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.
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Acknowledgments
We thank the parents who participated in interviews as a part of this study. We also thank Alicia Giordimaina, Danielle Dubois, Bailey Hulswit, and Emily Wagoner for their assistance with this study. This work was supported by the National Society of Genetic Counselors Jane Engelberg Memorial Fellowship, the Michigan Association of Genetic Counselors, Inc., and the University of Michigan Rackham Graduate School. This study was completed in partial fulfillment of the requirements for Master of Science, University of Michigan Genetic Counseling Program, Ann Arbor, Michigan.
Conflict of Interest
Authors Lesli A. Kiedrowski, Kailey M. Owens, Beverly M. Yashar, and Jane L. Schuette declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
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Kiedrowski, L.A., Owens, K.M., Yashar, B.M. et al. Parents’ Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis. J Genet Counsel 25, 101–111 (2016). https://doi.org/10.1007/s10897-015-9847-3
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DOI: https://doi.org/10.1007/s10897-015-9847-3