新生儿筛查项目中的遗传咨询和危险交流服务
[引自Arch Pediatr Adolesc Med 2001 Feb;155(2):120-126]
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.
