for research as well as for QA/QC purposes, and has an advisory entity that includes a wide range of stakeholders who meet more than once a year. 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 2020 to inform our analysis.
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