title: Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders.
abstract: Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test's perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1112, Philadelphia, PA, 19104, USA. marian.reiff@uphs.upenn.edu.
authors.forename: Marian
authors.identifier: http://orcid.org/0000-0003-1199-6598
authors.initials: M
authors.lastname: Reiff
authors.affiliation: College of Nursing and Health Professions, Drexel University, Philadelphia, PA, USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Giarelli
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1112, Philadelphia, PA, 19104, USA.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Bernhardt
authors.affiliation: Mixed Methods Research Lab, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Ebony
authors.initials: E
authors.lastname: Easley
authors.affiliation: Division of Genomic Diagnostics and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.|Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Nancy B
authors.initials: NB
authors.lastname: Spinner
authors.affiliation: Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Pamela L
authors.initials: PL
authors.lastname: Sankar
authors.affiliation: Division of Genomic Diagnostics and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Surabhi
authors.initials: S
authors.lastname: Mulchandani
mesh_terms: D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D046228:Microarray Analysis; D010290:Parents / Q000523:psychology*; D010342:Patient Acceptance of Health Care
keywords: Autism spectrum disorders; Chromosomal microarray analysis; Genomic testing; Parent perspectives; Perceived utility; Qualitative