Our next challenge as researchers is to ensure that our autism genomics research creates a future for autistic people and their families within a research-led learning healthcare system. – Dr Lorna Lopez
The Joint Committee on Autism was established to consider matters relating to the services and supports provided by the State for autistic people in Ireland.
On the 31st of January 2023 primary investigator of the Family Genomics Research Group, Dr Lorna Lopez joined the Oireachtas Joint Committee on Autism debate to enlighten the committee on existing autism research activities in Ireland that could help inform the committee's forthcoming report. Watch the full recording of the debate here,
In her opening remarks, Dr Lopez stated, “This has real significance for patients at the moment. Children can be screened for genetic variants and given genetic diagnosis in clinic. Genetic diagnosis offers an explanation and more understanding for families about their child’s condition.”
Lorna is referring to the significant impacts that whole genome sequencing has on clinical research. Her research group uses this technique to identify genetic variants, or changes within a specific area of a gene that is known to be linked to autism. The genetic variant does not necessarily cause autism but changes the gene to express autism. These genetic changes are then compared among individuals within a family. When comparisons from multiple families are compiled together a much bigger picture is created – this is extremely important for understanding which genetic changes are more likely to express autism.
Associate professor at the Trinity College Dublin school of psychology in applied behavioural analysis, Dr Olive Healy also took part in the debate to convey the power of needs-led research to help give autistic children and their families the best start.
“Empowering parents with these [technological] solutions is so important in very early intervention. We often talk about early intervention once diagnosis has been given, but we should provide very early intervention, even while somebody is waiting for a thorough assessment. We have seen from our research that we can make powerful impacts on the developmental trajectory of young children and give their parents skills they can use at home, in the naturalistic setting, and out in the community; that are highly effective to improve social and communication and behavioural repertoires.”
Both Dr Lopez and Dr Healy expressed the importance of using innovative research techniques to drive clinical practice and create solutions for improved autism supports. They were joined by the deputy director general for Science Foundation Ireland (SFI), Dr Ciarán Seoighe to further this belief by including the voices of autistic individuals and advocates byway of their submissions to the SFI Creating Our Future public forum campaign. Their submissions highlighted an obligation for autistic-led research and addressed the need for increased supports in Ireland for autistic people in health, social care, inclusion, and more.
The expert report for the SFI Creating Our Future campaign was published in March 2023 and can be accessed here Creating Our Future Reports.
Including autistic voices in research is essential – even if there may be differing opinions, as it fosters a healthy environment for initiating positive change. Organizations like the European AIMS-2-TRIALS engagement group and PPI Ignite in Ireland already promote excellence in research by actively involving the autistic community in co-creating research agendas and priorities within an engaged framework.
The debate and the work of the joint committee emphasises the benefits derived from collaboration between clinicians, clinical researchers, technical experts, and lived experience experts, however Dr Lopez underlined something for the committee to meaningfully consider.
“Our next challenge as researchers is to ensure that our autism genomics research creates a future for autistic people and their families within a research-led learning healthcare system and to take advantage of new opportunities such as our new national strategy for accelerating genetic and genomic medicine in Ireland, and to do this while ensuring the voice of the public is heard.”
The final report from the Joint Committee on Autism has since been published on the 14th of June 2023. The committee established 109 recommendations for greater collaboration across government to provide improved services for autistic people in Ireland. The recommendations shed light on the daily realities experienced by autistic individuals in Ireland, and Senator Micheál Carrigy, Cathaoirleach of the Committee addressed the absolute need to fulfil every one of the recommendations.
“While the Committee is grateful to these [autism] advocates, we are also disappointed that they have been forced to share details of their private lives and the challenges they experience with the public. The Committee calls on the Government to adopt this report and to implement its’ recommendations.”
A full recording of the launch and the full report can be accessed here Committee on Autism – 33rd Dáil, 26th Seanad – Houses of the Oireachtas
The launch and accompanied report primarily focused on how Ireland needs to foster a better understanding of autism and advocate for a society that celebrates and supports the unique strengths, talents, and challenges of autistic individuals and their families. However, while the lack of state funded supports and the need for immediate action was underlined, examples of existing success stories in Ireland were ignored.
“We have plenty of examples of best practice...” Autism spectrum disorder Consultant and gracious PPI contributor to the Family Genomics Research Group, Dr Susan Crawford put into words how Ireland established a one-stop-shop program for autism research, education, and supports years prior to the launch of the report.
“… our first autism unit back in the day was set up down in Co. Clare. We had a speech and language therapist, we had an OT [occupational therapist], we had a sport and exercise scientist, a psychologist, every child who attended that unit had an SNA [special needs assistant]. We had an example of good practice in this country, it was evaluated independently by two incredible researchers and people who contributed greatly to the world of autism and disability internationally.”
The reported recommendations echo the example Dr Crawford cited – it encourages a shift in services and policies to adapt a needs-led approach to ensure that all autistic people can access the level of supports they need, and at the right time.
As Dr Lopez stated during the debate back in January, “To realise the benefits of autism research, we need greater integration of research and clinical care. This is urgent in the age of precision medicine, which is focused on the right treatment for the right person at the right time.”
While the integration and evaluation of research initiatives – past, present, or future, are not expressed, the report does take great consideration into the need for more adequate diagnosis techniques and the positive impacts that a diagnosis can have for individuals questioning their condition and struggling without supports. Aligning research that supports precision medicine will guide advancement for better-quality autism supports and an overall enhanced understanding and acceptance of autism.
To iterate Dr Crawford’s point, “We have to evaluate every service that we put in place; from the day we begin to put them in place. Not looking back, five years, ten years time.”
At the launch Dr Lopez spoke to how best practice for evidence-based research will always include input from the living experiences of autistic people, and with the help of future funding initiatives will also include more autistic researchers.
The Family Genomics Research Group has greatly benefited from close collaborations with transdisciplinary technical experts like clinicians, clinical researchers, lived experience experts, science communicators, and public and patient involvement contributors. A well-rounded approach aimed at providing personalized medicine for neurodevelopmental conditions – an overarching goal for many healthcare systems across Europe and one of the targets set out by the national strategy for accelerating genetic and genomic medicine in Ireland that was launched in December 2022.
This document can be accessed here National Strategy for Accelerating Genetic and Genomic Medicine in Ireland (hse.ie)
There is great power in interdisciplinary research for curating complete supports for individuals with autism, and their families and caregivers. Without including each of these important stakeholders and their success stories how will the appropriate supports for autism become a reality in Ireland?
While the report is an impactful representation of how co-created policy should be conceived, it also requires some creative liberties when reading it from a researcher’s perspective. So for now, we will competently read between the lines to identify where evaluative research fits into the 109 recommendations.