Exploring Autistic adults’ perspectives on genetic testing for autism

Byres, Loryn; Morris, Emily; Austin, Jehannine

doi:10.1016/j.gim.2023.100021

Cited by 18 publications

(13 citation statements)

References 37 publications

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“…In addition to be housed at a children’s hospital, the enrichment of younger children in our clinic is likely due to the increased rate of genetic testing and diagnosis primarily in pediatric patients, with many older adults with NDDs going untested and undiagnosed. There is a great need to address this disparity through collaboration with adult medical providers so that all patients with NDDs, young and old, can benefit from advances in genomic and precision medicine [18,19]. The majority of patients were assigned male at birth, consistent with the well-established male sex bias for NDDs, especially ASD [20].…”

Section: Discussionmentioning

confidence: 95%

Genomics-informed Neuropsychiatric Care for Neurodevelopmental Disorders: Results from A Multidisciplinary Clinic

Besterman,

Adams,

Wong

et al. 2024

Preprint

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Background: Patients with neurodevelopmental disorders (NDDs) have high rates of neuropsychiatric comorbidities that can be highly impairing and treatment refractory. Genomic medicine may help guide care, as pathogenic variants are identified in up to 50% of patients with NDDs. We evaluate the impact of a genomics-informed, multidisciplinary, neuropsychiatric specialty clinic on the diagnosis and management of patients with NDDs. Methods: We performed a retrospective study of 316 patients from the UCLA Care and Research in Neurogenetics Clinic, a genomics-informed multidisciplinary clinic composed of psychiatry, neurology, medical genetics, psychology, and social work. Results: We observed high rates of psychiatric and medical comorbidity. Among the 246 patients that underwent genetic testing, 41.8% had a pathogenic or likely pathogenic (P/LP) variant. Patients had 62 different genetic diagnoses, with 12 diagnoses shared by two or more patients, including Duplication 15q syndrome (9.18%), Tuberous Sclerosis Complex (3.48%), and Angelman syndrome (1.27%), while 50 diagnoses were found in only single patients. Genetic diagnosis resulted in direct changes to clinical management in all patients with a P/LP variant, including high rates of cascade testing (30.6%), family counseling (22.2%), medication changes (13.9%), clinical trial referral (2.8%), medical surveillance (30.6%), and specialty referrals (69.4%). Conclusions: A genomics-informed model can provide significant clinical benefits to patients with NDDs, directly impacting management across multiple domains for most diagnosed patients. As precision treatments for NDDs advance, establishing a genetic diagnosis will be critical for proper management. With the growing number of rare neurogenetic disorders, clinician training should emphasize core principles of genomic medicine over individual syndromes.

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Section: Discussionmentioning

confidence: 95%

Genomics-informed Neuropsychiatric Care for Neurodevelopmental Disorders: Results from A Multidisciplinary Clinic

Besterman,

Adams,

Wong

et al. 2024

Preprint

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“…Some worry that the focus on genetic causes of autism potentially devalues autistic lives, rendering them as 'ab' or 'sub' normal and requiring pre-birth intervention. As such, Singh (2015a) has described ambivalence and resistance to genetic testing from autistic adults in the United States -a sentiment partly shared by participants in Byres et al (2023).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, she found parents 'placed a high level of trust' in clinical research entities collecting biobank data (Singh, 2015a, p. 141). This strong faith in conventional science appears to persist despite uncertainties about the uses to which genetic information might be put (Bumiller, 2009;Byres et al, 2023). Alongside these perceived benefits, studies with parents of autistic children have also revealed concerns, including the potential for genetic discrimination by employers and insurance companies, and worries about data security (Biesecker et al, 2021;Johannessen et al, 2017;Madrid et al, 2022;Wagner et al, 2020;Yudell et al, 2013), the stress of blood draws for children (Hens et al, 2016a) and the limited practical benefit of genetic studies (Chen et al, 2013).…”

mentioning

confidence: 99%

Contributing to an autism biobank: Diverse perspectives from autistic participants, family members and researchers

