Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study

Abstract

Background

Autism self-advocates’ views regarding genetic tests for autism are important, but critical questions about their perspectives arise.

Methods

We interviewed 11 autism self-advocates, recruited through autism self-advocacy websites, for 1 h each.

Results

Interviewees viewed genetic testing and its potential pros and cons through the lens of their own indiviudal perceived challenges, needs and struggles, especially concerning stigma and discrimination, lack of accommodations and misunderstandings from society about autism, their particular needs for services, and being blamed by others and by themselves for autistic traits. Their views of genetic testing tended not to be binary, but rather depended on how the genetic test results would be used. Interviewees perceived pros of genetic testing both in general and with regard to themselves (e.g., by providing “scientific proof” of autism as a diagnosis and possibly increasing availability of services). But they also perceived disadvantages and limitations of testing (e.g., possible eugenic applications). Participants distinguished between what they felt would be best for themselves and for the autistic community as a whole. When asked if they would undergo testing for themselves, if offered, interviewees added several considerations (e.g., undergoing testing because they support science in general). Interviewees were divided whether a genetic diagnosis would or should reduce self-blame, and several were wary of testing unless treatment, prevention or societal attitudes changed. Weighing these competing pros and cons could be difficult.

Conclusions

This study, the first to use in-depth qualitative interviews to assess views of autism self-advocates regarding genetic testing, highlights key complexities. Respondents felt that such testing is neither wholly good or bad in itself, but rather may be acceptable depending on how it is used, and should be employed in beneficial, not harmful ways. These findings have important implications for practice, education of multiple stakeholders, research, and policy.

Keywords:

• Advocacy
• autism
• bioethics
• eugenics
• genetics

Acknowledgments

The authors would like to thank Nicole Chin, Maya Sabatello and Julia Wynn for their assistance with data analysis, and Beverly Gu, Timothy Keith Hung and especially Patricia Contino for their assistance with the preparation of the manuscript.

Author’s Contribution

Robert Klitzman: Design of study, Conducting of interviews and Drafting and Revising manuscript. Ekaterina Bezborodko: Assistance with analysis of data. Wendy K. Chung: Initial conceptualization of study and assistance with composition of manuscript. Paul S. Appelbaum: Initial conceptualization of study and paper and participation in interviews and drafting and revising manuscript. The first draft of the manuscript was written by Robert Klitzman and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The data that support the findings of this study are available to qualified researchers from the corresponding author upon reasonable request.

Additional information

Funding

The research leading to these results received funding from National Human Genome Research Institute (NHGRI), CEER: Paul Appelbaum (PI), Wendy Chung, Ruth Ottman, Maya Sabatello and other CEER investigators and SPARK: Simons Powering Autism Research.