New publication alert!
Congenital hearing loss affects around 1–2 in every 1000 babies born in Australia, and around half of childhood hearing loss has a genetic cause. Yet despite strong evidence supporting genomic testing, access remains limited.
In this newly published article, we highlight the gap between Medicare funding for genomic testing and the real-world barriers preventing families from accessing it, including insufficient laboratory funding, long waitlists, and limited access to genetic counselling.
For children with genetic causes of hearing loss, including conditions such as Usher syndrome, early genomic diagnosis is critical. It helps families:
• understand prognosis
• access appropriate supports sooner
• inform reproductive decisions
• prepare for future health needs
• connect with relevant research and clinical trials
Australia has taken an important step by introducing Medicare funding for exome sequencing, but funding a test alone is not enough. Without adequate support for laboratories and genetic counselling services, many families remain unable to access timely testing.
Children and families deserve equitable access to early, accurate diagnosis.
Many thanks to lead author Emma McGonigal, GP and fierce parent advocate, for leading the charge on this important topic.
Read the publication: https://onlinelibrary.wiley.com/doi/10.5694/mja2.70158
.
Recent Comments