Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics View Full Text


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Article Info

DATE

2021-09-24

AUTHORS

Amy Margolin, Benjamin M. Helm, Kayla Treat, Sandra K. Prucka, Colin M. E. Halverson

ABSTRACT

Improvements in technology used for genetic testing have yielded an increased numbers of variants that are identified, each with a potential to return uninformative results. While some genetics providers may expect patients to be responsible for staying abreast of updates to their genetic testing results, it is unknown whether patients are even aware of the possibility of variant reclassification. Little research has assessed the comprehension and attitudes of parents of pediatric patients regarding reclassification of variants of uncertain significance (VUS). Semi-structured telephone interviews were conducted with parents (n = 15) whose children received a VUS from genetic testing in either the pediatric neurogenetics or developmental pediatrics clinics at Riley Hospital for Children in Indianapolis, Indiana. Most participants expressed understanding of the uncertainty surrounding their child’s VUS test result. However, nearly half of participants shared that they had no prior knowledge of its potential reclassification. When asked whose responsibility it is to keep informed about changes to their child’s VUS status, some participants stated that it belonged solely to healthcare providers — a distinctive finding of our study — whereas others felt that it was a joint responsibility between providers and the parents. We additionally found that some patients desire a support group for individuals with VUS. These results provide insight into the importance of pretest genetic counseling and the need for increased social and informational support for parents of children who receive inconclusive genetic testing results. We conclude that relying solely on the patient or guardian to manage uncertain results may be insufficient. More... »

PAGES

663-670

References to SciGraph publications

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  • 2015-02-10. Variants of unknown significance on chromosomal microarray analysis: parental perspectives in JOURNAL OF COMMUNITY GENETICS
  • 2009-10. Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data in PEDIATRIC RESEARCH
  • 2014-05-22. Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations in GENETICS IN MEDICINE
  • 2017-12-14. Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines in GENETICS IN MEDICINE
  • 2020-09-14. Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis in GENETICS IN MEDICINE
  • 2016-02-12. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders in JOURNAL OF GENETIC COUNSELING
  • 2017-01-26. Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance in JOURNAL OF GENETIC COUNSELING
  • 2018-11-14. Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors’ and counselees’ views in JOURNAL OF COMMUNITY GENETICS
  • 2012-01-05. “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing in GENETICS IN MEDICINE
  • 2018-01-04. Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2013-04-01. “Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease in JOURNAL OF GENETIC COUNSELING
  • 2018-12-22. Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) in GENETICS IN MEDICINE
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    URI

    http://scigraph.springernature.com/pub.10.1007/s12687-021-00552-1

    DOI

    http://dx.doi.org/10.1007/s12687-021-00552-1

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1141362700

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34558037


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