Lilley,

Rapaport,

Poulsen

et al. 2023

Autism

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There has been intense debate within the autistic and autism communities about the use of autism biobanks – repositories containing biological and phenotypic materials – and of genomic autism research more broadly. Here, we sought to understand the views and experiences of those contributing to one specific biobank, the Australian Autism Biobank. We adopted a multi-informant approach, conducting semi-structured interviews with 77 people, including 18 autistic probands, 46 parents and seven siblings, all of whom donated material to the Biobank, as well as six researchers employed on the project. Specifically, we asked: what motivated participants and researchers to contribute to the Australian Autism Biobank? And how did they feel about their involvement in that process? We analysed the data using reflexive thematic analysis, adopting an inductive approach within an essentialist framework. We identified three themes, which revealed a wide diversity of viewpoints, including positive conceptualisations of autism linked to neurodiversity and more negative conceptualisations linked to hopes for the development of genetic screening and reproductive choice. These findings have implications for the meaning, value and future directions of autism science. This research has been conducted using the Australian Autism Biobank resource. Lay abstract A lot of autism research has focused on finding genes that might cause autism. To conduct these genetic studies, researchers have created ‘biobanks’ – collections of biological samples (such as blood, saliva, urine, stool and hair) and other health information (such as cognitive assessments and medical histories). Our study focused on the Australian Autism Biobank, which collected biological and health information from almost 1000 Australian autistic children and their families. We wanted to know what people thought about giving their information to the Biobank and why they chose to do so. We spoke to 71 people who gave to the Biobank, including 18 autistic adolescents and young adults, 46 of their parents and seven of their siblings. We also spoke to six researchers who worked on the Biobank project. We found that people were interested in giving their information to the Biobank so they could understand why some people were autistic. Some people felt knowing why could help them make choices about having children in the future. People also wanted to be involved in the Biobank because they believed it could be a resource that could help others in the future. They also trusted that scientists would keep their information safe and were keen to know how that information might be used in the future. Our findings show that people have lots of different views about autism biobanks. We suggest researchers should listen to these different views as they develop their work.

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“…They expressed several concerns about genetic research, with primary worry being that such research could be used to develop “cures” for autism [ 19 ], terminology which both ASAN and the authors of this paper do not endorse. Additionally, survey data from autistic adults reveal that 49% do not believe that genetic testing for autism should be conducted at all, and 40% believed that genetic testing was only harmful [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis

Wang,

Little,

Carter

et al. 2024

PLoS ONE

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Several professional organizations recommend conducting genetic testing as part of the autism diagnosis process, as it can provide additional information and benefits for autistic people and their families. However, there is disagreement among autism communities about whether genetic testing reflects autistic people’s best interests. In practice, rates of clinical genetic testing for autism are much lower than diagnoses, creating a large gap between clinical guidelines and real clinical encounters. To investigate one potential source of this gap, we interviewed 14 healthcare providers about the autism diagnostic process and their actions related to autism genetic testing. We recruited a sample of primarily Ph.D. level-psychologists and analyzed our qualitative data using a five-step framework analysis method. Participants generally had positive or mixed views of genetic testing in autism. They described their current experiences of implementation of genetic testing, including that they did not often find it changed their clinical practice. Only some providers recommended it to everyone receiving an autism diagnosis. They also listed factors which discourage families from getting testing, including high costs, families feeling overwhelmed, other support needs taking priority, and ethical implications. Notably, providers highlighted a trend of referring patients to research genetic testing rather than clinical testing, which may provide a cheaper and easier alternative but is not likely to return results to participants. Finally, participants felt they needed more training in genetics and listed specific topics of uncertainty. Our research highlights a need to further educate clinicians in the uses and limitations of genetic testing for autism and suggests content areas of focus for genetics educators.

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Exploring Autistic adults’ perspectives on genetic testing for autism

Cited by 18 publications

References 37 publications

Genomics-informed Neuropsychiatric Care for Neurodevelopmental Disorders: Results from A Multidisciplinary Clinic

Genomics-informed Neuropsychiatric Care for Neurodevelopmental Disorders: Results from A Multidisciplinary Clinic

Contributing to an autism biobank: Diverse perspectives from autistic participants, family members and researchers

Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis

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