Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study.
Anna Hellquist, Kristiina Tammimies
PMID 34961350WHAT IT FOUND
Families and autistic adults in Sweden reported low use of genetic testing after an autism diagnosis.
Many had not been referred, and few believed testing was available.
Key findings
01In the parent survey, 9.1% said their child had been offered a referral for genetic testing, and 1.8% had requested one themselves.
02In the autistic adolescent and adult survey, 2.8% reported receiving a referral for genetic testing, and 3.8% had requested one themselves.
03Among respondents who had not been referred or had not requested testing, 16.2% of parents and 19.6% of autistic adolescents or adults believed genetic testing was available.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study used self-reported survey answers, so families may have misunderstood whether a child had clinical genetic testing or a genetic research study. Some adolescents or adults appear to have been referred for behavioral evaluation rather than genetic testing, which may have affected the reported referral numbers. Recruitment was mainly through online channels, which may have attracted people already interested in genetic testing or families with children who had more needs. Most respondents were from the Stockholm region, so other regions may be underrepresented. Only a small number of children and very few adolescents or adults were referred for testing, so detailed comparisons within those groups were limited. Some respondents did not finish all questions, which may have affected the results. The study did not use national patient records or healthcare provider data, so it may not show the full picture of genetic testing access in Sweden.
Declared interests
One author, Dr. A.H., is employed by iCellate Medical AB, and the paper says the company did not influence the study. The study was financed by Hjärnfonden and the Swedish Foundation for Strategic Research.
The easy way to misread this
Do not read the low referral rate as proof that genetic testing is unavailable or unhelpful. This survey reports what families said about access and awareness, not a test of whether genetic testing improves care.