Abstract 715 Poster Session IV, Tuesday, 5/4 (poster 8)

A "positive" newborn screening result may have uncertain ramifications for some families, especially the finding of a heterozygous carrier state, as in Sickle Cell Disease (SC) or Cystic Fibrosis. With the completed Human Genome Project, complex genetic tests will be more common. Newborn screening programs (NSP's) may become key vehicles for early detection of risk for multifactorial diseases such as cancer. Good genetic counseling and risk communication services ("counseling") will then be very important, as test results are likely to have profound psychosocial and/or financial implications. This study marks the first published study of national general counseling services in such institutions. We surveyed programs associated with 52 U.S. states and territories, and received responses from 43 programs (82%). The surveys and accompanying discussions revealed an active, dedicated community of programs with great variation in services, but rare counseling quality assessment. Out of 43 NSP's, 20 (46%) "always" provide counseling to families of infants with positive newborn screening tests; eleven NSP's (34%) "sometimes" provide services. Many of the remaining programs arrange for counseling at another venue. Since risk communication is known to be highly dependent on features of the counseling experience, we asked about professional, gender, and ethnic makeup of counseling providers, and found wide variation [trained genetic counselors (63%), nurses or nurse specialists (69%), and primary care (44%) or specialty (72%) physicians]. Aggregate ethnic percentages were: White (52%), African American (11%), another category (6%), or uncertain (31%), but many programs said that most counselors for SC were African American. Response rate about gender was lower; 18/21 programs responded "majority female." Many NSP's revealed major discrepancies between services for true positive, false positive, and trait newborn screening results; the latter two terms were often used interchangeably, even for tests such as PKU. Of 21 NSP's in which data were available, 13 (62%) reported that they offer or arrange counseling services for SC trait, and 9 (43%) for false positive metabolic tests. Fifteen (72%) NSP's responded that these services were unnecessary or unwanted, often even in the case of SC. When we asked about quality assurance; 7 (22%) programs reported a patient satisfaction measure, and only 3 (9%) programs reported quality assessment for counseling, such as checking for mastery of information. It is unclear whether variations in practice or attitudes about counseling affects family satisfaction, reproductive decisions, or education itself. Further investigation about counseling for traits and "false positives" is needed. Nevertheless, these and other complex findings of this survey will help to plan enhanced genetic counseling and risk communication programs, anticipating the completed Human Genome Project.