Special report: Genetic testing for autism

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Portrait of boy with autism

Why genetic tests matter for autistic people

Genetic tests for people with autism are far from routine and don't always yield results, but the information they offer can change lives.

By Jessica Wright
30 January 2019 | 13 min read
Gabin and his father at home in Paris.

Europe’s race to ramp up genetic tests for autism

Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.

By Marta Zaraska
13 February 2019 | 14 min read
children playing at a genetic family group meeting

How families are driving the study of autism genes

Parents of children with rare autism-linked mutations are banding together for support and to join forces with scientists, accelerating the pace of research.

By Jessica Wright
10 April 2019 | 14 min read
Illustration of a human fetus in a screening test

Prenatal sequencing for some autism genes may soon be available

Two new studies point to the possibility of detecting autism mutations before birth — along with all the ethical and logistical problems that may bring.

By Jessica Wright
10 April 2019 | 5 min read
Hands on background of microarray and other genetic information

Genetic testing for autism, explained

No genetic test can say whether a person has autism, but it may point to a cause for the condition or for any related complications.

By Jessica Wright
10 April 2019 | 5 min read
human making connections

Sharing genetic results can advance autism science, medical care

People with autism and their families can be important partners in understanding the genetics of autism by agreeing to share their genetic data.

By Christa Lese Martin, Juliann Savatt
9 April 2019 | 5 min read
Spectrum stories podcast logo.

Spectrum Stories: The benefits of genetic testing in autism

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

By Ben Kuebrich
18 March 2019 | 1 min read
A woman peers through a wall made to look like a genetic sequencing background, through a missing area.

Counseling can ease shock of unexpected genetic results

The best way to deliver surprises from genetic findings is to provide adequate information and counseling alongside the results.

By Eric Schadt
23 October 2018 | 6 min read

From the archives

Genetic testing, counseling crucial in people with developmental delay

Referring children with developmental delay to a clinical geneticist for testing and counseling helps families and advances research.

By Silvia De Rubeis, Paige Siper
19 June 2018 | 5 min read
'crystal ball' of genetic prediction

Genetic risk ‘scores’ may help forecast autism diagnosis

A count of genetic variants may help predict a person’s risk of various conditions — but its clinical use prompts ethical questions.

By Tom Richardson
5 February 2019 | 4 min read

For accurate results in autism, genetic databases need diversity

We must diversify databases of reference DNA to improve our ability to interpret the consequences of genetic variation.

By Stormy Chamberlain, Louisa Kalsner
10 April 2018 | 5 min read

Family groups play key role in advancing autism research

Families need more support from researchers in order for their heroic efforts to be optimally effective.

By Stephan J. Sanders
27 June 2017 | 6 min read

Studies unveil hidden ties between epilepsy gene and autism

Over the past year, HNRNPU, a gene well known for its link to epilepsy, has emerged as a new autism candidate.

By Jessica Wright
23 July 2018 | 5 min read
Woman's face with the eyes covered by hand shapes, with a DNA helix in the background, and a judge's gavel.

Patent on autism genetic test may stifle science

A patent on variants in an autism gene is unlikely to hold up in court, but may still hinder research, some experts say.

By Jessica Wright
17 May 2018 | 5 min read

Precocious baby teeth signal rare form of autism

Most children with a rare autism-linked mutation develop baby teeth one to two years earlier than usual.

By Jessica Wright
20 April 2017 | 5 min read

Genetics first: A fresh take on autism’s diversity

Each child with autism is different from the next. One approach rapidly gaining momentum makes sense of this diversity by grouping children together based on their genetics, then looking for patterns in their symptoms. The long-term aim: personalized treatments for each subtype of autism.

By Sarah DeWeerdt
24 November 2014 | 4 min read

Explore more from The Transmitter

Illustration of an open book with the pages creating a brain shape, and with a tassel resembling a DNA sequence.

Open-access neuroscience comes to the classroom: Q&A with Liz Kirby

Neuroscience textbooks can be prohibitively expensive for some undergraduate students. A new open-access alternative seeks to change that.

By Francisco J. Rivera Rosario
13 December 2024 | 6 min read
Black-and-white image of cubes floating out of the bottom half of a human head.

Solving intelligence requires new research and funding models

Our research ecosystem isn't built to deliver the breakthroughs needed to understand intelligence at scale. We need a dedicated research institution to take up the task.

By David A. Markowitz
13 December 2024 | 6 min read
Research image of brain scans.

Impaired molecular ‘chaperone’ accompanies multiple brain changes, conditions

Rare genetic variants in a protein-folding complex contribute to a spectrum of phenotypes that encompass brain malformations, intellectual disability, autism and seizures, according to a new “hallmark” study.

By Holly Barker
12 December 2024 | 5 min read