{"id":1470,"date":"2023-09-27T22:46:00","date_gmt":"2023-09-27T22:46:00","guid":{"rendered":"https:\/\/bcchrtpgg.wpenginepowered.com\/?p=405"},"modified":"2025-09-16T23:24:22","modified_gmt":"2025-09-16T23:24:22","slug":"autistic-perspectives-genetic-testing","status":"publish","type":"post","link":"https:\/\/www.bcchr.ca\/tgrc\/2023\/09\/27\/autistic-perspectives-genetic-testing\/","title":{"rendered":"First-of-its-kind research unveils Autistic individuals\u2019 perspectives on genetic testing"},"content":{"rendered":"
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For the first time, Autistic individuals have been asked to share with researchers what they think and feel about genetic testing in the context of autism. Previous research has instead focused on the thoughts, feelings, and opinions of Autistic individuals\u2019 parents, caregivers, and health-care providers.<\/p>

Autism is a neurodevelopmental condition or neurotype characterized by differences in social behaviours, communication, and cognitive function. Autism is also considered to be a genetic condition, with heritability as high as 90 per cent. When people think of Autistic individuals, one of two extremes usually comes to mind: either\u00a0\u201cquirky savants\u201d or those who are severely disabled<\/a>. In reality, most Autistic individuals are somewhere in between.<\/p>

We spoke with Dr.\u00a0Jehannine Austin<\/a>\u00a0and\u00a0Loryn Byres<\/a>, two of the authors of \u201cExploring Autistic Adults\u2019 Perspectives on Genetic Testing for Autism<\/a>,\u201d published in Genetics in Medicine earlier this year. Dr. Austin is a researcher at BCCHR and the BC Mental Health and Substance Use Services Research Institute. Dr. Austin is also a professor in the Department of Medical Genetics and the Department of Psychiatry at UBC\u2019s Faculty of Medicine. Byres is a certified genetic counsellor and the research coordinator of The Rare Disease Discovery Hub at BCCHR.<\/p><\/div>\n<\/div><\/div>\n\n\n

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Dr. Jehannine Austin and Loryn Byres (along with Emily Morris, not pictured) conducted the first-ever study investigating Autistic individuals\u2019 thoughts, feelings, and opinions regarding genetic testing in the context of autism.<\/p><\/div>\n<\/div>\n<\/div><\/div>\n\n\n

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How is genetic testing used in the context of autism?<\/h2>

LB: When it comes to explaining the proposed purposes of genetic testing for autism, it really depends who you ask. Sometimes families are looking for a genetic explanation for their child\u2019s condition. Guilt and self-blame are common for parents in these circumstances, so having that explanation \u2014 knowing that the origin of their child\u2019s condition is genetic and not caused by some environmental or external factor \u2014 can be a huge relief for them.<\/p>

Then there are health-care providers who might order genetic testing to see if a child\u2019s autism diagnosis is associated with co-occurring conditions that may have serious health implications. In these scenarios, results of genetic testing may help predict outcomes and proactively manage these conditions.<\/p>

JA: And psychiatrists and physicians often think that in order to be a good clinician, you need to understand as much as you possibly can about your patient\u2019s condition. So they order genetic testing.<\/p>

Loryn spoke about reasons for parents wanting genetic testing in the context of autism, and I\u2019ll add the issue of family planning. The term \u201cfamily planning\u201d can be used euphemistically, when what we mean is seeking ways \u2014 via genetic testing \u2014 to avoid having Autistic children. Of course, this is devastating for Autistic individuals to hear.<\/p>

LB: Absolutely. And outside of clinical uses for genetic testing in the context of autism, genetic testing is also used in autism-related research. Some individuals participate in this research as a way to contribute to science and medical knowledge, while researchers have all sorts of study-specific reasons for using genetic information in the context of autism. These applications may increase as more autism-related gene variants are discovered.<\/p>

JA: In sum, the reasons for doing genetic testing in this population are incredibly varied, but these reasons are poorly articulated and understood between the various groups that have an interest in it. For these reasons, our team is working to develop a tool to help guide genetic testing conversations in the context of autism. It\u2019s a massive and complicated undertaking, but one that we feel is incredibly important.<\/p><\/div>\n<\/div><\/div>\n\n\n

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\n\t\t\tWhen you\u2019re doing genetic testing in the context of autism, you\u2019re actually testing for genetic conditions such as fragile X syndrome or Rett syndrome \u2014 syndromes where people have a higher chance of also being Autistic. You cannot diagnose autism with genetic testing.\t\t<\/p>\n\t<\/blockquote>\n\t

\n\t\t– Dr. Jehannine Austin\t<\/figcaption>\n<\/figure><\/div>\n<\/div>\n<\/div><\/div>\n\n\n
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Is genetic testing used to diagnose autism in children, adolescents, or adults?<\/h3>

LB: Autism is currently diagnosed based on developmental history and behavioural criteria, for all age groups. Assessors and health-care providers use diagnostic tools such as the Autism Diagnostic Observation Schedule (ADOS) and the Childhood Autism Rating Scale (CARS).<\/p>

JA: When you\u2019re doing genetic testing in the context of autism, you\u2019re actually testing for genetic conditions such as fragile X syndrome or Rett syndrome \u2014 syndromes where people have a higher chance of also being Autistic. You cannot diagnose autism with genetic testing.<\/p>

