Understanding the challenges facing personalised therapies in healthcare

Kids Research has been instrumental in leading research into novel therapies for rare diseases, in particular, rare diseases that are so rare that health professionals may only care for one person with the disease.

A paper published in the Nature Reviews Drug Discovery journal, co-led by researchers at the Sydney Children’s Hospitals Network, analysed the challenges in bringing personalised therapies from the laboratory bench to the patient’s bedside. It outlined the issue of personalised medicine in healthcare, and how it cannot go down the traditional path that other drugs do. Normally, drugs are tested in a large number of patients in clinical trials before being approved to use in a clinic. This poses an issue in testing for potential risks and safety for personalised medicines of rare conditions, where there may only be one person with the rare disease. 

The paper defined a framework of what this personalised therapy pathway might look like and how it might be implemented into the healthcare system, encouraging the collaboration of doctors, scientists and healthcare workers with government regulatory bodies, with community members, patients and their families.

This research underlines the efforts already taken, taking us a step closer to a future where personalised therapies can be delivered to those patients in our care without delay.

 

New cost-effective method helps diagnose rare disease

Researchers at Sydney Children’s Hospital, Randwick have found a new cost-effective testing method to support family planning for those living with rare genetic disease, Tuberous Sclerosis Complex (TSC). 

TSC is an incurable multi-system genetic condition that causes non-cancerous tumours to grow in parts of the body including vital organs like the brain, heart or lungs. Some cases are so serious they require surgery and lifelong tumour monitoring, while others are so mild that a person may not even know they have it.

A TSC diagnosis is especially crucial for those planning to have children, because the chance of a parent with TSC passing the unpredictable condition to their child is 50%. Although, TSC often cannot be diagnosed using standard genetic testing, but only through a costly, labour-intensive deep genomic sequencing testing.

Targeted clinician education is making genetic care more inclusive 

Researchers at the Sydney Children’s Hospital, Randwick and UNSW Sydney, have seen great success with their GeneEQUAL toolkit, a collection of resources to improve access to inclusive genetic health care for children and adults with intellectual disabilities.

The toolkit has been viewed more than 13,000 times across 70 countries, and an evaluation published in the Genetics & Medicine research journal found that clinicians widely endorsed its effectiveness. In a survey, 96% agreed it improves clinical practice, and users reported significant increases in their capability, motivation, and opportunity to provide inclusive care.

The toolkit was co-produced by people with intellectual disability and includes best‑practice guidelines, training videos and materials that support understanding of genetic testing and diagnosis.