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Clinical Trial
. 2019 Jul;27(7):1134-1142.
doi: 10.1038/s41431-019-0377-6. Epub 2019 Mar 21.

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

Eugene K Wong  1 , Kirsten Bartels  2 , Julie Hathaway  2 , Charlotte Burns  3   4   5 , Laura Yeates  3   4   5 , Christopher Semsarian  3   4   5 , Andrew D Krahn  2 , Alice Virani  1 , Jodie Ingles  6   7   8
Affiliations
Clinical Trial

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

Eugene K Wong et al. Eur J Hum Genet. 2019 Jul.

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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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
A summary of emerging themes when cardiac patients experience and receive a reclassified genetic variant
Fig. 2
Fig. 2
Recommendations for incorporating the variant reclassification discussion throughout the different stages of genetic counseling
See this image and copyright information in PMC

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