Journal of Community Genetics

, Volume 6, Issue 4, pp 343–349 | Cite as

Variants of unknown significance on chromosomal microarray analysis: parental perspectives

  • Stephanie Jez
  • Megan Martin
  • Sarah South
  • Rena Vanzo
  • Erin Rothwell
Original Article


Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay (DD), intellectual disability (ID), and/or autism spectrum disorder (ASD). Microarray may discover variants of unknown clinical significance (VUS) and been suggested to cause parental stress and anxiety. A retrospective, mixed methods study investigated parental perceptions of chromosomal microarray results that contain VUS. Surveys were sent to parents of children with DD/ID/ASD following a VUS result to seek information regarding parental understanding of the result, perceived value, and perceptions of child vulnerability and parental stress. Parents reported that chromosomal microarray was important for understanding their child’s diagnosis and they were satisfied with the information. A majority of parents reported high confidence in their ability to explain a VUS result to others. Of the parents who reported they received support, many reported that the support was from a genetic counselor. Based on these results, VUS results are important to parents of children with DD/ID/ASD and genetic counseling regarding VUS results contributes positively to both parental understanding and support.


Chromosomal microarray analysis Variant of unknown significance Autism spectrum disorder Developmental delay Intellectual disability 



The authors would like to thank the University of Utah Graduate Program in Genetic Counseling for supporting this study. Also, we extend thanks to Andrew Wilson, MSTAT, for his valuable contributions to data analyses and interpretation. The authors greatly appreciate the team at Lineagen, Inc. for the assistance in recruitment.

Compliance with ethics guidelines

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Declaration of Helsinki 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Conflict of interest

The authors have no conflict of interest to disclose.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Stephanie Jez
    • 1
  • Megan Martin
    • 2
  • Sarah South
    • 1
    • 3
  • Rena Vanzo
    • 2
  • Erin Rothwell
    • 4
  1. 1.Department of Medical Genetics, Department of PediatricsUniversity of UtahSalt Lake CityUSA
  2. 2.Lineagen, Inc.Salt Lake CityUSA
  3. 3.ARUP LaboratoriesUniversity of UtahSalt Lake CityUSA
  4. 4.College of Nursing, Division of Medical Ethics and HumanitiesUniversity of UtahSalt Lake CityUSA

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