Powell Sarah, Artigas Marta, Borovova Irina, Gadiya Poorva, Hsu Alice, Kaur Ranjit, Kidd Lisa, Rosenfeld Denise, Saeed Mai Mohamed, Scarelli Evelin, Youssef Magdy Waheeb
Pink Hope, Narrabeen, NSW, Australia.
Independent Researcher, Buenos Aires, Argentina.
Front Oncol. 2024 May 14;14:1380349. doi: 10.3389/fonc.2024.1380349. eCollection 2024.
Genetic testing and counselling are critical in assessing breast cancer risk and tailoring treatment strategies. However, several barriers hinder patients from opting for genetic testing/counselling, leading to fewer than one-third of patients undergoing testing and even fewer being offered counselling. A granular understanding of these barriers is essential in overcoming them.
A multinational survey developed by patient authors was conducted in 9 countries, to identify the specific local/regional barriers. The survey question pathway was individualized, based on responses to prior questions. Percentage responses to a response option were calculated based on the total number of respondents to that question. Chi-square tests were used to assess the significance of the results, if applicable.
The final analysis set (FAS) included 1,176 respondents, with a subset of this responding to all questions. In the FAS, 63% of respondents had undergone testing. Among those who got tested, 70% were offered testing. Among untested respondents, only 40% were offered the test but eventually did not get tested. In the tested population, 44% received counselling, which was significantly higher than 7% (p<0.00001) in the untested group. Among those reporting on awareness, 71% reported awareness level between 'very low' and 'moderate' prior to cancer diagnosis. Most respondents (71%) agreed that all breast cancer patients should undergo testing before treatment initiation. However, Asian patients were less likely to endorse this view compared to respondents from other regions (25% vs ≥50%; p<0.00001). A higher proportion of tested respondents were 'very willing' to get their family members tested (44%) versus untested respondents (11%), with relatively higher willingness among Australian (77%) and Russian respondents (56%), the regional variation being statistically significant (p<0.00001).
Critical gaps remain in the access, awareness and perceived value of genetic testing and counselling, with regional variance or difference between the tested and untested groups. Most patients are not offered counselling, which may be associated with the low uptake of testing. Strategic action is needed to drive policy-shaping and improve access to testing and counselling, including raising patient awareness and improving patient experience for better treatment outcomes.
基因检测与咨询对于评估乳腺癌风险及制定个性化治疗策略至关重要。然而，诸多障碍阻碍患者选择基因检测/咨询，导致接受检测的患者不足三分之一，接受咨询的患者更是寥寥无几。深入了解这些障碍对于克服它们至关重要。
由患者作者发起的一项跨国调查在9个国家开展，以确定具体的当地/区域障碍。调查问题路径根据对先前问题的回答进行个性化设置。对某个回答选项的百分比回答是基于该问题的总回答人数计算得出的。如有适用，采用卡方检验评估结果的显著性。
最终分析集（FAS）包括1176名受访者，其中一部分回答了所有问题。在FAS中，63%的受访者接受了检测。在接受检测的人群中，70%的人是被提供了检测。在未接受检测的受访者中，只有40%的人被提供了检测但最终未进行检测。在接受检测的人群中，44%的人接受了咨询，这显著高于未接受检测组的7%（p<0.00001）。在报告有认知的人群中，71%的人报告在癌症诊断前认知水平在“非常低”到“中等”之间。大多数受访者（71%）同意所有乳腺癌患者在开始治疗前都应接受检测。然而，与其他地区的受访者相比，亚洲患者不太可能认同这一观点（25%对≥50%；p<0.00001）。接受检测的受访者中，有更高比例的人“非常愿意”让其家庭成员接受检测（44%），而未接受检测的受访者中这一比例为11%，澳大利亚（77%）和俄罗斯受访者（56%）的意愿相对较高，地区差异具有统计学意义（p<0.00001）。
基因检测与咨询在可及性、认知度和感知价值方面仍存在重大差距，在接受检测和未接受检测的群体之间存在地区差异。大多数患者未获得咨询，这可能与检测接受率低有关。需要采取战略行动来推动政策制定并改善检测与咨询的可及性，包括提高患者认知度和改善患者体验以实现更好的治疗效果。
