- Donate
- Understanding Rare Disease
- Living with a Rare Disease
- Community Support
- Advancing Research
- Driving Policy
- Get Involved
- Rare Disease News
- Resource Library
- About Us
- For Clinicians & Researchers
- For Patient Organizations
NORD supports robust, well-funded newborn screening programs in every state
Newborn screening (NBS) traces its origins to the 1960s, when Dr. Robert Guthrie developed a blood test to screen newborns shortly after birth and before a child was showing any symptoms for phenylketonuria (PKU). 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.
Presymptomatic screening at birth allows for early intervention to ensure a child can live the healthiest life possible. Of the four million infants screened annually, more than 12,000 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 the US. This section of the State Report Card evaluates each state on whether they have adopted policies that are key to operating a successful NBS 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 stateโs specific needs. The federal government also plays a role in administering and adding to the Recommended Uniform Screening Panel (RUSP), which is a set of recommended conditions for which the federal government has validated the diagnostic test and treatment. To date, a total of 37 conditions make up the RUSP, plus screening for hearing loss.2 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 assesses states based on the number of RUSP core conditions included in a stateโs NBS panel. The more RUSP conditions on the state panel, the higher the grade received by the state.
Adding RUSP Core Conditions
As new diagnostic tests and treatments for heritable diseases are approved, and after a rigorous review process by the Health Resources & Services Administration (HRSA), the RUSP can be updated to include additional conditions. The most recent condition added to the RUSP was Guanidinoacetate Methyltransferase Deficiency in 2022.3
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 several 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 in which the state adds 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.
Funding
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 programโs 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 stateโs NBS program. Therefore, states with consistent, robust funding mechanisms for NBS programs received a higher grade.
Advisory Committee
NORD strongly supports the establishment and utilization of a NBS advisory committee, or other similar entity, comprised of diverse stakeholders with a vested interest in the programโs 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 grade for a particular state. NORD grades on whether a state has a committee, not on the experience represented on the advisory committee.
Dried Blood Spot Use
To conduct the screen, a small blood sample needs to be collected from the newborn. The sample is collected by a โheel prickโ on the babyโs 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. DBS use is not graded in this yearโs State Report Card, but information on state policies around DBS retention and use are included for information purposes.
Grading Methodology
NORDโs 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 four grades:
A state will receive an โAโ 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, and has an advisory entity that includes a wide range of stakeholders that meet more than once a year. NORD did not conduct interviews of state officials involved in NBS programs to determine this reportโs results. Instead, information was pulled from publicly available sources in the fall of 2023 to inform our analysis.
Click to enlarge
