The challenge
Genetic muscle disorders are individually rare but collectively may affect up to 1 in 3,500 people. For people living with suspected genetic muscle disorders, including muscular dystrophies, reaching a diagnosis can be a lengthy and complex process. Current standard genetic testing technologies, such as next-generation sequencing, may only identify a diagnosis in 21–65% of cases. This means many patients continue searching for answers even after undergoing genetic testing. Without a confirmed genetic diagnosis, patients may miss out on important information about disease progression, appropriate management strategies, genetic counselling and family planning decisions.
Dr Dennis Yeow’s research is investigating whether a newer sequencing technology, long-read sequencing, can overcome some of the limitations of existing approaches to improve the diagnosis of genetic muscle disorders.
The role of philanthropy
Hearts & Minds funding, as nominated by Magellan Investment Partners, has enabled Muscular Dystrophy NSW to award a full-time postgraduate scholarship to Dr Dennis Yeow, enabling him to focus on advancing research into long-read sequencing as a potential tool to reduce diagnostic uncertainty for people living with genetic muscle disorders.
In a group of 31 patients with suspected genetic myopathy whose previous standard genetic testing had not identified a confirmed diagnosis, long-read sequencing identified a new genetic diagnosis in 11 patients (35.5%). On average, these participants had experienced symptoms for 14 years before enrolling in the study without knowing the genetic cause of their condition, highlighting the lengthy diagnostic journey faced by many people with rare genetic disorders.
The new genetic diagnoses identified through this research were communicated to patients, their families and treating clinicians. These diagnoses provided information that was previously unavailable, supporting a more accurate understanding of disease progression, informing genetic counselling and family planning decisions.
What this could unlock
Long-read sequencing is currently limited to the research setting. However, growing evidence of its advantages over existing genetic sequencing technologies is helping to build the case for clinical adoption. Several diagnostic genetic laboratories in Australia are now exploring its use within their services. If adopted more widely in clinical practice, this technology could improve diagnostic rates and reduce delays for people with genetic myopathies, helping more patients and families access answers sooner.
This project is supported by Hearts & Minds, as nominated by Core Fund Manager, Magellan Investment Partners. For further information and updates, visit Muscular Dystrophy NSW.
