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. 2020 Jul;8(7):e1275.
doi: 10.1002/mgg3.1275. Epub 2020 Apr 24.

Patient perspectives on variant reclassification after cancer susceptibility testing

Affiliations

Patient perspectives on variant reclassification after cancer susceptibility testing

Colin M E Halverson et al. Mol Genet Genomic Med. 2020 Jul.

Abstract

Background: Little is known about the impact of reclassification on patients' perception of medical uncertainty or trust in genetics-based clinical care.

Methods: Semistructured telephone interviews were conducted with 20 patients who had received a reclassified genetic test result related to hereditary cancer. All participants had undergone genetic counseling and testing for cancer susceptibility at Vanderbilt-Ingram Cancer Center Hereditary Cancer Clinic within the last six years.

Results: Most of the participants did not express distress related to the variant reclassification and only a minority expressed a decrease in trust in medical genetics. However, recall of the new interpretation was limited, even though all participants were recontacted by letter, phone, or clinic visit.

Conclusion: Reclassification of genetic tests is an important issue in modern healthcare because changes in interpretation have the potential to alter previously recommended management. Participants in this study did not express strong feelings of mistrust or doubt about their genetic evaluation. However, there was a low level of comprehension and information retention related to the updated report. Future research can build on this study to improve communication with patients about their reclassified results.

Keywords: ethics; genetics; reclassification; recontact; uncertainty.

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References

    1. Balmaña, J. , Digiovanni, L. , Gaddam, P. , Walsh, M. F. , Joseph, V. , Stadler, Z. K. , … Domchek, S. M. (2016). Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing. Journal of Clinical Oncology, 34(34), 4071–4078. 10.1200/JCO.2016.68.4316 - DOI - PMC - PubMed
    1. Baudhuin, L. M. , Kluge, M. L. , Kotzer, K. E. , & Lagerstedt, S. A. (2019). Variability in gene‐based knowledge impacts variant classification: An analysis of FBN1 missense variants in ClinVar. European Journal of Human Genetics, 27(10), 1550–1560. 10.1038/s41431-019-0440-3 - DOI - PMC - PubMed
    1. Bombard, Y. , Brothers, K. B. , Fitzgerald‐Butt, S. , Garrison, N. A. , Jamal, L. , James, C. A. , … Levy, H. P. (2019). The Responsibility to recontact research participants after reinterpretation of genetic and genomic research results. The American Journal of Human Genetics, 104(4), 578–595. 10.1016/j.ajhg.2019.02.025 - DOI - PMC - PubMed
    1. Bredenoord, A. , Onland‐Moret, N. C. , & Van Delden, J. J. M. (2011). Feedback of individual genetic results to research participants: In favor of a qualified disclosure policy. Human Mutation, 32(8), 8 10.1002/humu.21518 - DOI - PubMed
    1. Carrieri, D. , Dheensa, S. , Doheny, S. , Clarke, A. J. , Turnpenny, P. D. , Lucassen, A. M. , & Kelly, S. E. (2017). Recontacting in clinical practice: An investigation of the views of healthcare professionals and clinical scientists in the United Kingdom. European Journal of Human Genetics, 25(3), 275–279. 10.1038/ejhg.2016.188 - DOI - PMC - PubMed

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