About Newborn Screening The Recommended Uniform Screening Panel
What does newborn screening look like nationally?
Although newborn screening programs differ state by state, there are national recommendations to guide and support states in the development of their program. The committee that works to set these national guidelines is called the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). They meet regularly to discuss proposals from parent advocates, organizations and experts in order to keep newborn screening up to date. In addition, the Secretary of the U.S. Department of Health and Human Services reviews the Committee’s recommendations.
The Committee and the Secretary work together to create the Recommended Uniform Screening Panel, or RUSP. The RUSP is a list of conditions, including 34 core conditions and 26 secondary conditions, which the Committee recommends every baby should be screened for. The RUSP recommendation is not a law, but it serves as a helpful guide for the states. After consulting the RUSP, each state chooses which conditions it will include in their newborn screening program. You can view the RUSP on the ACHDNC website here. To see which conditions your state screens for, see our Find a Condition page.
Core conditions are the conditions that newborn screening is specifically designed to identify. A condition on the newborn screening panel is classified as a “core condition” if
- There is a specific and sensitive test available to detect it
- The health outcomes of the condition are well understood
- There is an available and effective treatment
- Identification of the condition could affect the future reproductive decisions of the family
Secondary conditions are the genetic conditions that can be identified when looking for a core condition. A condition on the newborn screening panel is classified as a “secondary condition” if it is identified unintentionally when screening for one of the core conditions, or as a consequence of confirmatory testing for an out-of-range result of a core condition.
Because the conditions found on each state’s newborn screening panel are determined by the state, the number and type of conditions a baby will be screened for vary depending on the state in which he or she is born. Most states will screen for all the conditions found on the RUSP. Some states screen for more conditions. Parents have the option of pursuing additional screening for their child if they are concerned about a specific condition not being screened for in their state.
For a condition to be added to the RUSP, it has to be nominated to the committee by an individual or group. People that have nominated conditions in the past include parent advocates, researchers, or organizations. Once the committee reads the nomination, it is reviewed by workgroups who will then decide if there is enough evidence to support screening for the condition. Following these discussions, the workgroups produce a recommendation, which is reviewed by the Secretary of Health and Human Services. Ultimately, the Secretary of Health and Human Services makes the decision on whether to add the condition to the RUSP. It may take an extended period of time for the committee to review the nominated conditions because it is important to be sure that screening for conditions on the RUSP benefits the most newborns. Once a condition is added to the RUSP, a state may take additional time before screening begins because setting up funding, labs, and educational materials about a new condition is a large task.
For information about nominating a condition, click here.