Access to genomic testing to reduce the exhausting journey of rare disease diagnosis in children

A movie star, doctors, advocacy groups and patients are joining forces today to urge healthcare professionals, hospitals and policy makers to prioritise the diagnosis of kids and teens with suspected rare diseases, through improved access to genomic testing.

L.A.-based star of the Golden Globe-winning The Greatest Showman, living with a rare genetic disease, Sam Humphrey, 25, is issuing a personal plea today, ahead of Rare Disease Day (February 29, 2020), “for improved access to genetic services, to help minimise the long, diagnostic journey unnecessarily endured by so many.”

According to MJA Insight article co-author and Deputy Clinical Director, Victorian Clinical Genetics Service (VCGS), Associate Professor Sue White, Melbourne, genomic testing enables a diagnosis in up to one-in-two patients with a suspected rare genetic disease.

“Rare diseases are complex disorders, which are often progressive, can be life-threatening and are almost always incurable. Tragically, up to 30 per cent of those with a rare disease will die before the age of five. It can take between five to 10 years from presentation of symptoms, to diagnose a rare disease. On average, patients see more than seven doctors before an accurate diagnosis is made,” said A/Prof White.

A/Prof White told Health Industry Hub that although there is strong evidence to support the non-invasive genomic testing in rare disease diagnosis, funding and access to genomic testing varies from state to state in Australia. Genomic testing would cost a patient’s family $2,000 – $4,000 which many cannot afford when you add the overall costs associated with their disease.

“The goal is to raise awareness and drive change by advocating for a national approach to genomic testing to enhance patient access and ultimately patient outcomes.

“Ongoing advances in genetic testing and our increased understanding of the human genome are resulting in more precise and accurate diagnoses of rare diseases,” said A/Prof White.

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Having spent the first six weeks of his life in an incubator, it wasn’t until Sam was three years of age that he was diagnosed with the rare genetic disease, acrodysplasia, which causes delayed development and difficulty breathing.

“When I was in high school, I learned that my doctors didn’t foresee me living past the age of 18. I put on a brave face, but underneath, I felt hopeless, lost and insecure. I questioned whether my life was worth living.

“Now, however, at the age of 25, having acted alongside my childhood hero, Hugh Jackman, in The Greatest Showman, I am a passionate advocate for those living with rare diseases and disabilities,” Sam said.

One in 12 Australians are living with any one of the 6,000 to 8,000 known rare diseases, with new diseases identified each week.

“Genomic testing can often prevent the need for invasive and expensive investigations, such as muscle biopsy and lumbar puncture,” said Executive Director, Genetic Alliance Australia, Jan Mumford, Sydney.

Chief Executive Officer and Founder of Syndromes Without a Name (SWAN) Australia, Heather Renton, Melbourne, said “Individuals and families affected by rare diseases often need to ‘reframe’ their lives, whether making a shift in career path, assuming a carer role, or relocating to secure better access to treatment and/or management.

“Receiving a diagnosis can link patients, their families and carers with other similarly affected families, provide a sense of community, and importantly, help them navigate support systems, such as the National Disability Insurance Scheme (NDIS).”

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