title: "Set in Stone" or "Ray of Hope": Parents' Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD.
abstract: Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result. However, parents' expectations for the future tended to differ depending on results; those who received genetic confirmation for their children's ASD expressed a sense of concreteness, acceptance and permanence of the condition. Some parents expressed hope for future biomedical treatments as a result of genetic research.
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3624 Market Street, Philadelphia, PA, 19104, USA. mreiff@upenn.edu.|Counseling and Psychological Services, University of Pennsylvania, Philadelphia, PA, USA. mreiff@upenn.edu.
authors.forename: Marian
authors.identifier: 0000-0003-1199-6598
authors.initials: M
authors.lastname: Reiff
authors.affiliation: Mixed Methods Research Lab, University of Pennsylvania, Philadelphia, PA, USA.|Department of Population, Family, and Reproductive Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, USA.
authors.forename: Eva
authors.initials: E
authors.lastname: Bugos
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, Philadelphia, PA, USA.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Bernhardt
authors.affiliation: Division of Genomic Diagnostics and the Division of Human Genetics, Children's Hospital of Philadelphia, 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 the Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Surabhi
authors.initials: S
authors.lastname: Mulchandani
mesh_terms: D001294:Attitude to Health; D000067877:Autism Spectrum Disorder / Q000235:genetics / Q000523:psychology*; D002648:Child; D003469:Culture; D005260:Female; D023281:Genomics; D006801:Humans; D008297:Male; D046228:Microarray Analysis; D010290:Parents / Q000523:psychology*; D011379:Prognosis; D036301:Qualitative Research; D011795:Surveys and Questionnaires
keywords: Autism spectrum disorders; Causation beliefs; Chromosomal microarray analysis; Genetic determinism; Genomic testing; Parental expectations