Provision of Genetic Services for Autism and its Impact on Spanish Families.
Marta Codina-Solà, Luis A Pérez-Jurado, Ivon Cuscó and 1 others
PMID 28681252WHAT IT FOUND
Only 31% of families of children with autism spectrum disorders had visited a genetic service, despite 95% interest. 31% estimated recurrence risk at exactly 50%, and 18.5% estimated it higher than 50%, while being counseled by genetics professionals was associated with lower reported risk.
Key findings
01Only 31% (40/130) of parents had visited a genetic service; 22% knew the clinical geneticist role and 8% knew the genetic counselor role.
02Interest in genetics was high: 95% (123/130) wanted a clinical genetics visit and 94% (122/130) wanted further genetic testing.
03Recurrence risk estimates were often high: 31% (40/130) said exactly 50% and 18.5% (24/130) said higher than 50%; parents counseled by genetics professionals reported lower numerical risk (21 ± 29% compared with 39 ± 25%).
STILL TO COME
How it was doneWhat they found
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What it does not show
The survey was voluntary and reached parents through family associations, so it may have included more informed families than the wider population. Only 130 of 430 invited families completed the survey, a 29% response rate. One parent answered for each family, so it may not capture both parents' views. The sample came from Catalonia, Spain, so it may not represent other regions or countries. This was a survey, so it cannot show that genetic counseling caused lower risk estimates. Some parents may not have shared genetic test results, so risk figures could be slightly overestimated.
Declared interests
The study was funded by Ministerio de Economía y Competitividad, Agència de Gestió d’Ajuts Universitaris i de Recerca, Generalitat de Catalunya, and Instituto de Salud Carlos III. The supplied text does not report commercial sponsorship or author conflicts of interest.
The easy way to misread this
Do not conclude that genetic counseling caused lower recurrence-risk estimates. This is a voluntary survey of 130 families, and the association could reflect families who sought genetics services being more informed.