The collaborative project between UNSW Sydney, Sydney Children’s Hospital Network and NSW Health will provide world-first resources to inform people with intellectual disability about their own genetics and improve their health outcomes.

More than 400,000 Australians have an intellectual disability. Although intellectual disability can be described in many ways, the NSW Council for Intellectual Disability recommends a definition by life-long self-advocate with intellectual disability, Robert Strike AM.

“Intellectual disability is a disability that slows down learning. We can learn if the way of teaching matches how the person learns. Intellectual disability is not an inability to think! We know what is going on around us, and we can feel what’s going on too,” he said.

People with intellectual disability face many inequities. They experience both premature mortality and higher levels of potentially avoidable deaths. Genomics has revolutionised our understanding of the causes of intellectual disability and can also improve health outcomes. However, current clinical genetics and genetic counselling training in Australia does not specifically address how to include people with intellectual disability in genomic healthcare and provide inclusive and accessible genetic counselling.

A $120,000 grant from the NSW Health ‘Transforming healthcare through genomic technologies’ initiative, funded by the Australian Government through stage one of the Health Innovation Fund, will address this inequity.  It will enable direct and inclusive consultation with people who have intellectual disability through interviews and small focus groups. The project seeks to understand the patient journey better, find gaps in current resources, and create a road map for providing inclusive genetics and genomics services. 

The research breaks new ground by directly asking people with intellectual disability themselves about their knowledge, perspectives and experiences, education needs and preferences when accessing genomic services within NSW Health.

Dr Elizabeth Emma Palmer, a clinical geneticist at Sydney Children’s Hospitals Network and lecturer at UNSW Medicine & Health, will lead the project in collaboration with Professor Iva Strnadová, an expert in Special Education and Disability Studies, and Julie Loblinzk, an Adjunct Lecturer from UNSW’s School of Education, Professor Jackie Leach Scully, bioethicist and Director of the UNSW Disability Innovation Institute, and Jackie Boyle, genetic counsellor from the NSW Genetics of Disability Service.

The team will produce a set of recommendations for NSW Health outlining their findings. They anticipate the report will recommend a need to develop resources in three areas. The first of these would be Easy Read resources about genetics and genetic testing. The second is better training for genetics professionals to improve education about communicating with people with intellectual disability about their care as well as rare genetic diseases. The third is to start discussion around how we can make consent and assent more informed for people with an intellectual disability.

“We want to give our patients the opportunities to understand and make informed choices about their genetic conditions,” Dr Palmer said.

“This project is critically important and will have a great impact on addressing the needs of a vulnerable, and often unheard, group of people.”

“It will help improve the wellbeing of people with intellectual disability by empowering them to ask the right questions about their care and give them the right information to make decisions about their health,” she said.

Ultimately, the project will help enable the development and delivery of a world-leading inclusive genomic model of care for people with intellectual disability.

Featuring a cross-disciplinary approach, inclusive research methods, and embodying the core principles of co-design and co-production in research, the project exemplifies the successful model of interdisciplinary collaboration at the Randwick Health & Innovation Precinct. Importantly and in line with best practice in inclusive research, one of the chief investigators is a person with intellectual disability.

“What’s most exciting about the project is that we’re working collaboratively as researchers, self-advocates and clinicians across UNSW, Sydney Children’s Hospitals Network and NSW Health. By bringing together expertise from different areas, we’ll have a more responsible and inclusive project,” Dr Palmer said.

“And, we’ll have significantly better outcomes for our patients.”

Dr Elizabeth Emma Palmer, Clinical Geneticist