Improving the patient journey for rare genetic diseases

Improving the patient journey for rare genetic diseases

image of baby's hand in adult's

The benefits of a new precision medicine initiative, being piloted at Sydney Children’s Hospitals Network (SCHN), are already being seen in children and families with rare genetic diseases.

The program, Gene2Care, aims to improve the standard of care, including enhanced diagnoses and access to management and treatment. The family-centred program, funded by Luminesce Alliance, combines the efforts of Clinical Geneticists and Genetic Counsellors across SCHN, while collaborating with world-leading experts in genomics.

Rare diseases have a huge impact on the health of the nation, affecting about 300,000 children in Australia. There are 7,000 rare diseases, but each condition may only affect a small number of individuals, often making them hard to diagnose. Even after a diagnosis a family’s doctor may not have heard of the condition, creating a barrier to support and management.

“Collectively rare diseases are more common than diabetes. Families spend years not knowing why their child is sick and even after a diagnosis, they could be the only one in Australia with the condition,” said Dr Emma Palmer, Clinical Geneticist at Sydney Children’s Hospital, Randwick (SCH). 

The first step of the process is a consented database of patients called GeneSTART, being piloted at SCH. It involves recording patient details, their test results and whether they are interested in participating in research programs or being contacted about support resources. The collated information can then be shared to allow families with genetic conditions to connect or used as a springboard for international collaboration on research.

“We are exploring what key outcomes matter most to families and clinicians. So far, families are telling us they really appreciate the opportunity to be kept up to date with research and be part of collaborative efforts to get better solutions for rare disease kids globally,” said Ryan Pysar, Research Genetic Counsellor at SCH.

More than half of the children suspected of having a genetic condition don’t get an answer. On average, the wait to receive a diagnosis is six years and within this time there are often two or three misdiagnoses. For these families there is renewed hope through GeneAdd, a component of Gene2Care recruiting families across SCHN. GeneAdd is a way of putting children in the best possible position to get a diagnosis. It involves enabling research and allowing access to existing or future genomic technologies, locally, across Australia and even leveraging international efforts.

“Ten years ago we would diagnose about 10 to 20 per cent of our patients. That’s now jumped to 40 to 50 per cent. We’re still short of achieving 100 per cent, so there’s a constant push to find new ways of getting answers for our patients,” said Dr Alan Ma, Clinical Geneticist at The Children’s Hospital at Westmead (CHW). 

The demand for genetics and genomics has boomed over the past decade. Driving this demand is the availability of gene therapies and advanced therapies for incurable childhood diseases, including Spinal Muscular Atrophy and blinding eye conditions. These therapies were both pioneered at SCHN where Australia’s first TGA-approved gene therapy, LUXTURNA, was administered last year. As treatments become a reality, the need to achieve a precise genetic diagnosis grows.

“Everything is changing really rapidly and the clinical work we do is just taking off. It’s getting incredibly busy and we want to make sure we have the correct systems and services in place to be able to offer the best genetic care to our patients,” said Dr Alan Ma.

The benefits of the Gene2Care are already being seen through GeneSTART and GeneADD. However, there is more work to be done to ensure the program can best support all families in an accessible and inclusive manner. 

“There’s a lot of inequity in terms of how children from all cultural backgrounds access genomic health care. For some communities there is stigma around genetics. We need to work with all communities to make sure genomics health care always puts the child and family first,” said Dr Emma Palmer.

The future could see new areas of study and even new jobs, including the possibility of roles focused on facilitating patient access to genetic therapies. SCHN is leading the way in this field and by improving processes and standards of care for rare genetic conditions, it opens the door for other hospitals in NSW and across Australia to follow suit.

“If it works for us, it should work for other genetics units. It’s a big machine with many different components and if we can get them working better, other departments could implement them as part of daily life,” said Dr David Mowat, Head of the Centre for Clinical Genetics, SCH.