Service Delivery

Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample.

Ayhan et al. (2021) · Journal of autism and developmental disorders 2021
★ The Verdict

Most families skip free post-ASD genetic testing unless the doctor spells out the point, and even then clear answers are rare.

✓ Read this if BCBAs who attend diagnostic feedback meetings or help families navigate next steps after an autism diagnosis.
✗ Skip if Clinicians only providing therapy with no role in medical referral or family guidance.

01Research in Context

01

What this study did

Ayhan et al. (2021) asked Turkish parents of children with autism if they used free genetic testing offered right after diagnosis.

They counted how many families said yes and asked what pushed them to do it.

02

What they found

Only one in three families went ahead with the free test.

The biggest reason was the doctor plainly telling them why the test could help.

03

How this fits with other research

McCormick et al. (2025) extends this idea: moms will swab saliva or clip hair at home for autism research if you keep it quick and explain the goal.

Ohashi et al. (2021) adds a hard truth: even when families do test, only one in ten non-syndromic cases get clear answers.

Together the three papers show a chain: low clinic uptake, possible home fix, but still modest medical payoff.

04

Why it matters

When you sit with a family post-diagnosis, plainly state what genetic testing can and cannot tell them. Offer a home kit if they balk at the lab, but also share that answers may be limited so they keep realistic hopes.

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Add a one-page handout that lists three concrete reasons genetic testing may help the child's care plan and give families a stamped envelope option for home saliva collection.

02At a glance

Intervention
not applicable
Design
survey
Sample size
114
Population
autism spectrum disorder
Finding
not reported

03Original abstract

There is broad consensus about the importance of post-diagnostic genetic testing for children with ASD. However, the extent of compliance with these tests and the factors affecting compliance have rarely been examined. We surveyed a sample of 114 families with a child with ASD in Israel, where such genetic testing is funded by the government. We found that only one-third of these families completed post-diagnosis genetic testing for their child. The main factor influencing compliance was the doctor's recommendation (OR 11.6; 95% CI 3.2-42.4; p < 0.001). Furthermore, > 50% of the non-compliant families reported that genetic testing was irrelevant to them. Our findings highlight the importance of providing clear recommendations and explanations regarding the benefits and relevance of post-diagnosis genetic testing for children with ASD.

Journal of autism and developmental disorders, 2021 · doi:10.1007/s10803-019-04200-z