Systematic Reviews
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Psychiatry. May 19, 2023; 13(5): 247-261
Published online May 19, 2023. doi: 10.5498/wjp.v13.i5.247
Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review
Meng Zhou, Ya-Min Zhang, Tao Li
Meng Zhou, Ya-Min Zhang, Tao Li, Department of Neurobiology, Affiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou 310013, Zhejiang Province, China
Ya-Min Zhang, Tao Li, Liangzhu Laboratory, MOE Frontier Science Center for Brain Science and Brain-machine Integration, State Key Laboratory of Brain-machine Intelligence, Zhejiang University, Hangzhou 310013, Zhejiang Province, China
Ya-Min Zhang, Tao Li, NHC and CAMS Key Laboratory of Medical Neurobiology, Zhejiang University, Hangzhou 310013, Zhejiang Province, China
Author contributions: Zhou M and Zhang YM contributes equally to this paper. Zhang YM and Zhou M provide the conceptualization; Zhang YM and Zhou M contributed to the methodology, literature searching, data extraction; Li T contributed to the administration resources, and supervision; Zhou M contributed to writing the original draft; Zhang YM and Li T contributed to reviewing the draft; all authors have read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81920108018 (Li T and Sham P), No. 82001409 (Zhang YM), the Key R & D Program of Zhejiang, No. 2022C03096 (Li T); Project for Hangzhou Medical Disciplines of Excellence.
Conflict-of-interest statement: There is no conflicts of interest for this article.
PRISMA 2009 Checklist statement: The authors have read the PRISMA 2009 Checklist, and the manuscript was prepared and revised according to the PRISMA 2009 Checklist.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Tao Li, MD, PhD, Academic Research, Professor, Department of Neurobiology, Affiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, No.305 Tianmushan Road, Hangzhou 310013, Zhejiang Province, China. litaozjusc@zju.edu.cn
Received: December 30, 2022
Peer-review started: December 30, 2022
First decision: March 1, 2023
Revised: March 10, 2023
Accepted: April 17, 2023
Article in press: April 17, 2023
Published online: May 19, 2023
Processing time: 140 Days and 8.8 Hours
Abstract
BACKGROUND

Several genetic testing techniques have been recommended as a first-tier diagnostic tool in clinical practice for diagnosing autism spectrum disorder (ASD). However, the actual usage rate varies dramatically. This is due to various reasons, including knowledge and attitudes of caregivers, patients, and health providers toward genetic testing. Several studies have therefore been conducted worldwide to investigate the knowledge, experiences, and attitudes toward genetic testing among caregivers of children with ASD, adolescent and adult ASD patients, and health providers who provide medical services for them. However, no systematic review has been done.

AIM

To systematically review research on knowledge, experiences, and attitudes towards genetic testing among caregivers of children with ASD, adolescent and adult ASD patients, and health providers.

METHODS

We followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and searched the literature in three English language databases (PubMed, Web of Science, and PsychInfo) and two Chinese databases (CNKI and Wanfang). Searched literature was screened independently by two reviewers and discussed when inconsistency existed. Information on characteristics of the study, characteristics of participants, and main findings regarding knowledge, experience, and attitudes of caregivers of children with ASD, adolescent and adult ASD patients, and health providers concerning ASD genetic testing were extracted from included papers into a charting form for analysis.

RESULTS

We included 30 studies published between 2012 and 2022 and conducted in 9 countries. Most of the studies (n = 29) investigated caregivers of children with ASD, one study also included adolescent and adult patients, and two covered health providers. Most (51.0%-100%) of the caregivers/patients knew there was a genetic cause for ASD and 17.0% to 78.1% were aware of ASD genetic testing. However, they lacked full understanding of genetic testing. They acquired relevant and necessary information from physicians, the internet, ASD organizations, and other caregivers. Between 9.1% to 72.7% of caregivers in different studies were referred for genetic testing, and between 17.4% to 61.7% actually obtained genetic testing. Most caregivers agreed there are potential benefits following genetic testing, including benefits for children, families, and others. However, two studies compared perceived pre-test and post-test benefits with conflicting findings. Caregivers concerns included high costs, unhelpful results, negative influences (e.g., causing family conflicts, causing stress/risk/pain to children etc.) prevented some caregivers from using genetic testing. Nevertheless, 46.7% to 95.0% caregivers without previous genetic testing experience intended to obtain it in the future, and 50.5% to 59.6% of parents previously obtaining genetic testing would recommend it to other parents. In a single study of child and adolescent psychiatrists, 54.9% of respondents had ordered ASD genetic testing for their patients in the prior 12 mo, which was associated with greater knowledge of genetic testing.

CONCLUSION

Most caregivers are willing to learn about and use genetic testing. However, the review showed their current knowledge is limited and usage rates varied widely in different studies.

Keywords: Autism spectrum disorder; Genetic testing; caregivers; Child and adolescent psychiatrists; Knowledge; Experience; Attitudes

Core Tip: More action should be taken to improve the knowledge level about genetic testing among caregivers of patients with autism spectrum disorder (ASD). Health education from health providers such as physicians and psychiatrists appear the most effective method. Improving the knowledge level of ASD genetic testing among health providers is necessary for better utilization of genetic testing in ASD practice. Caregivers of patients with ASD and patients themselves generally hold a positive attitude toward genetic testing. More comprehensive knowledge is needed to avoid potential misunderstandings.