Regional implementation of newborn screening for critical congenital heart defects

Problem: The U.S. Secretary of Health and Human Services added critical congenital heart defects (CCHD) to the Recommended Uniform Screening Panel in September 2011. States that are accustomed to newborn blood spot and hearing screening are struggling to implement this new type of point of care screening. Reactions from newborn screening programs in the Western States Genetic Services Collaborative (WSGSC), one of the seven federally funded Regional Genetics Collaboratives, range from inaction to others that are fully implementing CCHD screening including introducing new legislation to reflect the different level of responsibility a state might have for CCHD screening. Methodology: Newborn screening programs in the WSGSC have been interviewed regularly from October 2011 to determine their program's implementation efforts for newborn screening for CCHD. Results: Many newborn screening programs in the WSGSC are not active in implementing newborn screening for CCHD. Some are supportive of the birthing facilities in their state to adopt the screening practice but will not be participating in the screening. One state newborn hearing screening program has been mandated to take on CCHD screening leaving the bloodspot screening program free of the responsibility. Finally, one state program has convened a community task force to discuss newborn screening for CCHD and introduced legislation to mandate point of care screening. Implications: The discussion will: 1) illustrate the reasons for the differences in effort among the states for implementing CCHD newborn screening; and 2) provide information about how some of the states are overcoming the barriers to CCHD newborn screening.