Our research study will investigate how genomic information may benefit and assist in providing care and management of newborns with hearing loss. By participating in our study, you will be helping us to:
- Learn how genomic information can be used, along with the standard of care treatment, in making decisions and diagnoses for newborns with hearing loss.
- Understand the initial and evolving opinions of parents toward genomic sequencing .
Three Harvard Medical School affiliated hospitals, Brigham and Women’s Hospital (BWH), Boston Children’s Hospital (BCH), and the Massachusetts Eye and Ear (MEE) are participating in SEQaBOO. The newborn’s biological parent(s) will be included in SEQaBOO to facilitate interpretation of possible genetic variants relevant to the child’s hearing loss.
(1) Brigham and Women’s Hospital: Newborns who do not pass the newborn hearing screen will be enrolled prior to leaving the hospital, along with their parents, for whole genome sequence analysis and annual health and well-being surveys.
(2) Boston’s Children’s Hospital: Babies who do not pass the follow-up clinical audiology test at approximately 1 month of age will be enrolled, along with their parents, for whole genome sequence analysis and annual health and well-being surveys.
(3) Massachusetts Eye and Ear: Babies who do not pass the follow-up clinical audiology test at approximately 1 month of age will be enrolled, as well as their parents, for annual health and well-being surveys.
Aim1: Perform whole genome sequencing (WGS) to identify the full spectrum of pathogenic variants in hearing loss genes in newborns and for those who opt-in, additional genetic information (secondary findings) in the ACMG-59 current list of genes with actionable variants.
Aim 2: Explore integration of genomic sequencing results alongside standard of care management for newborns with hearing loss and ascertain its clinical impact through annual surveys that will explore general health, speech and language development.
Aim 3: Survey parents of newborns who do not pass hearing screening for initial and evolving attitudes and knowledge of genomic medicine.
SEQaBOO’s support come from grants funded through The National Institutes of Health and The National Institute of Deafness and Communication Disorders.