SPHERE Health Innovation Fellow to improve equitable access to rare disease diagnosis

A project to improve access to genomic healthcare for people living with rare disease has been awarded funding through SPHERE’s new Health Innovation Fellowship program.

Dr Lisa Ewans is one of four successful recipients of the Fellowship, which supports early- to mid-career researchers to lead projects addressing major health system challenges.

Dr Ewans, a Clinical Geneticist at Sydney Children’s Hospitals Network, Randwick, Conjoint Senior Lecturer at UNSW Sydney and Research Officer at the Garvan Institute of Medical Research, will lead the project RareEquity: Redesigning and implementing a more equitable rare disease diagnostic pathway for priority populations.

The project aims to redesign clinical genetics pathways to improve access to diagnosis and care for people from culturally and linguistically diverse and First Nations communities who are living with, or suspected to have, a rare genetic condition.

“The SPHERE Health Innovation Fellowship represents an incredible opportunity to dedicate focused time to improving equitable access to genomic healthcare for people living with a rare disease. I hope the work emerging from this project will create lasting, meaningful change for our underserved multicultural and First Nations communities,” Dr Ewans said.

Rare diseases affect around two million Australians, including an estimated 640,000 people in NSW. More than 7,000 rare diseases have been identified, and most have a genetic basis. For people and families affected by rare disease, a diagnosis can be life-changing. It can guide clinical care, reduce uncertainty, inform recurrence risk for families, support access to clinical trials and emerging therapies, and connect people with relevant supports and services.

However, many people remain undiagnosed, even after genomic testing. For families from priority populations, the pathway to diagnosis can be even more difficult. Barriers may include reduced access to specialist clinical genetics services, language and cultural barriers, challenges navigating health systems, lower appointment attendance and reduced enrolment in research pathways that may offer further opportunities for diagnosis.

Dr Ewans’ project responds directly to this gap by focusing on system-level changes that can make rare disease diagnosis more equitable, culturally safe and accessible.

RareEquity will build on existing rare disease and genomic medicine infrastructure, including the MRFF-funded Diagnosis4All project and the Gene2Care program, which includes GeneSTART, a rare disease registry, and GeneAdd, an undiagnosed diseases program. Through these existing programs and partnerships, RareEquity will focus on redesigning referral, intake and engagement pathways for patients referred to clinical genetics services.

The project will use implementation science and co-design methods to better understand the barriers experienced by priority populations and develop practical solutions with consumers, clinicians, Aboriginal health representatives and multicultural partners. This will include improving referral and intake processes, strengthening culturally safe engagement, and developing plain-language and translated resources to support families to access clinical genetics services and research pathways.

RareEquity aims to reduce the gap in first appointment attendance between priority and non-priority populations and increase enrolment of priority population patients in rare disease registries and undiagnosed diseases programs. Success will be measured through audit data and feedback from consumers, clinicians and health service partners.

Dr Ewans brings significant clinical and research experience to the Fellowship. She has 10 years’ experience in rare disease diagnosis and care, and her translational research focuses on using genomic and frontier technologies to increase diagnosis, improve patient outcomes and demonstrate the value of genomic healthcare.

The Fellowship will support collaboration across several SPHERE partners, including Sydney Children’s Hospitals Network, South Western Sydney Local Health District, South Eastern Sydney Local Health District, UNSW Sydney, the University of Technology Sydney and Children’s Cancer Institute. The project will also involve national consumer partners, including Rare Voices Australia, Genetic Alliance Australia and SWAN Australia.

By the end of the Fellowship, RareEquity aims to deliver a tested model for more equitable rare disease diagnostic pathways that can be embedded into routine clinical genetics workflows and adapted across other NSW services.