دورية أكاديمية
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study
| العنوان: | Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study |
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| المؤلفون: | 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 |
| المصدر: | urn:ISSN:1868-310X ; urn:ISSN:1868-6001 ; Journal of Community Genetics, 14, 3, 307-317 |
| بيانات النشر: | Springer Nature |
| سنة النشر: | 2023 |
| المجموعة: | UNSW Sydney (The University of New South Wales): UNSWorks |
| مصطلحات موضوعية: | Rare Diseases, Genetic Testing, Clinical Research, Cancer, Genetics, BRCA1, BRCA2, Hereditary cancer syndrome, Lynch syndrome, Psychosocial, Variant reclassification, anzsrc-for: 0604 Genetics |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| العلاقة: | http://hdl.handle.net/1959.4/unsworks_85210Test; https://unsworks.unsw.edu.au/bitstreams/40b9d95f-6c45-430c-976a-5a0ce130036f/downloadTest; https://doi.org/10.1007/s12687-023-00644-0Test |
| DOI: | 10.1007/s12687-023-00644-0 |
| الإتاحة: | https://doi.org/10.1007/s12687-023-00644-0Test http://hdl.handle.net/1959.4/unsworks_85210Test https://unsworks.unsw.edu.au/bitstreams/40b9d95f-6c45-430c-976a-5a0ce130036f/downloadTest |
| حقوق: | open access ; https://purl.org/coar/access_right/c_abf2Test ; CC BY ; https://creativecommons.org/licenses/by/4.0Test/ ; free_to_read ; Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0Test/. |
| رقم الانضمام: | edsbas.DBB931C0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/s12687-023-00644-0 |
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