2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Comprehensive Newborn Hearing Screening in Generation Genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)

Pdf Summary

The study titled "Comprehensive Newborn Hearing Screening in Generation Genome through SEQaBOO" aims to determine the impact of knowing the genetic cause of hearing loss on future clinical care for newborns. The study also investigates parents' knowledge of genome sequencing and factors influencing their decision to participate in genomic research. Annual follow-up surveys are conducted to identify any later onset hearing impairments or delays in speech and language development. The study also aims to establish best practices for integrating genome sequencing into routine newborn screening and to initiate discussions with policymakers and stakeholders on clinical implementation.<br /><br />The study enrolls families whose babies did not pass the newborn hearing screen or failed their confirmatory audiology assessment. Two groups are included in the study: one group undergoes genomic sequencing, while the other group only participates in surveys. The genomic sequencing group has their blood specimens sent to the Broad Institute for sequencing, and the results are communicated to the baby's otologist for confirmation. If no hearing loss variants are identified, a larger panel of hearing-related genes is analyzed.<br /><br />Preliminary results show that 5% of participants had positive results for pathogenic or likely pathogenic variants in genes considered medically important. Inconclusive cases were characterized by either a single pathogenic variant or a variant of uncertain significance in genes associated with recessive deafness. Feedback from parental surveys has been positive, with 63% of parents acknowledging that participating in genome sequencing helped them understand their child's hearing loss.<br /><br />Overall, the study aims to improve understanding and diagnosis of hearing loss in newborns through comprehensive genomic screening and regular follow-up surveys.

Asset Subtitle

Presenting Author - Anne B. Giersch, PhD; Co-Author - Sami S. Amr; Co-Author - Kevin T. Booth, PhD; Co-Author - Matthew Hoi Kin Chau, PhD; Co-Author - Yvonne I. Chekaluk, MS; Co-Author - Richard Choy, PhD; Co-Author - Michael S. Cohen, MD; Co-Author - Elvis Dong, PhD; Co-Author - Jennifer Hochschild, PhD; Co-Author - Margaret A. Kenna, MD; Co-Author - Lauren McGrath, AuD; Co-Author - Caroline O. Mitchell, MS; Co-Author - Julia Perry, MS; Co-Author - Aiden E. Shearer, MD; Co-Author - Jun Shen, PhD; Co-Author - Matthew Stenerson, BS; Co-Author - Cynthia C. Morton, PhD, FACMG;

Meta Tag

Auditory System

Chromosomal Abnormalities

Genome sequencing

NextGen Sequencing

Population Genetics

Co-Author Sami S. Amr

Co-Author Kevin T. Booth, PhD

Co-Author Matthew Hoi Kin Chau, PhD

Co-Author Yvonne I. Chekaluk, MS

Co-Author Richard Choy, PhD

Co-Author Michael S. Cohen, MD

Co-Author Elvis Dong, PhD

Co-Author Jennifer Hochschild, PhD

Co-Author Margaret A. Kenna, MD

Co-Author Lauren McGrath, AuD

Co-Author Caroline O. Mitchell, MS

Co-Author Julia Perry, MS

Co-Author Aiden E. Shearer, MD

Co-Author Jun Shen, PhD

Co-Author Matthew Stenerson, BS

Co-Author Cynthia C. Morton, PhD, FACMG

Presenting Author Anne B. Giersch, PhD

Keywords

Newborn Hearing Screening

Generation Genome

SEQaBOO

Genetic Cause of Hearing Loss

Clinical Care for Newborns

Genome Sequencing

Parents' Knowledge

Factors Influencing Decision

Confirmatory Audiology Assessment

Medically Important Genes