Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences
Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences
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DOI：
10.1186/s13053-019-0132-6
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发表时间：
2019-12-16
影响因子：
1.7
通讯作者：
Hines, Stephanie L.
中科院分区：
文献类型：
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作者：
Clift, Kristin E.;Macklin, Sarah K.;Hines, Stephanie L.
遗传性癌症综合征的基因检测已经被下一代测序技术彻底改变，该技术允许同时审查许多基因。多基因面板定期提供给病人，因为他们的范围和降低成本和周转时间。然而，在较大的面板中包含的许多基因没有像BRCA 1和BRCA 2（BRCA 1/2）那样广泛地研究，并且它们的临床效果通常没有得到很好的确定。方法我们确定了2012年1月至2018年5月期间接受乳腺癌基因致病性变异阳性检测结果的患者。我们邮寄了一份调查并进行了定性访谈，以探索患有BRCA 1/2致病性变体的患者和患有“其他”（即非BRCA 1/2或PALB 2; PTEN; ATM; TP 53; NBM，RAD 51 C; MSH 6）变体的患者的个人和医疗保健经历。我们比较了这些患者的经历。结果128人中有59人（46%）回答了调查。32例患者有BRCA 1/2变异，27例有其他变异。(49女性和10名男性;中位[范围]年龄，63 [34-87]岁）。我们采访了21名患者（17名女性和4名男性;中位[范围]年龄为59.6 [34-82]岁）。在访谈参与者中，10名患者有BRCA 1/2变异，11名患者有非BRCA 1/2变异。患者报告说，他们的基因检测结果信息不佳，他们经常教育他们的医生关于他们的结果。一些患者认为他们被医疗保健专业人员忽视或“刷掉”，因为非BRCA 1/2基因在遗传学研究界之外了解较少。BRCA 1/2变异患者与医疗保健提供者有类似的问题，尽管人们对BRCA 1/2的认识有所提高，并制定了相关指南。结论需要研究以了解新特征的遗传性癌症基因引起的疾病的临床意义和适当的管理。对患者和提供者教育的额外评估应该是改善患者护理的最重要的努力。
Background Genetic testing for hereditary cancer syndromes has been revolutionized by next-generation sequencing, which allows for simultaneous review of numerous genes. Multigene panels are regularly offered to patients because of their scope and decreased cost and turnaround time. However, many genes included on larger panels have not been studied as extensively as BRCA1 and BRCA2 (BRCA1/2), and their clinical effects are often not as well established. Methods We identified patients who received positive test results for pathogenic variants of breast cancer genes from January 2012 through May 2018. We mailed a survey and conducted qualitative interviews to explore the personal and health care experiences of patients with pathogenic variants of BRCA1/2 and patients with "other" (ie, non-BRCA1/2 or PALB2; PTEN; ATM; TP53; NBM, RAD51C; MSH6) variants. We compared the experiences of these patients. Results Fifty-nine out of 128 individuals responded to the survey (46%). Thirty-two patients had BRCA1/2 variants, and 27 had other variants. (49 women and 10 men; median [range] age, 63 [34-87] years). We interviewed 21 patients (17 women and 4 men; median [range] age, 59.6 [34-82] years). Of the interview participants, ten patients had BRCA1/2 variants, and 11 had non-BRCA1/2 variants. Patients reported receiving poor information about their genetic test results, and they often educated their physicians about their results. Some patients believed that they had been ignored or "brushed off" by health care professionals because non-BRCA1/2 genes are less understood outside the genetics research community. Patients with BRCA1/2 variants had similar problems with health care providers, despite increased awareness and established guidelines about BRCA1/2. Conclusions Research is required to understand the clinical significance and proper management of diseases attributable to newly characterized hereditary cancer genes. Additional evaluation of patient and provider education should be at the forefront of efforts to improve patient care.