Parental perceptions of genetic testing for children with autism spectrum disorders.

Autor: Lucas HM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Maternal Fetal Medicine, Christus Mother Frances Hospital, Tyler, Texas, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Lupo PJ; Maternal Fetal Medicine, Christus Mother Frances Hospital, Tyler, Texas, USA.; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA., Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 178-186. Date of Electronic Publication: 2021 Sep 25.
DOI: 10.1002/ajmg.a.62517
Abstrakt: Children with autism spectrum disorder (ASD) routinely undergo genetic testing (GT) to identify the causative genetic etiology of their ASD. As there are questions about the impact of GT beyond clinical diagnosis, we conducted a mixed methods study to assess the perceived benefits of GT by exploring factors that lead parents to pursue these tests and the benefits experienced. Respondents were part of a pretest or posttest group. The pretest group (N = 22) expressed intent to pursue GT and the posttest group (N = 32) had undergone GT and received results at least 3 months prior to completing the survey. Responses were compared between and within groups. Free text responses were coded for themes and selection questions were analyzed using Fisher's exact tests. Our results demonstrate significant differences between the groups with participants in the pretest group more likely to choose "increased access to therapies" (p = 0.026) and "improved healthcare" (p < 0.000) as reasons to pursue testing. Benefits were also significantly different with "improved healthcare" (p = 0.009), "improved access to services" (p = 0.012), and "improved access to therapies" (p = 0.003) more frequently anticipated by the pretest group than reported by the posttest group. A relationship between GT and clinical management changes was reported by 34.4-50.0% of the posttest group. Among that group, genetic result type (positive, negative, or variant of uncertain significance) was associated with differing perceived benefits of testing. Thematic analysis revealed increased knowledge and coping as reported benefits in both groups. Our findings indicate a discrepancy between parental expectations and experiences of GT. Comprehensive pretest and posttest genetic counseling are necessary to improve information retention, address potential outcomes, and set expectations of GT for parents of children with ASD.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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