title: Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling.
abstract: Advances in genome-based microarray and sequencing technologies hold tremendous promise for understanding, better-managing and/or preventing disease and disease-related risk. Chromosome microarray technology (array based comparative genomic hybridization [aCGH]) is widely utilized in pediatric care to inform diagnostic etiology and medical management. Less clear is how parents experience and perceive the value of this technology. This study explored parents' experiences with aCGH in the pediatric setting, focusing on how they make meaning of various types of test results. We conducted in-person or telephone-based semi-structured interviews with parents of 21 children who underwent aCGH testing in 2010. Transcripts were coded and analyzed thematically according to the principles of interpretive description. We learned that parents expect genomic tests to be of personal use; their experiences with aCGH results characterize this use as intrinsic in the test's ability to provide a much sought-after answer for their child's condition, and instrumental in its ability to guide care, access to services, and family planning. In addition, parents experience uncertainty regardless of whether aCGH results are of pathogenic, uncertain, or benign significance; this triggers frustration, fear, and hope. Findings reported herein better characterize the notion of personal utility and highlight the pervasive nature of uncertainty in the context of genomic testing. Empiric research that links pre-test counseling content and psychosocial outcomes is warranted to optimize patient care.
authors.affiliation: Program in Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada. robin.hayeems@sickkids.ca.|Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada. robin.hayeems@sickkids.ca.|Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada. robin.hayeems@sickkids.ca.
authors.forename: R Z
authors.initials: RZ
authors.lastname: Hayeems
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.|Program in Genetics and Genomic Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Babul-Hirji
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.|Program in Genetics and Genomic Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Hoang
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.|Program in Genetics and Genomic Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.|Department of Paediatrics, University of Toronto, Toronto, ON, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Weksberg
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.|Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.|Program in Genetics and Genomic Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.|Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Shuman
mesh_terms: D000293:Adolescent; D000328:Adult; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D003258:Consumer Behavior; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005817:Genetic Counseling / Q000379:methods* / Q000523:psychology*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D009864:Ontario; D010290:Parents / Q000193:education / Q000523:psychology*; D036301:Qualitative Research; D035501:Uncertainty; D055815:Young Adult
keywords: Microarray; Parental experience; Personal utility; Qualitative; Uncertainty