Assuring clinical genetic services for newborns identified through U.S. newborn screening programs

PURPOSE: The study purpose was to determine whether U.S. newborn screening and/or genetics programs systematically document whether newborns and their families, identified with genetic disorders through newborn dried blood spot screening, receive clinical genetic services. METHODS: Nineteen state genetic plans were reviewed and a 30-question survey was administered to 53 respondents, including state newborn screening program coordinators and state genetics program coordinators in 36 states and principal investigators of 5 Health Resources and Services Administration-designated regional genetic and newborn screening collaboratives. RESULTS: Survey findings indicate that none of the state newborn screening and/or state genetics programs routinely tracked patient-level data on clinical genetic services for newborns identified with all of the genetic and congenital conditions for which their programs screened. Few programs could provide information systematically on whether patients were referred for, or received, genetic counseling. CONCLUSIONS: Systematic tracking of clinical genetic services for newborns identified by newborn screening programs is desirable and manageable. Recent national guidelines recommend tracking genetic counseling in newborn screening follow-up. The communications processes that state programs currently use to obtain follow-up reports from subspecialists could be augmented with clinical genetic service questions. Programs should be encouraged and supported in the efforts to track genetic services for the benefit of newborns and their families.