Genetic counseling and risk communication services of newborn screening programs

Objectives: Newborn screening test results labeled "positive" can have uncertain implications for parents, especially when false-positive results occur or when heterozygous infants are detected using molecular tests for sickle cell hemoglobinopathy or cystic fibrosis. This study surveyed communication services across state newborn screening programs. Methods: We surveyed newborn screening programs to identify current communication practices and the methods used for quality assessment. Two successive survey instruments with fixed-answer and free-answer questions were distributed to screening program follow-up coordinators or similar designated officials associated with 52 states and territories. Results: Replies from 46 respondents (89% response rate) revealed that regional newborn screening programs vary widely in their approaches to counseling. Of the 46 respondents, 35 (76%) answered that they "routinely" provide counseling services to families of affected infants. Depending on the disease, an average of approximately one-half that number provide counseling after false-positive results or for heterozygous infants. Most respondents advocate nondirective counseling more than direct advice. Most programs reported that counseling was usually done by subspecialist physicians or specially trained nurses and counselors. Respondents reported a perception that the "quality" of counseling by these professionals is better than counseling by primary care physicians. Few programs reported systems for assessing quality assurance of counseling. Conclusions: Newborn screening programs in the United States vary widely with regard to counseling practices, and no best practices are currently evident. Few programs provide counseling quality assurance. Further study and advocacy is needed to optimize communication services, preferably before implementation of molecular tests arising as a result of the Human Genome Project.