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Genetic Counseling and Risk Communication Services of Newborn Screening Programs
Michael H. Farrell, MD;
Laura K. Certain;
Philip M. Farrell, MD, PhD
Arch Pediatr Adolesc Med. 2001;155:120-126.
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.
From the Departments of Pediatrics and Internal Medicine, Yale University
School of Medicine, New Haven, Conn (Dr M. H. Farrell); and the Department
of Pediatrics, University of Wisconsin, Madison (Ms Certain and Dr P. M. Farrell).
Corresponding author and reprints: Michael H. Farrell, MD, Internal
Medicine and Pediatrics Residency Program, Yale University School of Medicine,
333 Cedar St, Room LMP 1074, New Haven, CT 06520-8086 (e-mail: Michael.Farrell{at}yale.edu).
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