LB: I\u2019ll add that genetic testing can only identify causative genetic variants related to syndromes, such as fragile X and Rett syndrome, in up to a quarter of Autistic individuals. Individuals with these syndromic forms of autism usually experience higher diagnostic yield with genetic testing than those with non-syndromic autism, or what we call isolated autism. Diagnostic yield refers to the detection rate or number of individuals that can be positively detected for a condition by using a diagnostic test.<\/p>

What inspired the development of your study<\/a>?<\/h3>

LB: To answer this, I\u2019ll need to give a bit of background: Once in my genetic counselling training program, after having worked in a neurodevelopmental research lab, I found myself in clinical settings where people talked a lot about autism and genetics. I quickly became aware of a disconnect between the different groups in the autism space. For example, some researchers and Autistic people could not agree when it came to topics such as language used to talk about autism and worthwhile goals of autism-related research. I think this disconnect really influenced my eventual research focus.<\/p>

When it came time for me to choose a topic to research for my genetic counselling program requirements, I looked through some of the major medical journals to see if anything caught my eye. The first paper I read was about the perspectives of parents on genetic testing for autism. I thought to myself, \u201cThis is useful, but there must also be a paper on Autistic individuals\u2019 perspectives out there somewhere.\u201d<\/p>

So I went digging for that and never found it. In fact, in the process of looking for Autistic perspectives, I found around 20 additional papers on parents\u2019 perspectives and a couple papers about clinicians\u2019 perspectives. This seemed like a major oversight, so I had my subject! Jehannine was very helpful in figuring out how to make it happen.<\/p>

JA: Very kind of you to say. Loryn had a brilliant sense of how we could get it done right from the beginning.<\/p>

What challenges did you experience in developing the study?<\/h3>

LB: In developing the survey, I really had a hard time deciding whether to use person-first language or identity-first language \u2014 in other words, \u201cperson with autism\u201d or \u201cAutistic person,\u201d respectively. Most of the research literature uses person-first language and they even tell you in university classes to use person-first language. But I was hearing the exact opposite from the Autistic community.<\/p>

The compromise we came up with involved developing two different versions of our online survey. This meant that as soon as a person consented to participate, they could choose their preferred language \u2014 person with autism or Autistic person. Then the entire survey would be formatted according to their preference. Ninety-three per cent of our study participants chose the identity-first language version!<\/p><\/div>\n<\/div><\/div>\n\n\n

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Approximately three-quarters of participants thought that genetic testing should only be offered if the Autistic individual is able to consent. Additionally, 93 per cent of Autistic individuals in the study preferred \u201cAutistic person\u201d instead of \u201cperson with autism\u201d \u2014 in other words, identity-first language instead of person-first language.<\/p><\/div>\n<\/div>\n<\/div><\/div>\n\n\n

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What were the main findings of your study?<\/h3>

LB: We found that the majority of Autistic individuals, nearly 75 per cent, thought that genetic testing should only be offered if the Autistic individual is able to consent. And about half, nearly 50 per cent, said they didn\u2019t think genetic testing for autism should be done at all. This is in contrast to what we\u2019re seeing from parents of Autistic children, who mostly support genetic testing. And it\u2019s also in conflict with some of the policies we have regarding when genetic testing for autism should be offered.<\/p>

A lot of the time, the decision to conduct genetic testing is made by other people who have the Autistic child\u2019s best interests in mind, but they don\u2019t realize the ways the decision might undermine the Autistic individual\u2019s autonomy. We have to really think about the benefits to the child whenever we\u2019re considering pediatric genetic testing.<\/p>

What study results are you most excited to share?<\/h3>

LB: In addition to sharing that 93 per cent of our participants preferred identity-first language, I\u2019m most excited to share the results from a separate section of questions we developed that were not covered in the survey section. While the survey section comprised multiple choice, Likert scale<\/a>, and visual analog scale<\/a> questions, the separate section allowed participants to write free-form responses. We ended up with 68,000 words of text! We are now doing an in-depth content analysis of this data, the results of which we intend to publish separately.<\/p>

JA: In recalling our first look at what people had written in their free-form responses, many \u2014 spontaneously and without prompting \u2014 used the word \u201ceugenics\u201d to talk about how they saw genetic testing in the context of autism. The participants articulated really complex ideas absolutely beautifully.<\/p>

LB: Yes! Participants simultaneously articulated concerns about eugenics and genetic testing prenatally for autism, while also expressing a pro-choice stance and supporting women\u2019s right to choose.<\/p>

Read the original story on bcchr.ca<\/a>.<\/p><\/div>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"

For the first time, Autistic individuals have been asked to share with researchers what they think and feel about genetic testing in the context of autism. Previous research has instead focused on the thoughts, feelings, and opinions of Autistic individuals\u2019 parents, caregivers, and health-care providers.<\/p>\n","protected":false},"author":2,"featured_media":1484,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"","_lmt_disable":"","inline_featured_image":false,"footnotes":"","fndry_alternate_title":""},"categories":[15],"tags":[19,20,13],"class_list":["post-1470","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","tag-autism","tag-autistic","tag-genetic-testing"],"modified_by":"Andrea Sakamoto","_links":{"self":[{"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/posts\/1470","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/comments?post=1470"}],"version-history":[{"count":3,"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/posts\/1470\/revisions"}],"predecessor-version":[{"id":2675,"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/posts\/1470\/revisions\/2675"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/media\/1484"}],"wp:attachment":[{"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/media?parent=1470"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/categories?post=1470"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.bcchr.ca\/tgrc\/wp-json\/wp\/v2\/tags?post=1470"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}