Rare Disease Now (RDNow) is a project funded by the RCH Foundation which aims to establish a pathway for children with a rare disease that remains undiagnosed, even after genomic testing. The project seeks to give these children the best chance of receiving a diagnosis and to access the latest clinical trials and treatments.

What is a “rare” disease?

There are more than 6000 known rare diseases, 75 per cent of which affect children.

““Rare” isn’t that rare. Collectively, the impact of rare diseases is similar to the impact of diabetes,” said Associate Professor Sue White, Deputy Clinical Director of the Victorian Clinical Genetics Services.

Many of these diseases progress over time, and about a third of children with genetic conditions die before the age of five.

The underlying cause of many of these diseases remains unexplained.

Power of genomics in diagnosis

Clinical genomic sequencing is a powerful test to help identify the cause of rare diseases. It can also give information on the heritability of conditions, empowering couples to make decisions about their reproductive options in the future.

A definitive genetic diagnosis can end invasive tests or procedures to search for the cause. It also relieves anxiety and uncertainty for their parents and families. In the best cases, it leads to a change in treatment and a halt or reversal of symptoms.

About 50% of children who undergo genomic testing, however, do not receive a diagnosis and must continue their diagnostic journey to find answers.

Rare Diseases Now – a pathway for those who remain undiagnosed.

Drawing on the research and clinical expertise at the Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Rare Diseases Now (RDNow) has established a pathway for children who remain undiagnosed after a genomic test such as exome sequencing. This gives them the best chance of receiving a diagnosis and to access the latest clinical trials and treatments.

Funded by the RCH Foundation and launched in 2020, RDNow provides opportunities for families to participate in studies that increase our ability to provide families with great care and support and enhances our clinical knowledge of rare conditions. In addition, this project enables the discovery of new genes that advances our understanding of rare genetic conditions.

“RDNow aims to address a knowledge gap by developing a framework for patients with rare disease, expand access to genomics to all hospital departments and upskill non-genetics doctors in genomics so that more families can get answers from genomic tests,” Associate Professor White said.

Based on previous work by the Undiagnosed Diseases Project – Victoria (UDP-Vic), it is expected that a diagnosis will be identified for about 42% of children who use genomic sequencing in this way.

RDNow – one year on

In 2020, RDNow has provided genomic sequencing to 50 families whose children have a rare, undiagnosed genetic condition. This means 150 tests were performed (child plus two parents). RDNow is in the process of analysing the results. In 2021, RDNow already has almost 30 more children in the process of recruitment or testing in the project.

The future of genomics in health care

Embedding genomics into clinical practice has been shown to reduce healthcare costs, unnecessary testing, and the time to diagnosis. Undiagnosed children often require repeated clinical review and ongoing investigation, including resource-intensive invasive tests such as imaging under general anaesthetic and lumbar punctures.

Accurate genomic diagnosis reduces the need for many invasive and expensive tests and relieves the burden on operating theatres, medical imaging and other systems needed to carry out these investigations.

RDNow hopes to improve methods of identifying individuals with a rare disease so that they can be offered clinical trials or natural history studies as these arise.

The project hopes that these pathways will give answers to these children and their families.

More information

You can hear more from Associate professor Sue White in her recent interview on Triple R’s Einstein A Go-Go, which was recorded on International Rare Disease Day.