The ResonateTM Program provides genetic testing, and optional genetic counseling to review testing results, for eligible individuals of any age with a clinical diagnosis of auditory neuropathy, or a medical history consistent with auditory neuropathy, at no cost to the healthcare provider, participant, or participant’s insurance.
The program is available in the United States and is sponsored by Akouos, Inc. Genetic testing for eligible individuals is performed at Blueprint Genetics and optional genetic counseling services to the results are available through InformedDNA, a national provider of genetic counseling in the United States. The genetic testing panel can be easily ordered by healthcare providers through the Blueprint Genetics online portal, Nucleus.
Interested in learning more? Register for our Resonate Program webinar.
- A genetic diagnosis can lead to better insight to help guide medical management and decision-making, as well as determine potential eligibility for clinical studies or future clinical trials.
- Access to Blueprint Genetics Resonate Program Panel, one of the most comprehensive available tests of its kind, may provide program participants the ability to receive a genetic diagnosis.
- Genetic counseling to review results is available through the program by InformedDNA, at no cost to the healthcare provider, participant, or participant’s insurance. These optional sessions are provided via telehealth.
- Has a current or prior clinical diagnosis of auditory neuropathy or a medical history consistent with auditory neuropathy*.
- Has OAE and/or CM present, or previously present, with absent or abnormal ABR.
- Does not have evidence of a syndromic medical history.
- Must live in the United States in order to access the
optional genetic counseling.
*Auditory neuropathy is a hearing disorder characterized by an absent or abnormal auditory brainstem response (ABR) with preservation of otoacoustic emissions (OAEs) and/or cochlear microphonics (CMs).
Blueprint Genetics 288-gene Resonate Program Panel is one of the most comprehensive available tests to potentially determine the underlying cause of genetic forms of hearing loss.
The test includes analysis of:
- High-resolution copy number variants (CNVs)
– CNVs are identified in approximately 20% of all deafness-causing genes
- The entire mitochondrial (mt) genome
– 1% to 3% of non-syndromic hearing loss is associated with mtDNA mutations
- 132 known pathogenic deep intronic variants
During the test requisition process, the healthcare provider will have the opportunity to request genetic counseling through the program by InformedDNA to help participants understand their genetic testing results at no cost to the healthcare provider, participant, or participant’s insurance.
- This is an optional service and only available in the United States.
- The sessions by InformedDNA include a comprehensive review of genetic testing results, including interpretation of identified genetic variants, a review of medical and family history, and medical management recommendations (if applicable).
- Following the session, program participants and healthcare providers receive a formal summary report prepared by the genetic counselor.
Informed consent and data sharing
Eligible individuals who wish to participate in the Resonate Program are required to provide Informed Consent.
- The genetic testing provider, Blueprint Genetics, will only share deidentified data with Akouos, Inc. These data are limited to the clinical diagnosis or diagnoses, year of birth, sex, and genes and variants associated with a clinical diagnosis of auditory neuropathy. No identifiable information or raw sequence data from program participants will be shared.
- We may share information about the ordering healthcare provider, such as contact information, with Akouos, Inc.
- Blueprint Genetics may use the samples and data internally to improve the understanding and diagnostics of genetic forms of hearing loss. No samples or identifiable research data will be shared with third parties without express permission from the participant.
- Information from optional genetic counseling sessions is not shared with Akouos, Inc.
Akouos is a precision genetic medicine company dedicated to developing gene therapies with the potential to restore, improve, and preserve high-acuity physiologic hearing for individuals living with disabling hearing loss worldwide. Leveraging its precision genetic medicine platform that incorporates a proprietary adeno-associated viral (AAV) vector library and a novel delivery approach, Akouos is focused on developing precision therapies for forms of sensorineural hearing loss. Headquartered in Boston, Akouos was founded in 2016 by leaders in the fields of neurotology, genetics, inner ear drug delivery, and AAV gene therapy. www.akouos.com
About Blueprint Genetics
Blueprint Genetics, a Quest Diagnostics company, is a leading specialty genetics and bioinformatics company focused on providing genetic testing for inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70 countries. www.blueprintgenetics.com
Copyright © 2021 Blueprint Genetics. All trademarks are property of their respective owners. RESONATE is a trademark of Akouos, Inc.