{"id":2058,"date":"2025-04-03T15:34:31","date_gmt":"2025-04-03T15:34:31","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2058"},"modified":"2026-02-22T01:13:00","modified_gmt":"2026-02-22T01:13:00","slug":"clinical-utility-of-genome-sequencing-in-autism-illustrative-examples-from-a-genomic-research-study","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/04\/03\/clinical-utility-of-genome-sequencing-in-autism-illustrative-examples-from-a-genomic-research-study\/","title":{"rendered":"Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study (Contributed by Professor Stephen W. Scherer)"},"content":{"rendered":"

Genome sequencing identifies the genetic origin of autism in ~20% individuals having a diagnosis. Knowing the genetic factors involved can end long diagnostic \u2018odysseys\u2019 seeking causation and as well help doctors tailor care and test for other health conditions. Some families choose not to pursue testing, possibly due to a lack of real-life examples of the value. Here we discuss the findings from 100 families enrolled in a research study using genome sequencing where a genetic finding helped the family including through genetic counselling benefits. This study provides concrete examples of how genetic results can benefit the autism community. (https:\/\/jmg.bmj.com\/content\/early\/2025\/04\/01\/jmg-2024-110463<\/a> )<\/p>\n

\"\"<\/a><\/p>\n

Some of the authors from left to right: Ege Sarikaya, Ny Hoang, Thanuja Selvanayagam, Christian Marshall, Stephen Scherer<\/p>\n","protected":false},"excerpt":{"rendered":"

Genome sequencing identifies the genetic origin of autism in ~20% individuals having a diagnosis. Knowing the genetic factors involved can end long diagnostic \u2018odysseys\u2019 seeking causation and as well help doctors tailor care and test for other health conditions. Some families choose not to pursue testing, possibly due to a lack of real-life examples of […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2058","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nClinical utility of genome sequencing in autism: illustrative examples from a genomic research study (Contributed by Professor Stephen W. Scherer) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/04\/03\/clinical-utility-of-genome-sequencing-in-autism-illustrative-examples-from-a-genomic-research-study\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study (Contributed by Professor Stephen W. Scherer) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genome sequencing identifies the genetic origin of autism in ~20% individuals having a diagnosis. Knowing the genetic factors involved can end long diagnostic \u2018odysseys\u2019 seeking causation and as well help doctors tailor care and test for other health conditions. Some families choose not to pursue testing, possibly due to a lack of real-life examples of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/04\/03\/clinical-utility-of-genome-sequencing-in-autism-illustrative-examples-from-a-genomic-research-study\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-04-03T15:34:31+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:13:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2025\/04\/SickKids_jmg-2024-110463.R2-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1709\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/04\\\/03\\\/clinical-utility-of-genome-sequencing-in-autism-illustrative-examples-from-a-genomic-research-study\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/04\\\/03\\\/clinical-utility-of-genome-sequencing-in-autism-illustrative-examples-from-a-genomic-research-study\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study (Contributed by Professor Stephen W. 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