Genetic counseling and risk communication services of newborn screening programs

Objectives: Newborn screening test results labeled "positive" can have unce rtain implications for parents, especially when false-positive results occu r or when heterozygous infants are detected using molecular tests for sickl e cell hemoglobinopathy or cystic fibrosis. This study surveyed communicati on services across state newborn screening programs. Methods: We surveyed newborn screening programs to identify current communi cation practices and the methods used for quality assessment. Two successiv e survey instruments with fixed-answer and free-answer questions were distr ibuted to screening program follow-up coordinators or similar designated of ficials associated with 52 states and territories. Results: Replies from 46 respondents (89% response rate) revealed that regi onal newborn screening programs vary widely in their approaches to counseli ng. Of the 46 respondents, 35 (76%) answered that they "routinely" provide counseling services to families of affected infants. Depending on the disea se, an average of approximately one-half that number provide counseling aft er false-positive results or for heterozygous infants. Most respondents adv ocate nondirective counseling more than direct advice. Most programs report ed that counseling was usually done by subspecialist physicians or speciall y trained nurses and counselors. Respondents reported a perception that the "quality" of counseling by these professionals is better than counseling b y primary care physicians. Few programs reported systems for assessing qual ity assurance of counseling. Conclusions: Newborn screening programs in the United States vary widely wi th regard to counseling practices, and no best practices are currently evid ent. Few programs provide counseling quality assurance. Further study and a dvocacy is needed to optimize communication services, preferably before imp lementation of molecular tests arising as a result of the Human Genome Proj ect.