The development of personalised or precision medicine is being delivered as our understanding of fields like genomics grows.
The discovery of thousands of new disease genes and new technologies means we have a better chance than ever before to understand and manage cancer, rare genetic (inherited) diseases, and neurodevelopmental disorders. ‘What does this all mean for me‘ video provides an overview of key precision medicine concepts.
How can precision medicine be of benefit for children?
Children are different to adults
Why focus on paediatric (children’s) precision medicine research?
Precision medicine research is especially important for children, as admissions to tertiary paediatric hospitals in NSW are dominated by genetic conditions (about 40-50% are estimated to have a major genetic contributory factor) and around 15-20% of childhood cancers appear to be associated with an underlying genetic predisposition.
Rare diseases in children impact us all
- Genetic diseases usually appear in childhood and lead to lifelong complications through adulthood.
- These diseases can impact the entire community through the cost of care and the financial and psychological burden on families.
- Many diseases of adulthood start in childhood, so improving diagnosis, prevention and treatment has significant long-term benefits.
In Australia and internationally, the vast bulk of medical research funding is spent on adult diseases – the largest market for pharmaceuticals. However, there is a current movement in the European Union and the United States to boost funding for paediatric research.
Paediatric research aims to prevent the burden of disease through the lifecycle as well as reducing healthcare costs and improving the quality of life for children as they mature into adults. Additionally, paediatric scientific discoveries also advance research into adult health.
Precision Medicine Frequently Asked Questions and Answers
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Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variabilities in genes, environment and lifestyle for each person.
Precision medicine, known also as personalised medicine, is a tailored treatment or prevention that accounts for individual and population-wide variability in these factors when designing treatments and contrasts traditional approaches where treatment is “one size fits all.”
- The goal of a precision medicine approach is to maximise disease prevention efforts or therapeutic responses for each individual while minimising harmful side effects.
- For many common (and rare) diseases, a combination of genomic, lifestyle, and environmental factors play an important role in disease onset, progression, and individual treatment response.
- Identifying and understanding this complex network allows researchers to develop more targeted therapeutics for subsets of individuals.
- Contrary to popular belief, precision medicine approaches are not always narrowly focused. Instead, many may be applicable across broad populations.
- Precision medicine is often known also as “personalised medicine”. Refer also to Luminesce Alliance Precision Medicine Glossary: clinical genomics, genomic medicine, precision medicine, stratified medicine. Read more.
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- Despite medical advances, cancer and rare diseases are the leading causes of death in children worldwide.
- Around 400,000 Australian children have genetic diseases and cancer.
- On average, about 1,000 new cases of cancer in children and young people are diagnosed annually in Australia and about 20% of Australian children with cancer will die from the disease.
- Of the 1,000 diagnosed annually, NSW sees about third of these children and young people.
- There are around 180,000 children who suffer from a known rare genetic disease in NSW, many of which are serious or life-threatening, and have no available treatment options.
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- Paediatric research is often done in silos. Precision Medicine requires extensive and intensive collaboration across multiple disciplines and organisations which may include but are not limited to: health precincts, medical research institutes, universities, government, consumer groups and not for profit organisations.
- Working collaboratively removes duplication of effort, pools unique resources and information, and brings together many more resources that otherwise would not be available to each organisation, to accelerate research and its translation into the health system to ultimately deliver better outcomes sooner, for children living with rare disease and cancer.
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- Our research enhances precision therapy knowledge and aids in the creation of new treatments. However, your child’s disease may lack an available precision therapy, or specific requirements may hinder their access to therapies in development or under clinical trial assessment. To explore precision therapy options tailored to your circumstance, consult with your healthcare provider for the best guidance.
Our short video gives examples of Jack and Baby M – you may also view their stories here.
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- Our research enhances precision therapy knowledge and aids in the creation of new treatments. However, your child’s disease may lack an available precision therapy, or specific requirements may hinder their access to therapies in development or under clinical trial assessment.
- To explore precision therapy options tailored to your circumstance, consult with your healthcare provider for the best guidance.
- For more information about clinical trials, visit the Clinical Trials registry.
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- Explore the Precision Medicine Glossary to build an understanding of commonly used terms relating to precision medicine. Read more.
- Hear from our Lead Investigator researchers – watch videos
- Watch our series of three videos about precision medicine, developed by an expert multidisciplinary team comprising psycho-oncology researchers, oncology clinicians, a genetic counsellor, and a parent of a child with cancer:
- View the ‘Finding a Way’ videos, a series of six brief positive psychology talks designed for parents of children with severe epilepsy that persists over a long time. In one sense they may be of help for any parent who has a seriously ill child. ‘Finding a Way’ video resources are being used across the Sydney Children’s Hospitals Network and are currently hosted online on the Paediatric Epilepsy Network New South Wales website.
- View the Sydney Children’s Hospital Network’s Advanced Therapeutics webinars and Gene Therapy Fact Sheet
- Visit our news page and search for a topic relevant to you – search news.
- Visit our completed research projects to learn about Luminesce Alliance research discoveries – learn more