从定性研究浮现的新主题:探究与遗传性癌症综合症基因变异重新分类的影响。
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.
发表日期:2023 Apr 03
作者:
Laura Wedd, Margaret Gleeson, Bettina Meiser, Rosie O'Shea, Kristine Barlow-Stewart, Amanda B Spurdle, Paul James, Jane Fleming, Cassandra Nichols, Rachel Austin, Elisa Cops, Melissa Monnik, Judy Do, Rajneesh Kaur
来源:
MOLECULAR & CELLULAR PROTEOMICS
摘要:
遗传变异解释的复杂性意味着接受遗传性癌症综合征基因检测的一部分个体在时间推移中会重新被分类。这种重新分类可能涉及病原性的明显升级或降级,这可能对医疗管理产生重大影响。迄今为止,很少有研究考察了遗传性癌症综合征环境下重新分类的心理社会影响。为了解决这个问题,我们对18个有BRCA1、BRCA2或Lynch综合征相关的(MLH1、MSH2、MSH6或PMS2)基因变异被重新分类的个体进行了半结构化电话访谈。通过归纳质性方法对访谈进行了分析,并通过主题分析识别出了涌现的主题。发现参与者的回忆水平不同。最初进行检测的常见动机包括具有显著的个人和/或家族癌症病史以及希望“找到答案”。没有一个将不确定结果升级的个体报告了负面的心理社会结果;大多数人报告已适应他们的重新分类结果,并积极评价他们的基因检测经验。然而,那些可能病原/病原性结果被降级的个体报告了重新分类后的愤怒、震惊和悲伤感,突显出可能需要为一些人提供额外的心理社会支持。还概述了基因咨询问题和临床实践的建议。©2023年,作者。
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.© 2023. The Author(s).