title: Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis.
abstract: Chromosomal microarray analysis (CMA) for unexplained anomalies and developmental delay has improved diagnosis rates, but results classified as variants of uncertain significance (VUS) may challenge both clinicians and families. We explored the impact of such results on families, including parental knowledge, understanding and interpretation. Semi-structured telephone interviews were conducted with parents (N = 14) who received genetic counseling for a VUS in their child. Transcripts were analyzed through an iterative coding process. Participants demonstrated a range of recall and personal interpretation regarding whether test results provided a causal explanation for their children's health issues. Participants maintained contradictory interpretations, describing results as answers while maintaining that little clarification of their child's condition had been provided. Reported benefits included obtaining medical services and personal validation. Parents described adaptation/coping processes similar to those occurring after positive test results. Recall of terminology, including "VUS" and precise CMA abnormalities, was poor. However, most demonstrated conceptual understanding of scientific uncertainty. All participants expressed intentions to return for recommended genetics follow-up but had misconceptions about how this would occur. These results provide insight into the patient-and-family experience when receiving uncertain genomic findings, emphasize the importance of exploring uncertainty during the communication process, and highlight areas for potential attention or improvement in the clinical encounter.
authors.affiliation: Department of Cancer Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-9323, USA. lesli.kiedrowski@utsouthwestern.edu.|Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. lesli.kiedrowski@utsouthwestern.edu.
authors.forename: Lesli A
authors.initials: LA
authors.lastname: Kiedrowski
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Kailey M
authors.initials: KM
authors.lastname: Owens
authors.affiliation: Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Beverly M
authors.initials: BM
authors.lastname: Yashar
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Jane L
authors.initials: JL
authors.lastname: Schuette
mesh_terms: D000223:Adaptation, Psychological; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D006801:Humans; D008297:Male; D046228:Microarray Analysis; D010290:Parents / Q000523:psychology*; D035501:Uncertainty
keywords: Chromosomal microarray; Genetic counseling; Genetic testing; Qualitative; Uncertainty