Genomic testing for an individual and family history of deafness

Speakers:

Rachel Belk, Registered Genetic Counsellor, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust.

Sarah Stewart, Certified Genetic Counsellor, Manchester Centre for Genomic Medicine.

Leanne Barrett, Pre-registration Genetic Counsellor, North East Thames Regional Genetics Service

Team supported by North-West Genomic Medicine Service Alliance (NW GMSA) and North Thames Genomic Medicine Service Alliance (NT GMSA).

Webinar content:

Clinicians specialising in audiology have played a key role for decades in investigating the aetiology of deafness in the children and families they see. Until recently, genetic testing has been a small part of the available agreed investigations, with Connexin 26/Connexin 30 screening the only routine test, and the testing of a limited number of other genes being possible if additional signs suggest a syndromic genetic cause. The development of next generation sequencing techniques, with many genes being tested in parallel as part of a ‘panel test’, has allowed expansion of the available testing for deafness to over a hundred genes. Previously, the service availability of a panel test for deafness was limited, expensive for individual clinicians to fund and there was a long wait for results. The introduction of the National Genomic Test Directory in England has standardised the criteria for the deafness panel test, which went live in April 2021, clarified which clinicians can request the test (including audiologists) and is funded centrally by NHS England.

It is impossible for genomic medicine services to see all children and families eligible for testing, and therefore we are working with clinicians in many disciplines, from cardiology to ophthalmology to renal medicine, as they become familiar with requesting and interpreting genomic testing. This lecture aims to give an overview of the technology, availability, interpretation of results and, most importantly, implications for families. We will discuss the information that can help families make an informed decision, the practicalities of arranging testing, and the consent and confidentiality implications of genomic testing.

The webinar aims to support audiologists whose work involves the aetiological investigation of hearing loss, but may be of interest to all audiologists wanting to understand the developments in genomic testing. Its content is similar to other sessions run by this team, which include the consultants leading on deafness within the two clinical services in England where testing is carried out. Some audiologists have been present at sessions run for BAAP, BAPA and ENT UK, but this is the first run specifically for audiologists. It is appropriate that the genetic counsellors teaching the session are, like audiologists, specialist non-medical clinicians working closely with their medical colleagues. There will be time scheduled for Q&A and discussion.

This webinar is also an ideal underpinning for a face-to-face seminar that will be held in Manchester on Friday 28.04.23 to present development work and outcomes, lessons learned, and future plans based on the first two years of NHS genomic testing for deafness. Manchester Seminar Flyer