The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns as early as possible, often before the infant displays any signs or symptoms of a disease or condition. Such early detection allows treatment to begin immediately, which reduces or even eliminates the effects of the condition. Many of the conditions detectable in newborn screening, if left untreated, have serious symptoms and effects, such as lifelong nervous system damage; intellectual, developmental, and physical disabilities; and even death.
The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), formerly the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, is the federal government committee charged with reducing morbidity and mortality in newborns and children who have or are at risk for heritable disorders such as sickle cell anemia, cystic fibrosis, and hearing impairment.
The committee issues a Recommended Uniform Screening Panel (RUSP) that identifies a number of core conditions—those that states are highly recommended to screen for—and secondary conditions, for which screening is optional. The committee’s recommendations are based on the Newborn Screening: Towards a Uniform Screening Panel and System (PDF - 975 KB) and on current research evidence, which means that the number of core and secondary conditions may change. As of November 2016, the RUSP included 34 core conditions and 26 secondary conditions. Visit the committee’s website for the latest listing of core and secondary conditions.
The committee also advises the HHS Secretary on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines, and standards. Specifically, the committee provides to the Secretary the following:
- Advice and recommendations concerning grants and projects authorized under the Heritable Disorders Program administered by the Health Resources and Services Administration;
- Technical information to develop Heritable Disorders Program policies and priorities that will enhance the ability of the state and local health agencies to provide screening, counseling, and health care services for newborns and children who have or are at risk for heritable disorders; and
- Recommendations, advice, and information to enhance, expand, or improve the ability of the Secretary to reduce mortality and morbidity from heritable disorders in newborns and children.
Baby’s First Test and Baby’s First Test en Español provide a complete list of conditions included in the newborn screening programs for each U.S. state and information about each condition.
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