Genetics Testing
About 1 in 500 infants is born Deaf or Hard-of-Hearing or develops a hearing status during early childhood. Additionally, roughly 90% of children who are born Deaf or Hard-of-Hearing are born to hearing parents.
Deafness has many causes: genetic (caused by a baby’s genes) or non-genetic (such as certain infections the mother has during pregnancy or conditions the newborn baby has). A combination of genetic and non-genetic factors also can cause deafness. For many babies, the cause is unknown.
The American Society for Deaf Children believes that the best decisions made for Deaf and Hard-of-Hearing children are those made by the child’s parents and guardians. Parents have the right and the responsibility to be primary decision-makers and advocates for their Deaf and Hard-of-Hearing children, and to do this, they need access to accurate and current information, educational opportunities, and support for this role.
The resources provided here by ASDC are from trusted sources and are meant to provide support and references for you and your family. This is not an all-inclusive list; there are many resources available. Additionally, ASDC does not offer therapeutic or medical advice regarding genetic testing or whether or not it should be done. However, your ability to make qualified and informed decisions about your child’s health is important to us, and we want to provide the best support we can give. Please research these and other resources to find the best fit for your needs.
Resources will be updated often. Please check back from time to time.
Testing Programs
Sponsored, no-cost genetic testing programs available for qualified participants with hearing loss
Decibel Therapeutics partners with PreventionGenetics and Genome Medical to offer sponsored, no-cost genetic counseling and testing for those who qualify. Amplify™ includes both clinician-initiated as well as parent-initiated testing. To learn more, please visit: https://www.
Clinical Trials
Akouos
To learn more about the Akouos gene therapy clinical study for individuals with hearing loss caused by changes in the otoferlin gene, the clinical research, and the study site locations, please visit www.otofclinicaltrial.com.
Decibel Therapeutics
To learn more about Decibel Therapeutics’ gene therapy clinical trial for children with hearing loss caused by specific genetic changes, or mutations, in the otoferlin gene (OTOF), please visit https://www.clinicaltrials.
More Resources
The CDC and the National Institute on Deafness and Other Communication Disorders recommend the following resources and are not necessarily the opinion of the American Society for Deaf Children.
National Center on Deafness and Other Communication Disorders: https://www.nidcd.nih.gov/
National Center on Birth Defects and Developmental Disabilities Parent Guide to Genetics & Hearing Loss https://www.cdc.gov/ncbddd/hearingloss/freematerials/parentsguide508.pdf
National Institute on Deafness and Other Communication Disorders at http://www.nidcd.nih.gov/health/hearing/
U.S. Department of Health and Human Services has a guide that explains genes and genetic testing at http://www.accessexcellence.org/AE/AEPC/NIH/index.html
The Genetic Science Learning Center has some information about basic genetics, genetic conditions, and genetic counseling at http://learn.genetics.utah.edu/
Cold Spring Harbor Labs has a tutorial about genetics that is a little more in-depth than those at some of the other sites. It can be found at http://www.dnaftb.org/dnaftb/
NIH Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
The Hereditary Hearing Loss gives an up-to-date overview of the genetics of hereditary hearing loss for researchers and clinicians working in the field. This site can be found at: http://hereditaryhearingloss.org/
For more information on Early Hearing Detection and Intervention, visit http://www.cdc.gov/ncbddd/hearingloss/index.html
