Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen‐positive diagnostic resolution process

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Abstract
Families of infants with a positive newborn screen for cystic fibrosis (CFNBS+) have well‐characterized genetic counseling needs, including understanding the implications of diagnostic categorization. However, degree of involvement of genetic counselors (GCs) in the CFNBS+ diagnostic resolution process varies. This project explored GC engagement with US CF care centers in the diagnostic resolution process for CFNBS+ infants. Surveys were emailed to 713 Cystic Fibrosis Foundation‐accredited CF center directors and clinic coordinators and 4,517 GCs. Respondents from institutions providing CFNBS+ diagnostic resolution were categorized by level of engagement between the CF center and GC: GC is part of or embedded in CF center (GC‐engaged); GC is independent of CF center but receives CFNBS+ referrals (GC‐referral); GC is uninvolved (non‐engaged)] in CF center or CFNBS+ diagnostic resolution process. Responses from 125 CF center directors and clinic coordinators (17.5%) and 174 GCs (3.8%) were received. Analysis targeted responses from 84 center directors and clinic coordinators and 52 GCs, estimated to represent 24%–48% and 29% of 175 pediatric CF care centers, respectively. Nearly 40% of CF center directors or clinic coordinators never refer CFNBS+ infants to GCs. Respondents from GC‐engaged CF centers reported that GCs provide unique and valuable services, understand CF at a high level, improve efficiency of the CFNBS+ diagnostic resolution process, and should be part of the CF care team; respondents from non‐engaged CF centers reported negative views of GCs’ value and knowledge (all p < .05). GCs engaged with CF centers were more likely to report that their services were valued by and accessible to CF centers (both p < .05). At all levels of engagement with CF centers, GCs were comfortable discussing CF genotype–phenotype correlation, variants of unknown significance, quality of life, and therapies. These results highlight a need to address practice variation in CFNBS+ genetic counseling and improve access to GCs’ services.
Funding Information
  • Cystic Fibrosis Foundation

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