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Imagine walking into an appointment with your doctor. The reason for the appointment is never made clear to you. Your doctor never speaks to you directly, preferring to address the person accompanying you. Major decisions about your care are made without your input because you are not considered capable of giving informed consent.

This is the reality for many Australians with intellectual disability when they receive genetic health care – counselling and information for those who have or are at an increased chance of genetic conditions.

A team of researchers from UNSW Sydney – led by Dr Emma Palmer, Professor Iva Strnadová and Julie Loblinzk OAM – are taking action to change this reality. Their GeneEQUAL project, a partnership with NSW Health, brings together researchers, people with intellectual disability, and practitioners across health and education. Together, they are creating an inclusive, respectful model of genetic health care.

Genetic health care is a particularly important aspect of health care for people with intellectual disability. Clarifying the underlying genetic cause for an individual’s intellectual disability, or other conditions they may have such as a predisposition to cancer, can improve their health care outcomes through targeted health checks and therapies, empowerment and reproductive choice.

Members of the GeneEQUAL research team, from left: Jackie Boyle (counsellor, NSW Genetics of Learning Disability Service), Julie Loblinzk (Adjunct lecturer, School of Education UNSW), Skie Sarfaraz (Team leader, Leadership and Peer Support program, Self Advocacy Sydney), Iva Strnadová (Professor of Special Education and Disability Studies UNSW) and Emma Palmer (clinical geneticist and academic at SCHN and UNSW). Photo: Russell Wheatley.

Gaps in genetic health care system

Dr Palmer, who is a clinical geneticist and academic at Sydney Children’s Hospital Network (SCHN) and UNSW Medicine & Health, has seen the challenges people with intellectual disability have faced when receiving genetic counselling.

“Often they were excluded from the clinical appointments. The person they went with, a parent or support person, was talked at, not them. The language that was used was often very negative and stigmatising,” Dr Palmer says.

In 2019, Dr Palmer approached Prof. Strnadová and Julie Loblinzk, academics from UNSW's and School of Education who collaborate on projects to improve the wellbeing of people with intellectual disability. Ms Loblinzk is a self-advocate with lived experience of intellectual disability, who has spent more than 25 years supporting others with intellectual disability to advocate for themselves and live life to the full.

Dr Palmer’s question was, how can we make genetic health care better for people with intellectual disability? The researchers embarked upon the GeneEQUAL project, and the first step was talking with people with intellectual disability and their families who had experienced genetic health care.

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“Our interviews painted a sad picture – that there was a lack of accessibility, a lack of clear communication, and damaging language was used,” Prof. Strnadová says.

“There were words like retardation, disorder, mutation… If you keep on hearing these things about yourself, no wonder you don’t have very high self-esteem.”

Another issue was the assumption that people with intellectual disability can’t provide informed consent for health care decisions. Health care providers would discuss these decisions with the parent or the guardian, ignoring the patient during the consultation. 

“Most people with intellectual disability can provide informed consent and make decisions about their health, as long as the relevant information is made accessible to them,” Prof. Strnadová says.

The researchers brought these to NSW Health, who provided funding support to continue the GeneEQUAL study and create a toolkit to educate health care workers, people with intellectual disability, and others involved in their care.

Co-design research

To create the GeneEQUAL toolkit, the GeneEQUAL inclusive research team of academic researchers and researchers with intellectual disability worked closely with groups of people with intellectual disability. This process, called co-design, is when stakeholders are actively involved in researching the issue and creating solutions.

“We took the [initial resources] to Self Advocacy Sydney and other self-advocacy groups. One of the things they love to do is give feedback. And it’s not just one consultation session with them. They always want to come back and have a say,” Ms Loblinzk says.

Julie Loblinzk facilitates a co-production workshop with members of the community with intellectual disabilities to gain feedback on Easy Read materials created for the GeneEQUAL project. Photo: Supplied.

According to the researchers, co-design was crucial to creating resources that were accessible and addressed the important issues in genetic health care. They also conducted the research inclusively, for example creating meeting agendas and notes in Easy Read, so that all members of the team could participate fully.

“We would never have developed the GeneEQUAL toolkit without the members of our team who have intellectual disability, and all of the people who were part of the co-production workshops, and the initial interviews,” Prof. Strnadová says.

“The critical thing at the centre is the voice of people with intellectual disability.”

Guidelines for better care

The contains information for health care professionals, as well as people with intellectual disability.

For clinicians, there are on providing inclusive, person-centred and respectful genetic health care. This involves making reasonable adjustments, ensuring the patient is at the centre of discussions and decisions, and providing trauma-informed care.

“It’s about changing the whole mindset. I teach my students that we shouldn’t be seeing ourselves as doctors telling the patient what to do – rather part of a partnership. We should speak as we would to a friend or our mum and treat people with respect,” Dr Palmer says.

The toolkit also includes videos of health care professionals and people with intellectual disability, demonstrating poor practice versus inclusive, person-centred and respectful practice.

In addition, there are GeneEQUAL Easy Read , helping them to educate themselves about genetic health care, advocate for their rights and prepare for their appointments.  

“I would hope that these resources really support patients to get information – and support patients to have a say because it doesn’t happen a great deal,” Ms Loblinzk says.

The GeneEqual toolkit has been viewed by more than 750 people to date, and while most users are from Australia, people from the US, UK and Canada are also accessing the material.

“The anecdotal feedback we are receiving is very positive,” Dr Palmer says.

“We’ve had someone say they think it should be compulsory training, a support person has said they’ve changed how they behave in appointments as a result, and the Easy Read materials and videos have been very well received by both people with intellectual disability and health care professionals.”

Empowering people with intellectual disability

Recently, the GeneEQUAL team have received support from the National Health and Medical Research Council (NHMRC) for a 5-year project to expand GeneEQUAL to other Australian states. The researchers will continue the co-design process with people with intellectual disability from across the country.

GeneEQUAL also provides a model for making services more inclusive for people with intellectual disability, using co-design. The project shows that people with intellectual disability can contribute so much more, and get so much more out of life, if they are given the opportunity.

“It was really hard growing up. I didn’t have a say in what was happening,” Ms Loblinzk says.

“I really want people to speak up, have choices, make decisions and be empowered in what they’re doing.”