Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States.
Bright Pink, Chicago, IL, United States.
J Med Internet Res. 2022 Feb 24;24(2):e29124. doi: 10.2196/29124.
The lifetime risk of breast and ovarian cancer is significantly higher among women with genetic susceptibility or a strong family history. However, current risk assessment tools and clinical practices may identify only 10% of asymptomatic carriers of susceptibility genes. Bright Pink developed the Assess Your Risk (AYR) tool to estimate breast and ovarian cancer risk through a user-friendly, informative web-based quiz for risk assessment at the population level.
This study aims to present the AYR tool, describe AYR users, and present evidence that AYR works as expected by comparing classification using the AYR tool with gold standard genetic testing guidelines.
The AYR is a recently developed population-level risk assessment tool that includes 26 questions based on the National Comprehensive Cancer Network (NCCN) guidelines and factors from other commonly used risk assessment tools. We included all women who completed the AYR between November 2018 and January 2019, with the exception of self-reported cancer or no knowledge of family history. We compared AYR classifications with those that were independently created using NCCN criteria using measures of validity and the McNemar test.
There were 143,657 AYR completions, and most participants were either at increased or average risk for breast cancer or ovarian cancer (137,315/143,657, 95.59%). Using our estimates of increased and average risk as the gold standard, based on the NCCN guidelines, we estimated the sensitivity and specificity for the AYR algorithm-generated risk categories as 100% and 89.9%, respectively (P<.001). The specificity improved when we considered the additional questions asked by the AYR to define increased risk, which were not examined by the NCCN criteria. By race, ethnicity, and age group; we found that the lowest observed specificity was for the Asian race (85.9%) and the 30 to 39 years age group (87.6%) for the AYR-generated categories compared with the NCCN criteria.
These results demonstrate that Bright Pink's AYR is an accurate tool for use by the general population to identify women at increased risk of breast and ovarian cancer. We plan to validate the tool longitudinally in future studies, including the impact of race, ethnicity, and age on breast and ovarian cancer risk assessment.
具有遗传易感性或强烈家族病史的女性，其患乳腺癌和卵巢癌的终身风险显著更高。然而，目前的风险评估工具和临床实践可能仅能识别出 10%的无症状易感基因携带者。Bright Pink 开发了 Assess Your Risk（AYR）工具，通过用户友好且信息丰富的基于网络的测验，在人群水平上进行风险评估，以估计乳腺癌和卵巢癌的风险。
本研究旨在介绍 AYR 工具，描述 AYR 用户，并通过比较 AYR 工具的分类与金标准遗传检测指南，提供 AYR 按预期发挥作用的证据。
AYR 是一种最近开发的人群水平风险评估工具，包含 26 个问题，基于美国国家综合癌症网络（NCCN）指南以及其他常用风险评估工具中的因素。我们纳入了所有于 2018 年 11 月至 2019 年 1 月期间完成 AYR 的女性，排除了自报癌症或不了解家族史的女性。我们使用 NCCN 标准比较了 AYR 分类与独立创建的分类，使用有效性衡量标准和 McNemar 检验。
共完成 143657 次 AYR 测试，大多数参与者被评估为乳腺癌或卵巢癌处于增加或平均风险（137315/143657，95.59%）。基于 NCCN 指南，我们使用增加和平均风险的估计值作为金标准，估计 AYR 算法生成的风险类别具有 100%的灵敏度和 89.9%的特异性（P<.001）。当我们考虑到 AYR 为定义增加风险而额外询问的问题时，特异性会提高，这些问题并未经过 NCCN 标准的检验。按种族、民族和年龄组划分，我们发现与 NCCN 标准相比，AYR 生成的类别中，亚洲种族（85.9%）和 30 至 39 岁年龄组（87.6%）的观察到的特异性最低。
这些结果表明，Bright Pink 的 AYR 是一般人群用于识别乳腺癌和卵巢癌高风险女性的准确工具。我们计划在未来的研究中对该工具进行纵向验证，包括种族、民族和年龄对乳腺癌和卵巢癌风险评估的影响。
