The presence of hereditary cancer syndromes in cancer patients can have an impact on current clinical care and post-treatment prevention and surveillance measures. Several barriers inhibit identification of hereditary cancer syndromes in routine practice. This paper describes the impact of using a patient-facing family health history risk assessment platform on the identification and referral of breast cancer patients to genetic counselling services. This was a hybrid implementation-effectiveness study completed in breast cancer clinics. English-literate patients not previously referred for genetic counselling and/or gone through genetic testing were offered enrollment. Consented participants were provided educational materials on family health history collection, entered their family health history into the platform and completed a satisfaction survey. Upon completion, participants and their clinicians were given personalized risk reports. Chart abstraction was done to identify actions taken by patients, providers and genetic counsellors. Of 195 patients approached, 102 consented and completed the study (mean age 55.7, 100 % women). Sixty-six (65 %) met guideline criteria for genetic counseling of which 24 (36 %) were referred for genetic counseling. Of those referred, 13 (54 %) participants attended and eight (33 %) completed genetic testing. On multivariate logistic regression, referral was not associated with age, cancer stage, or race but was associated with clinical provider (p = 0.041). Most providers (71 %) had higher referral rates during the study compared to prior. The majority of participants found the experience useful (84 %), were more aware of their health risks (83 %), and were likely to recommend using a patient-facing platform to others (69 %). 65 % of patients attending breast cancer clinics in this study are at-risk for hereditary conditions based on current guidelines. Using a patient-facing risk assessment platform enhances the ability to identify these patients systematically and with widespread acceptability and recognized value by patients. As only a third of at-risk participants received referrals for genetic counseling, further understanding barriers to referral is needed to optimize hereditary risk assessment in oncology practices. NIH Clinical Trials registry, NCT04639934 . Registered Nov 23, 2020 -- Retrospectively registered.

中文翻译：

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肿瘤学特定家族健康史风险评估工具的临床实施

癌症患者存在遗传性癌症综合征可能会对当前的临床护理以及治疗后预防和监测措施产生影响。在常规实践中，存在一些障碍阻碍遗传性癌症综合征的识别。本文描述了使用面向患者的家族健康史风险评估平台对乳腺癌患者的识别和转诊至遗传咨询服务的影响。这是一项在乳腺癌诊所完成的混合实施效果研究。以前未转诊进行遗传咨询和/或进行基因检测的具有英语能力的患者被纳入登记。同意的参与者获得了有关家庭健康史收集的教育材料，将其家庭健康史输入平台并完成满意度调查。完成后，参与者及其临床医生都会收到个性化的风险报告。进行图表抽象是为了识别患者、提供者和遗传咨询师采取的行动。在 195 名患者中，102 名同意并完成了研究（平均年龄 55.7 岁，100% 为女性）。66 人 (65%) 符合遗传咨询的指导标准，其中 24 人 (36%) 被转介接受遗传咨询。在转介的人中，13 名 (54%) 参与者参加了，8 名 (33%) 完成了基因检测。在多变量逻辑回归中，转诊与年龄、癌症分期或种族无关，但与临床提供者相关（p = 0.041）。与之前相比，大多数提供者 (71%) 在研究期间的转介率更高。大多数参与者认为这种体验很有用（84%），更加意识到自己的健康风险（83%），并且可能会向其他人推荐使用面向患者的平台（69%）。根据现行指南，本研究中 65% 到乳腺癌诊所就诊的患者面临遗传性疾病的风险。使用面向患者的风险评估平台可以增强系统地识别这些患者的能力，并获得患者的广泛接受和认可的价值。由于只有三分之一的高危参与者接受了遗传咨询转诊，因此需要进一步了解转诊障碍，以优化肿瘤学实践中的遗传风险评估。NIH 临床试验登记处，NCT04639934。2020年11月23日注册——追溯注册。