Improving genetic counseling access for parents of newborns who screen
positive for cystic fibrosis: consensus guidelines
Abstract
Introduction A risk associated with cystic fibrosis newborn screening
(CFNBS) is parental misunderstanding of genetic information generated by
the over 6,600 positive screens reported annually in the US. CFNBS
algorithms incorporating DNA analysis can generate genetic information
that requires clinical interpretation and has significance for the
newborn, parents, and other relatives. Engagement between CF care
centers and trained genetic counseling providers, such as licensed
and/or certified genetic counselors (GCs), is variable and limited in
providing information to CFNBS positive (CFNBS+) families. Methods Using
a modified Delphi process, a workgroup of CF experts developed
recommendations for engagement of genetic counseling services in CF care
centers where CFNBS+ diagnostic evaluations are performed. Statements
were assessed over three rounds of surveys, one face-to-face meeting,
and through public feedback. Results Seventeen statements achieved
>80% consensus (range: 82-100%). The workgroup affirmed
prior CFF policy statements recommending genetic counseling for parents
of infants with CFNBS+. The remaining statements addressed
infrastructure and logistics of genetic counseling services, including
defining appropriate training for genetic counseling providers and
counseling content, establishing a path to equal access to genetic
counseling providers across CF care centers, and setting a standard for
client-centered CFNBS genetic counseling that is respectful of diverse
patient needs and autonomy. Conclusions Implementation of
client-centered genetic counseling for CFNBS+ families in CF care
centers by providers with expertise in both CF and genetic counseling
will require efforts to further define core concepts, enhance education
of providers, and develop opportunities for access via telemedicine.