(151) Variable genetic counseling access and services for parents of infants who screen positive for cystic fibrosis in New York State

Background: The Cystic Fibrosis Foundation (CFF) has endorsed guidelines recommending genetic counseling by a provider trained in genetics and with expertise in CF for all families of infants with a positive CF newborn screening (CFNBS) result [1]. The New York State (NYS) CFNBS Consortium has spearheaded an ongoing quality improvement effort to characterize the processes of the NYS CF NBS program and CF Specialty Care Centers (SCCs), with a goal of improving outcomes and access to care for referred infants with abnormal CFNBS results. NYS utilizes a 3-tier IRT-DNA-SEQ algorithm for CFNBS; infants with 2 or more CFTR variants of potential clinical relevance are referred for follow-up to an SCC. Infants with one CFTR variant are not referred to a SCC. As the NYSDOH reports complex genetic information that requires interpretation and counseling about its implications, we sought to establish baseline rates of genetic counseling provided to parents of infants with CF Screen Positive, Inconclusive Diagnosis/CFTR-related Metabolic Syndrome (CFSPID/CRMS) or CF carrier status.

Methods: As part of a longer-term follow up effort by the NYS NBS Program and SCCs, a clinical and demographic dataset was compiled for infants referred between December 1, 2017 and November 30, 2021. Genotypes and CFTR phasing data were abstracted from NBS records. Demographic and clinical data, including information about provision of genetic counseling services, were requested from each SCC and tabulated to assess genetic counseling rates. Infants with a positive CFNBS (elevated IRT and >1 CFTR variants, with one or more variants of uncertain significance (VUS) or varying clinical consequence (VCC)), were included in this analysis. Infants classified as having CF were excluded. This project was determined to be exempt by the NYS Department of Health (DOH) IRB.

Results: Of 290 infants meeting study criteria, 273 (94.1%) were evaluated at least once. Of those, 225 were subsequently classified as having CFSPID/CRMS or as CF unlikely/CF carrier. Parental phasing studies confirmed all CFTR variants were in cis for 32 infants or the second variant was reclassified as non-CF-causing (n=16). SCCs reported that 97/273 (35.5%) of families were seen by a trained genetic counselor. CF physicians provided genetic counseling to 51 families (18.7%). Genetic counseling was not provided to 79 families (28.9%); data was not reported for 46 families (16.8%). Reasons provided for lack of genetic counseling include: a genetic counselor was not available (n=15), knowledge of family history via prior child/prenatal testing (n=3), infant was adopted or in foster care (n=2), and family declined (n=9). Genetic counseling rates at NY CF centers for this population ranged from 0-100%.

Conclusions: Genetic counseling is provided inconsistently to parents of infants with a positive CFNBS result in New York State; in nearly one-third of cases where genetic counseling was noted, it was provided by the CF physician. Inaccessibility of a genetic counselor was the primary reason given when genetic counseling was not performed. Additional efforts are needed to address access barriers to implement CFF recommendations regarding genetic counseling for parents of infants with a positive CFNBS result.

Acknowledgements:

References: Langfelder‐Schwind E, Raraigh KS, Parad RB, Balcom JR, Birnbaum VK, Darrah R, et al. Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: Consensus guidelines. Pediatric Pulmonology. 2022;57(4):894–902.