Abstract
Objective: To perform a systematic literature review of the psychosocial impacts on parents and autistic people of receiving autism-related genetic test results.
Method: Systematic searches of MEDLINE, PsycINFO, CINAHL, Web of Science Core Collection, Sociological Index, and Scopus were conducted for articles appearing through October 27, 2024. The authors screened 3,606 articles. The quality of the included articles was assessed with the QuADS appraisal tool.
Results: Twenty-two articles met inclusion criteria. Across research and clinical settings, articles assessed impacts of receiving actual (n=18) or hypothetical (n=4) genetic test results. Twenty articles assessed impacts on parents and prospective parents, while two assessed impacts on autistic adults. Psychological impacts of receiving results varied and included relief, peace of mind, reduced guilt, disappointment, fear, frustration, stress, blame, and guilt. Comparison of the frequencies of these responses was limited by heterogeneous assessment methods, variable reporting formats, and inconsistent outcome measures across studies. Receiving results sometimes confirmed diagnoses, led to altered care plans, influenced family planning, or impacted the decision to end or continue a pregnancy. Most articles reported low-to-mild or highly variable satisfaction with the testing experience. Studies of autistic adults reported strong concerns about testing without consent and discriminatory uses of genetics.
Conclusion: Impacts on parents and prospective parents appear relatively modest, albeit with mixed valences-a finding broadly similar to return-of-results studies for other complex genetic conditions. Although the findings of the two studies of autistic adults differ substantially, they suggest that autistic people and current and prospective parents of autistic children may have significantly different experiences and perspectives. Clinicians should recognize these differences and help parents understand and weigh them in decision-making.
Study registration information: Systematic Review of the Psychosocial and Behavioral Impacts of Returning Genetic Results for Autism Spectrum Disorder; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=258842