Newborn Genetic Screening in the Early Identification of GJB2 and SLC26A4-Related Hearing Losss

Sunday, September 29, 2024

8:42 AM – 8:48 AM EDT

Location: MBCC, 225

Disclosure(s):

Emily R. Wener, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Sharon L. Cushing, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Karen A. Gordon, PhD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Introduction: This study aimed to assess the added benefit of newborn genetic screening for GJB2 and SLC26A4 variants in conjunction with newborn hearing screening. Hearing screening at birth is essential for early identification of hearing loss and subsequent intervention to optimize language development. Whereas most hearing screening relies solely on tests of auditory function, the province of Ontario also includes universal testing of specific gene variants associated with hearing loss in GJB2 and SLC26A4.

Methods: Children with known variants of GJB2 and SLC26A4 were selected from 485 children with hearing loss who underwent testing with Next Generation Sequencing (NGS) at a tertiary pediatric hospital, between January 2015 and February 2018, prior to the implementation of the provincial expanded newborn hearing screening that included universal screening for genetic etiologies of hearing loss. Children with two pathogenic or likely pathogenic variants of GJB2 or SLC26A4 were considered to have a genetic etiology of hearing loss. The NGS genetic data in identified children were then compared to the list of gene variants included in the expanded universal genetic screening. Their newborn hearing screening results were also reviewed.

Results: NGS testing revealed 35 children with GJB2 or SLC26A4-associated genetic hearing loss (n = 27 GJB2-HL; n = 8 SLC26A4-HL). Of these children, 20 (57%) were identified by newborn hearing screening (14/27 52% GJB2-HL; 6/8 75% SLC26A4-HL). Half (50%) of children identified by newborn hearing screening would have also been identified by genetic screening (9/14 64% GJB2-HL; 1/6 17% SLC26A4-HL). A further group of children who passed their newborn hearing screen but went on to develop hearing loss would have been identified by the current newborn genetic screening protocol (3/6 GJB2-HL; 0/2 SLC26A4-HL).

Conclusions: The combination of genetic and hearing screening modalities in Ontario’s expanded newborn hearing screening program improves early identification of children with hearing loss through increased identification of children with GJB2-hearing loss.

Presenting Author(s)

Emily R. Wener, MD

Resident
University of Ottawa
Ottawa, ON, Canada

Disclosure(s):
faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Co-Author(s)

Sharon L. Cushing, MD

Staff Otolaryngologist, Assistant Professor
University of Toronto
Toronto, ON, Canada

Disclosure(s):
faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.
Blake C. Papsin, MD

Otolaryngologist-in-Chief
Hospital for Sick Children OTO
Toronto, Ontario, Canada

Disclosure information not submitted.
JS

James Stavropoulos, PhD

Genome Diagnostics Paediatric Laboratory Medicine, Clinical and Metabolic Genetics, The Hospital for Sick Children, USA

Disclosure information not submitted.
RM

Roberto Mendoza, MD, MSc

Genome Diagnostics Paediatric Laboratory Medicine, Clinical and Metabolic Genetics, The Hospital for Sick Children, USA

Disclosure information not submitted.
NQ

Nada Quercia, MSc

Division of Clinical & Metabolic Genetics, The Hospital for Sick Children; Department of Genetic Counselling, The Hospital for Sick Children; Department of Molecular Genetics, The Hospital for Sick Children, USA

Disclosure information not submitted.
Karen A. Gordon, PhD

Professor, Audiologist
Archie’s Cochlear Implant Laboratory, Neuroscience & Mental Health, Hospital for Sick Children
TORONTO, ON, Canada

Disclosure(s):
faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Senior Author(s)

Karen A. Gordon, PhD

Professor, Audiologist
Archie’s Cochlear Implant Laboratory, Neuroscience & Mental Health, Hospital for Sick Children
TORONTO, ON, Canada

Disclosure(s):
faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.