Journal Article

What are the Informational Preferences about Genetic Testing of Parents with Children with Autism Spectrum Disorder?

Fanny Lacelle-Webster, Rinita Mazumder, Sandy Hodgetts and Lonnie Zwaigenbaum

in Paediatrics & Child Health

Published on behalf of Canadian Paediatric Society

Volume 23, issue suppl_1 Published in print May 2018 | ISSN: 1205-7088
Published online May 2018 | e-ISSN: 1918-1485 | DOI: https://dx.doi.org/10.1093/pch/pxy054.097
What are the Informational Preferences about Genetic Testing of Parents with Children with Autism Spectrum Disorder?

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  • Neonatology
  • Primary Care
  • Child and Adolescent Psychiatry
  • Clinical Child and Adolescent Psychology
  • Developmental Psychology

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Abstract

BACKGROUND

Autism Spectrum Disorder (ASD) affects more than 1% of the population. In 2009, the Canadian College of Medical geneticists recommended genome-wide microarray analysis as a first-line investigation for children with a diagnosis of ASD.

OBJECTIVES

The purpose of this study is to explore experiences and preferences of parents with children with ASD regarding information about genetic testing.

DESIGN/METHODS

In this mixed method study, parents of children with a diagnosis of ASD (age 2 to 17 years) were recruited through advertisements on websites and Facebook pages of community partners. The first step was an on-line survey housed on a secure web-based platform. In addition to demographic data, the survey collected information about the experiences and informational preferences of the parents about genetic testing. A subset of participants, based on expressed interest, participated in an in-person semi-structured interview. All interviews were recorded, transcribed and coded for major themes and sub-themes.

RESULTS

A total of 31 participants responded to the survey and 5 interviews were completed. Their children had received their diagnosis between 2004 and 2017. The online survey revealed that 69% of participants were aware of genetic testing and 38% had genetic testing completed. Overall, 94% wanted to have more information about genetic testing; notably, only 25% had heard about microarray. Receiving information about genetic testing was preferred in a follow up appointment by 56% of participants, but 28% preferred to receive information on the date of ASD diagnosis. Most participants (81%) identified their community paediatrician as the preferred physician to discuss genetic testing with them. Almost all interview participants were concerned that the information from genetic testing could be detrimental to their child, noting, for example, potential difficulties obtaining insurance coverage. Some shared their concerns regarding their paediatrician’s knowledge about genetic testing and ASD; in fact, two families decided to change to a new paediatrician to fulfill their needs of information about ASD and genetic testing.

CONCLUSION

This study showed that parents of children with ASD are globally interested to learn more about genetic testing, with their paediatrician being their preferred resource. For that reason, it appears important that paediatricians be aware of the recommended investigations for children with ASD and have a good understanding of the implications of genetic testing.

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Subjects: Neonatology ; Primary Care ; Child and Adolescent Psychiatry ; Clinical Child and Adolescent Psychology ; Developmental Psychology

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