Talk Description
Institution: Children's Health Queensland - Queensland, Australia
Aims:
To understand the personal and clinical utility of genomic testing for childhood hearing loss, and the barriers and facilitators for implementation of Medicare funded testing from the perspectives of consumer, clinical, and laboratory stakeholders.
Methodology:
Consumers were invited to participate through a Deaf Children Australia mailing list and snowballing, while clinical, laboratory and genetics policy stakeholders were purposively invited based on subject expertise. Semi-structured interviews were completed with consumers, clinical laboratory scientists, policy stakeholders, ENTs, genetics clinicians, paediatricians, speech pathologists and audiologists. Deductive content analysis was performed to capture barriers and facilitators with all stakeholders and thematic analysis provided insight into personal utility for consumers.
Results:
38 interviews were conducted (10 consumers, 6 scientists, 5 policy stakeholders, 4 ENTs, 5 genetics clinicians, 5 paediatricians, 2 speech pathologists and 2 audiologists). Consumers reported that the service pathway for isolated hearing loss diagnosis was well delineated and supportive. Syndromic hearing loss was associated with additional challenges including greater uncertainty and ambivalence. Perceived personal benefits from genetic testing included enhanced coping, greater clarity regarding aetiology and prognosis. Clinicians felt that genetic diagnoses informed clinical management. Clinical and laboratory stakeholders reported that the Medicare rebate was insufficient to cover costs and clinicians felt that upskilling was needed to enhance confidence and staff support could offset the time required for consenting and results disclosure.
Conclusion:
There was a consensus that higher Medicare rebates are necessary to cover testing costs. Genetic testing offers personal utility to consumers and clinical utility to clinicians. However, greater supports are needed to overcome the practicalities of integrating testing into paediatric and ENT clinics.
Presenters
Authors
Authors
Dr Karen Liddle - , Ms Hannah Byrne - , Ms Lucy Burbury - , Dr Rachael Beswick - , A/Prof Valerie Sung - , A/Prof Aideen Mcinerney-Leo -
