Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study
- Author(s)
- Wedd, L; Gleeson, M; Meiser, B; O'Shea, R; Barlow-Stewart, K; Spurdle, AB; James, P; Fleming, J; Nichols, C; Austin, R; Cops, E; Monnik, M; Do, J; Kaur, R;
- Details
- Publication Year 2023-06,Volume 14,Issue #3,Page 307-317
- Journal Title
- Journal of Community Genetics
- Publication Type
- Research article
- Abstract
- The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a reclassification may involve a clinically significant upgrade or downgrade in pathogenicity, which may have significant implications for medical management. To date, few studies have examined the psychosocial impact of a reclassification in a hereditary cancer syndrome context. To address this gap, semi-structured telephone interviews were performed with eighteen individuals who had a BRCA1, BRCA2 or Lynch syndrome-related (MLH1, MSH2, MSH6 or PMS2) gene variant reclassified. The interviews were analysed utilising an inductive, qualitative approach and emergent themes were identified by thematic analysis. Variable levels of recall amongst participants were found. Common motivations for initial testing included a significant personal and/or family history of cancer and a desire to "find an answer". No individual whose uncertain result was upgraded reported negative psychosocial outcomes; most reported adapting to their reclassified result and appraised their genetic testing experience positively. However, individuals whose likely pathogenic/pathogenic results were downgraded reported feelings of anger, shock and sadness post reclassification, highlighting that additional psychosocial support may be required for some. Genetic counselling issues and recommendations for clinical practice are outlined.
- Publisher
- Springer Nature
- Keywords
- Brca1; Brca2; Hereditary cancer syndrome; Lynch syndrome; Psychosocial; Variant reclassification
- Department(s)
- Familial Cancer Centre
- PubMed ID
- 37012465
- Publisher's Version
- https://doi.org/10.1007/s12687-023-00644-0
- Open Access at Publisher's Site
https://doi.org/10.1007/s12687-023-00644-0- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2023-09-12 01:58:48
Last Modified: 2023-09-12 01:59:21