Feigelson Heather Spencer, Mittendorf Kathleen F, Okuyama Sonia, Porter Kathryn M, Bulkley Joanna, Shuster Elizabeth, Anderson Katherine P, Gilmore Marian J, Zepp Jamilyn M, Kauffman Tia L, Lindberg Nangel M, Muessig Kristin R, Bellcross Cecelia, Ukaegbu Chinedu, Syngal Sapna, Leo Michael C, Wilfond Benjamin S
Institute for Health Research, Kaiser Permanente, Denver, CO.
Bernard J Tyson Kaiser Permanente School of Medicine, Pasadena, CA.
Genet Med Open. 2024 Jun 25;2:101860. doi: 10.1016/j.gimo.2024.101860. eCollection 2024.
We developed an electronic patient-facing family history collection tool including B-RST 3.0, PREMM risk assessments and "limited family knowledge/structure" information designed for primary care settings. We evaluated the tool's performance compared with genetic-counselor-collected information for clinical risk stratification in a population with barriers to access.
English- or Spanish-speaking patients aged 18 to 49 were invited to participate. Individuals with limited family knowledge or at high or moderate risk based on their responses in the tool were offered genetic testing and counseling. We assessed overall agreement of family history collected in the tool compared with family history collected by the genetic counselors using Krippendorff's alpha (K-alpha). Multivariable logistic regression was used to assess characteristics associated with inaccuracy.
Most people (94%, = 1711) who interacted with the tool completed it. Those included in the agreement analysis ( = 604) had a median age of 36.3 years, 81.6% were female, and 44.4% were Non-Hispanic White. Both the B-RST 3.0 and PREMM had moderate agreement: 69.9% (K-alpha = .40, 95% CI [0.32, 0.47]) and 83.9% (K-alpha = .52, 95% CI [0.43, 0.60]), respectively. Agreement was high (96%) for people with clinically significant risk for one of the hereditary cancer syndromes. For B-RST 3.0, the factors significantly associated with inaccuracy were study site, sex, and race/ethnicity. For PREMM, age, sex, and education were associated with inaccuracy. Barriers to access were not associated with inaccuracy.
Implementation of this tool could increase identification of individuals at risk for hereditary cancer syndromes, including those with barriers to health care access.
我们开发了一种面向患者的电子家族病史收集工具，其中包括B-RST 3.0、PREMM风险评估以及为初级保健机构设计的“有限家族知识/结构”信息。我们评估了该工具与遗传咨询师收集的信息相比，在临床风险分层方面的性能，该人群存在获取医疗服务的障碍。
邀请年龄在18至49岁、说英语或西班牙语的患者参与。根据工具中的回答，家族知识有限或处于高风险或中度风险的个体被提供基因检测和咨询。我们使用克里彭多夫阿尔法系数（K-alpha）评估工具收集的家族病史与遗传咨询师收集的家族病史的总体一致性。多变量逻辑回归用于评估与不准确相关的特征。
大多数与该工具互动的人（94%，n = 1711）完成了该工具。纳入一致性分析的人（n = 604）中位年龄为36.3岁，81.6%为女性，44.4%为非西班牙裔白人。B-RST 3.0和PREMM的一致性均为中等：分别为69.9%（K-alpha = 0.40，95%可信区间[0.32, 0.47]）和83.9%（K-alpha = 0.52，95%可信区间[0.43, 0.60]）。对于一种遗传性癌症综合征具有临床显著风险的人，一致性较高（96%）。对于B-RST 3.0，与不准确显著相关的因素是研究地点、性别和种族/民族。对于PREMM，年龄、性别和教育程度与不准确相关。获取医疗服务的障碍与不准确无关。
实施该工具可以增加对遗传性癌症综合征高危个体的识别，包括那些有医疗服务获取障碍的人。
