A pipeline of accredited RNA Diagnostics to extend diagnostic yield of rare disorders by 25% in 5 years
DNA testing has transformed the diagnosis and outlook for many children with genetic diseases which affect 1 in 100 individuals, but it still does not provide a definitive diagnosis for approximately half of these families. This leaves families and clinicians with no actionable answer and health systems with no diagnostic return on their investment in genetic sequencing.
Changes in DNA, known as variants, can cause these genetic conditions. Variants can also be seen by looking at the RNA. Through RNA sequencing, this project aims to offer families living with rare genetic diseases or inherited cancer predisposition a precise genetic diagnosis and revolutionise their personalised health care options. A precise genetic diagnosis is a key to personalised healthcare, disease prevention, treatment, and sometimes a cure.
This health implementation project established a centre for RNA Diagnostics that provides an accredited RNA diagnostic service with 95% diagnostic return (i.e., 95% variant re-classification). It aimed to resolve the pathogenicity of variants for 60 families with rare monogenic disorders or germline cancer.
The project involved a nationwide interdisciplinary collaboration between scientists, clinicians, pathologists research centres, pathology labs, and clinical genetic departments to bring RNA diagnostics into clinical practice.
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RNA testing has extended the diagnostic yield from 39% to 63% (boosting by >60%) providing a diagnosis for many families. Making a genetic diagnosis provides answers for affected families who previously had none, enabling early diagnosis, early intervention, and disease prevention.
Confirming a genetic diagnosis is a crucial milestone for patients. Diagnosis enables precision medicine to anticipate and prevent complications associated with the patient’s specific disease, allows genetic counselling for the wider family unit, and informs family planning – diminishing anxiety regarding disease recurrence.
A genetic diagnosis may also identify potential therapies or enable eligibility for clinical trials. For families with rare disorders, a genetic diagnosis also has significant psychosocial benefits, providing a name, explanation, and insight into their condition and facilitating connection to local and international support networks.
Through embedding RNA sequencing in clinical diagnostics, we may be able to offer families living with rare genetic diseases or inherited cancer predisposition a precise genetic diagnosis and revolutionise their personalised health care options.
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Lead Investigator
- Professor Sandra Cooper
Adjunct Research Scientist at Children’s Medical Research Institute, Co-Head and Scientific Director of the Kids Neuroscience Centre at Sydney Children’s Hospitals Network (Westmead).
Research Team
- Prof Edwin Kirk
Sydney Children’s Hospitals Network, Prince of Wales, UNSW Sydney - A/Prof Bruce Bennetts
Sydney Children’s Hospitals Network - Dr Lisa Riley
Sydney Children’s Hospitals Network
- Professor Sandra Cooper
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See Luminesce Alliance Publications – completed research – A pipeline of accredited RNA Diagnostics