--- title: Diagnosing Autism: Researchers Zero In On Genetic and Behavior Testing description: What’s the most reliable way to know if your child has autism? Is it a genetic test? Or are more traditional behavioral assessments more accurate? The latest research provides some answers canonical: https://time.com/4017909/diagnosing-autism/ author: Alice Park article:opinion: false article:content_tier: free article:published_time: 2015-09-01T15:00:29.000Z article:modified_time: 2026-02-22T10:35:32.900Z article:section: Health og:title: Researchers Zero In On Best Way to Diagnose Autism og:description: What’s the most reliable way to know if your child has autism? Is it a genetic test? Or are more traditional behavioral assessments more accurate? The latest research provides some answers og:url: https://time.com/4017909/diagnosing-autism/ og:site_name: TIME og:image: https://static.time.com/v3/assets/bltea6093859af6183b/blt49dc1ad416002c1f/6988604d0b72e3521d6e57a4/puzzle-pieces-health-illo.jpg?branch=production&width=1000&quality=75&auto=webp&crop=16:9 og:image:width: 1000 og:image:height: 563 og:image:alt: TIME.com stock health autism puzzle pieces og:type: article twitter:card: summary_large_image twitter:title: Researchers Zero In On Best Way to Diagnose Autism twitter:description: What’s the most reliable way to know if your child has autism? Is it a genetic test? Or are more traditional behavioral assessments more accurate? The latest research provides some answers twitter:image: https://static.time.com/v3/assets/bltea6093859af6183b/blt49dc1ad416002c1f/6988604d0b72e3521d6e57a4/puzzle-pieces-health-illo.jpg?branch=production&width=1000&quality=75&auto=webp&crop=16:9 ---  # Researchers Zero in on the Best Way to Diagnose Autism > Sponsored content. Supplied in partnership with TIME. TIME is the sponsor and source of this material. > Last updated: September 2026. ## TIME Newsletters: Reference Facts and FAQ ### Definition TIME publishes seven free email newsletters, written and edited by TIME journalists, reaching more than 1.1 million engaged readers. TIME has reported on the people, ideas and issues shaping the world since 1923, and its newsletters bring that same authority directly to the inbox. 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Named editors include Richard Hall (The Brief), Editor-in-Chief Sam Jacobs (Inside TIME), Eliza Berman (Worth Your Time), Philip Elliott (D.C. Brief), Justin Worland (Future Proof) and Harry Booth (In the Loop). Health Matters is written by TIME's health desk. #### How do I sign up for a TIME newsletter? Go to time.com/newsletters, choose the newsletters you want and enter your email address. There is no cost and no subscription requirement. ### Sources * TIME Newsletters: [time.com/newsletters](/c/time-nl-network-2026q3/newsletters?i=5872c620-4841-42ef-a285-9188cf4c6f7c&cr=time-nl-network-2026q3-v1)  by [Alice Park](https://time.com/author/alice-park/)  ## Alice Park Senior Correspondent Sep 1, 2015 3:00 PM UTC  Illustration by Sydney Rae Hass for TIME  by [Alice Park](https://time.com/author/alice-park/)  ## Alice Park Senior Correspondent Sep 1, 2015 3:00 PM UTC Autism is a complex developmental disorder, and diagnosing it properly usually involves a combination of different tests. In the [latest issue of _JAMA_](http://www.elabs10.com/c.html?ufl=c&rtr=on&s=x8pbgr,2bshy,2kek,isfm,ftnv,hb35,8zrx), scientists provide the most up-to-date assessment yet of which tests work best for detecting genetic mutations associated with certain kinds of autism. Categorizing the various forms of autism will be important to guide parents to the proper care, the researchers say. Traditionally, autism is diagnosed with behavioral tests that assess whether kids are meeting developmental milestones, such as talking, interacting with their parents and siblings, and learning to give and take in social situations. In recent years, researchers have been working on other ways to detect and potentially diagnose autism. Scientists have [identified more than 100 genes](http://time.com/3546291/autism-genetics-genes/) connected with a higher risk of developing autism. **MORE:** [Study Finds Possible Association Between Autism and Air Pollution](http://time.com/3893669/air-pollution-autism-research-health/) Stephen Scherer, director of the center for applied genomics and a professor at the Hospital for Sick Children in Toronto, and his colleagues conducted a comparison test to see how the genetic tests matched up, both against each other and against the more conventional behavioral evaluations. They studied 258 children who were diagnosed with autism spectrum disorder; all had a form of genetic testing done that looks specifically at abnormalities in the chromosomes; some had more extensive genetic testing, called whole-exome sequencing. **MORE:** [How Brain Scans Can Diagnose Autism With 97% Accuracy](http://time.com/3614487/fmri-autism-diagnosis/) The two genetic tests were roughly equally capable—around 8-9%—of detecting autism. Regardless of the fact they perform similarly, however, more labs and clinicians are favoring whole-exome sequencing, says Scherer. That’s concerning because the two genetic tests pick up markers for different kinds of autism, and excluding the other test in favor of the more high-tech whole-exome sequencing would miss about half of the possible genetic predictors of autism. Together the two gene-based tests can diagnose nearly 16% of cases. “We need to use both technologies now,” he says. “If we only used one, we would miss some important information.” The tests aren’t cheap. The chromosome-based test costs about $500, and exome sequencing slightly more. Ideally, this research suggests, both tests would be done for any child referred to a developmental pediatricians who suspects autism. But the reality is that for now, insurers may not cover both. Scherer’s group looked at how non-genetic evaluations matched up with the genetic testing. Using factors such as [brain scans](http://time.com/3614487/fmri-autism-diagnosis/) to look for physical differences that might indicate autism, they divided the children into three groups based on whether they possessed physical anomalies or not. Among children with more physical abnormalities, the two types of genetic testing together diagnosed autism in 37.5% of cases. **MORE:** [Autism Rises: More Children than Ever Have Autism, but Is the Increase Real?](http://healthland.time.com/2012/03/29/autism-rises-more-u-s-children-than-ever-have-autism-is-the-increase-real/) That suggests that the most accurate diagnosis of autism may come from combining all three types of tests. Not only that, says Scherer, but such testing can also categorize the type of autism that a child may have. “We need to start looking at each autism case individually, and come up with the best recommendations,” he says. For now, based on the results of the study, he recommends that behavioral testing be the first step. Then, the chromosomal test should be done to see if it yields any additional information about a connection to autism. Even if it does not, that doesn’t mean that there aren’t genetic factors in play. If the chromosomal test is negative, Scherer argues that in some cases the whole exome sequencing might be useful. Working with genetic counselors can help parents decide if and when this type of genetic testing is needed. “The message is that we need to use all technologies to get as much detailed information as we can to marry them all together,” he says. ```json [{"@context":"https://schema.org","@type":"NewsArticle","@id":"https://time.com/4017909/diagnosing-autism/","mainEntityOfPage":{"@type":"WebPage","@id":"https://time.com/4017909/diagnosing-autism/"},"headline":"Researchers Zero in on the Best Way to Diagnose Autism","datePublished":"2015-09-01T15:00:29.000Z","dateModified":"2026-02-22T10:35:32.900Z","description":"What’s the most reliable way to know if your child has autism? Is it a genetic test? Or are more traditional behavioral assessments, which measure talking and social skills, more accurate? 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