Beginning 22 September 2021, Blueprint Genetics and Akouos, Inc. are enhancing the accessibility of the Resonate Program by offering healthcare providers an online ordering option for eligible individuals with a clinical diagnosis of auditory neuropathy in the United States.
Congenital hearing loss is recognized as a potential neurodevelopmental emergency by the American Academy of Pediatrics. The majority of cases of congenital hearing loss are due to an underlying genetic cause. 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.
With the availability of online ordering, healthcare providers across the United States can order genetic testing for eligible individuals via Blueprint Genetics online portal, Nucleus. After testing has been completed, participating individuals are offered genetic counseling to review the results. These optional genetic counseling sessions are provided via telehealth by InformedDNA and are comprehensive, with a review of medical and family history, interpretation of any identified genetic variants, correlation with condition, and medical management recommendations. The program’s genetic testing and genetic counseling are sponsored by Akouos, and provided at no cost to eligible participants, their insurance, or their healthcare provider.
“The majority of congenital hearing loss in the US and Europe is sensorineural hearing loss due to genetic causes. Genetic testing is critically important, as it may help inform medical management and decision making. We are pleased to offer healthcare providers enhanced access to genetic testing for eligible individuals with auditory neuropathy in partnership with Blueprint Genetics and InformedDNA”, says Michael McKenna, MD, Chief Medical Officer and Co-founder at Akouos, Inc.
“Genetic testing is an important component of the evaluation of hearing loss. When we know the genetic cause, individuals can better understand their condition and opportunities for medical management. By offering healthcare providers enhanced access to high-quality genetic testing combined with expert genetic counseling, we hope to empower many more individuals to make informed choices regarding their health,” says Tero-Pekka Alastalo, MD, PhD, Executive Medical Director at Blueprint Genetics.
To increase diagnostic yield, the 239-gene panel offered as part of the program includes the mitochondrial genome, difficult-to-sequence genes, and 112 known pathogenic deep intronic variants. High-resolution copy number variant (CNV) analysis is also an important addition, as CNVs are identified in approximately 20% of all deafness-causing genes.
For more information, please visit: blueprintgenetics.com/resonate-program
To learn more about the Resonate Program, please be sure to register for our upcoming webinar, “Resonate: A Program to Improve Access to Genetic Testing and Genetic Counseling for Hearing Loss”.