NYMC Faculty Publications

Genetic Counseling Access and Service Delivery in New York State Is Variable for Parents of Infants With Complex CFTR Genotypes Conferring Uncertain Phenotypes

Denise M. Kay, Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Hossein Sadeghi, Columbia University Irving Medical Center, New York City, New York, USA.
Catherine Kier, Department of Pediatrics, Renaissance School of Medicine at Stony Brook University, Stony Brook, New York, USA.
Maria Berdella, Lenox Hill Hospital, Northwell Health System, New York City, New York, USA.
Joan K. DeCelie-Germana, Cohen Children's Medical Center, Northwell Health System, New Hyde Park, New York, USA.
Zafer N. Soultan, Division of Pediatric Pulmonary Medicine, Department of Pediatrics, Upstate Medical University, Syracuse, New York, USA.
Danielle M. Goetz, Children's Hospital of Buffalo, Buffalo, New York, USA.
Michele Caggana, Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Christopher N. Fortner, Division of Pediatric Pulmonary Medicine, Department of Pediatrics, Upstate Medical University, Syracuse, New York, USA.
Robert Giusti, NYU Langone Health, New York City, New York, USA.
Robert Kaslovsky, Department of Pediatrics, Albany Medical College, Albany, New York, USA.
Colleen Stevens, Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Karen Voter, Strong Memorial Hospital, University of Rochester Medical Center, Rochester, New York, USA.
John J. Welter, Division of Pediatric Pulmonology, New York Medical College, Valhalla, New York, USA.

Author Type(s)

Faculty

DOI

10.1002/ppul.27023

Journal Title

Pediatric Pulmonology

First Page

1952

Last Page

1961

Document Type

Article

Publication Date

7-1-2024

Department

Pediatrics

Abstract

BACKGROUND: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs). AIMS: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers. RESULTS: Overall, 194/289 (67.1%) had CFTR phasing to confirm whether the infant's CFTR variants were in cis or in trans. Eighteen complex alleles were identified in cis; known haplotypes (p.R117H+5T, p.F508del+p.L467F, and p.R74W+p.D1270N) were the most common identified. Thirty-two infants (16.5%) with all variants in cis were reclassified as CF carriers rather than CRMS/CFSPID. Among 263 infants evaluated at an NYS SCC, 70.3% were reported as having received genetic counseling about their results by any provider, with 96/263 (36.5%) counseled by a certified genetic counselor. CONCLUSION: Given the particularly complex genetic interpretation of results generated by CFNBS algorithms including sequencing analysis, additional efforts are needed to ensure families of infants with a positive CFNBS result have CFTR phasing when needed to distinguish carriers from infants with CRMS/CFSPID, and access to genetic counseling to address implications of CFNBS results.

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