Physician knowledge, use, and perceptions of genetic biomarker testing for the management of patients with newly diagnosed advanced ovarian cancer: an international physician survey

To explore physician-reported knowledge, use, and perceptions of genetic testing for advanced ovarian cancer management. Gynecology/oncology specialists (n = 390) in the US, Europe, Canada, Japan, and Australia completed an online survey spanning March 2021 to April 2022. Physician-reported breast cancer gene mutation (BRCAm) testing rates increased over the 2 years before the survey; most patients underwent testing in the preceding 6 months. Homologous recombination deficiency (HRD) genomic instability testing rates and physicians’ confidence interpreting results remained relatively low. Genetic testing was driven by the associated treatment implications of the findings. Poor performance status, inadequate tissue, and patients’ willingness to undergo testing were reported barriers to testing. Findings indicate that there is a need to improve both access to and information about HRD testing. Why did we perform this research? Testing for breast cancer gene mutations (BRCAm) is strongly recommended to guide treatment decisions for patients with ovarian cancer (OC), with screening for homologous recombination deficiency (HRD) genomic instability (when cells cannot accurately repair breaks in DNA strands) also recommended. However, not all eligible women are tested, indicating that a greater understanding of physicians’ testing practices is needed. What did we do? Physicians (n = 390) in the US, Europe, Canada, Japan, and Australia completed an online survey that evaluated their knowledge, use, and perceptions of genetic testing for advanced OC management. What were the results? Across all countries, physicians reported increasing BRCAm testing rates over the 2 years before the survey, with most patients with advanced OC now receiving these tests. HRD testing rates were relatively low, and few physicians reported complete confidence in interpreting these test results. Physicians most commonly reported that genetic testing was conducted because the results could guide treatment decisions. The main reasons for not conducting tests were patients being too unwell, tissue samples being inadequate, or patients being unwilling to undergo testing. Across countries, most physicians agreed genetic counseling should be offered to patients with OC; however, in some countries, there was insufficient access to these services. What are the implications? Our findings indicate that physicians’ understanding of the wider implications of genetic testing, including HRD testing, and patients’ access to genetic counseling may require improvement to ensure patients with advanced OC receive optimal care.

本研究旨在探究医师报告的、用于晚期卵巢癌管理的基因检测相关知识、使用情况及认知态度。来自美国、欧洲、加拿大、日本及澳大利亚的妇科肿瘤专科医师（n=390）于2021年3月至2022年4月期间完成了一项在线问卷调查。
医师报告的乳腺癌易感基因突变（breast cancer gene mutation, BRCAm）检测率在调研前两年呈上升趋势；多数晚期卵巢癌患者在调研前6个月内完成了该项检测。同源重组缺陷（homologous recombination deficiency, HRD）基因组不稳定性检测率以及医师对检测结果的解读信心均处于相对较低水平。基因检测的开展主要受检测结果对应的治疗指导意义所驱动。体能状态不佳、组织样本不合格以及患者不愿接受检测是报告中提及的检测开展障碍。研究结果显示，当前亟需提升HRD检测的可及性与相关认知普及度。
为何开展本研究？指南强烈推荐通过乳腺癌易感基因突变（BRCAm）检测指导卵巢癌（ovarian cancer, OC）患者的治疗决策，同时推荐对同源重组缺陷（HRD）基因组不稳定性（即细胞无法精准修复DNA链断裂的状态）进行筛查。但并非所有符合条件的女性都能接受检测，这表明我们需要进一步了解医师的检测实践情况。
本研究开展了哪些工作？来自美国、欧洲、加拿大、日本及澳大利亚的390名专科医师完成了一项在线问卷调查，以评估其对晚期卵巢癌管理相关基因检测的知识储备、使用情况及认知态度。
本研究取得了哪些结果？在所有参与调研的国家中，医师报告称调研前两年的BRCAm检测率持续上升，目前多数晚期卵巢癌患者均可接受该项检测。HRD检测率仍处于相对较低水平，且仅有少数医师表示能够完全自信地解读此类检测结果。医师最常提及开展基因检测的原因为检测结果可指导治疗决策。未开展检测的主要原因为患者体能状况过差、组织样本不合格或患者不愿接受检测。各国多数医师均认同应为卵巢癌患者提供遗传咨询（genetic counseling）服务，但部分国家存在此类服务可及性不足的问题。
本研究有何启示？研究结果表明，我们需要提升医师对包括HRD检测在内的基因检测的全面认知，同时改善患者获取遗传咨询服务的可及性，以确保晚期卵巢癌患者能够获得最优诊疗服务。