Abstract
Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of patients with an inherited cardiac disease and a clinically significant variant reclassification was explored through semi-structured phone interviews. Participants were recruited from two specialized multidisciplinary centers in Canada and Australia. Qualitative analysis was performed through a thematic analysis approach. Fifteen participants were interviewed, including 9 (60%) with an inherited cardiomyopathy and 6 (40%) with an inherited arrhythmia syndrome. Six (40%) patients had a classification upgrade, while 9 (60%) had a downgrade. Four major themes emerged: (1) reactions towards the reclassified variant; (2) impact on decision-making; (3) perception of the reclassification process; and (4) improvement of the reclassification process. Many patients adjusted to the reclassification, however some misunderstood the implications, impacting their responses and decision-making. In conclusion, careful discussion with patients about uncertainty and the potential for reclassification are crucial to ensure a deeper understanding of the outcome of genetic testing and impact on families.
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Acknowledgements
CB is the recipient of an Australia Postgraduate Award (APA). CS is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (#1059156). ADK receives support from the Heart and Stroke Foundation of Canada (Ottawa, ON), the Sauder Family and Heart and Stroke Foundation Chair in Cardiology (Vancouver, BC), the Paul Brunes Chair in Heart Rhythm Disorders (Vancouver, BC), and the Paul Albrechtson Foundation (Winnipeg, MB). JI is a recipient of a Heart Foundation of Australia Future Leader Fellowship (#100833).
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Wong, E.K., Bartels, K., Hathaway, J. et al. Perceptions of genetic variant reclassification in patients with inherited cardiac disease. Eur J Hum Genet 27, 1134–1142 (2019). https://doi.org/10.1038/s41431-019-0377-6
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DOI: https://doi.org/10.1038/s41431-019-0377-6
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