Evidence map›Paper›PMID 40619096›Full record

SynthesisJournal of the American Academy of Child and Adolescent Psychiatry2026

Systematic Review: The Psychosocial Impacts of Autism-Related Genetic Testing.

Ben Curran Wills, Margaret M Matthews, Josephine Johnston, Isabel Bolo, Ruth Ottman, Paul S Appelbaum

Abstract readSystematic ReviewReview
In one paragraph

Synthesis in Journal of the American Academy of Child and Adolescent Psychiatry, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Ben Curran WillsUniversity of California San Diego, La Jolla, California; At the time of the study: The Hastings Center, Garrison, New York; At the time of the study: Georgia Institute of Technology, Atlanta, Georgia. Electronic address: bwills@ucsd.edu.
Margaret M MatthewsAt the time of the study: The Hastings Center, Garrison, New York; Harvard University, Cambridge, Massachusetts.
Josephine JohnstonAt the time of the study: The Hastings Center, Garrison, New York; University of Otago, Dunedin, New Zealand.
Isabel BoloAt the time of the study: The Hastings Center, Garrison, New York; At the time of the study: Columbia University, New York, New York.
Ruth OttmanColumbia University, New York, New York; New York State Psychiatric Institute, New York, New York.
Paul S AppelbaumColumbia University, New York, New York; New York State Psychiatric Institute, New York, New York.

Funding

Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral GeneticsP50HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2013 to 2017
$5.4M
Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral GeneticsRM1HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2018 to 2021
$4.4M
NHGRI NIH HHS P50 HG007257NHGRI NIH HHS RM1 HG007257
6 · The paper itself

Abstract

objectiveTo perform a systematic literature review of the psychosocial impacts on parents and autistic people of receiving autism-related genetic test results.

methodSystematic 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 Quality Appraisal for Diverse Studies (QuADS) appraisal tool.

resultsInclusion criteria were met by 22 articles. Across research and clinical settings, articles assessed impacts of receiving actual (18 articles) or hypothetical (4 articles) genetic test results. Twenty articles assessed impacts on parents and prospective parents, whereas 2 articles 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.

conclusionImpacts on parents and prospective parents appeared to be relatively modest, albeit with mixed valences-a finding broadly similar to studies addressing return of results for other complex genetic conditions. Although the findings of the 2 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. PLAIN LANGUAGE SUMMARY: This review analyzed the impact on patients and their families receiving genetic test results about autism using data from 22 studies. Psychological impacts of receiving results varied and included relief, peace of mind, reduced guilt, disappointment, fear, frustration, stress, blame, and guilt. Methods and results varied widely, making it hard to compare studies. The study also indicated the need for more research with and for autistic people, including children when possible. 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.

Indexed as

Autism Spectrum DisorderAutistic DisorderGenetic TestingParentsAdultHumansautismgenetic testingpsychosocial impactsreturn of resultssystematic review

Identifiers

PMID40619096
PMCPMC12303367

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.