Department of Biomedical Informatics, University of Utah, Salt Lake City, UT.
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
JCO Clin Cancer Inform. 2024 Nov;8:e2400142. doi: 10.1200/CCI-24-00142. Epub 2024 Nov 21.
The GARDE platform uses family history reported in the electronic health record (EHR) to systematically identify eligible patients for genetic testing for hereditary cancer syndromes. The goal of this study was to evaluate the change in effectiveness of GARDE to identify eligible individuals when more comprehensive family history data are provided, thus quantifying the impact of underdocumentation.
A cohort of 133,764 patients at the University of Utah Health was analyzed with GARDE comparing identification rates using EHR data versus EHR plus data from a statewide population database, the Utah Population Database (UPDB).
Compared with EHR alone, EHR + UPDB increased the rate of individuals eligible for genetic testing from 4.1% to 9.2%. In the 44,692 individuals with the most comprehensive family history, eligibility more than quadrupled from 4.6% (EHR alone) to 19.3% (EHR + UPDB). The increase was significant across all demographics, but disparities still remained for historically marginalized minorities (9.2%-13.9% in non-White races compared with 19.7% in White races).
Augmenting EHR data with family history data from the UPDB substantially improved the detection of individuals eligible for genetic testing of hereditary cancer syndromes in all subgroups. This underscores the importance of improving methods for acquiring family history, in person or in silico. However, these increases did not ameliorate disparities. Continuous disparities are unlikely to be explained by incomplete family history alone and may also be because susceptibility genes, risk variants, and screening guidelines were discovered and developed largely in White races. Addressing disparities will require intentional data collection of family history in historically marginalized minorities and the promotion of genetic and risk assessment studies in more diverse populations to ensure equity and health care.
GARDE 平台利用电子健康记录（EHR）中报告的家族史，系统地识别有资格接受遗传性癌症综合征基因检测的患者。本研究的目的是评估当提供更全面的家族史数据时，GARDE 识别合格个体的有效性的变化，从而量化记录不完整的影响。
分析了犹他大学健康中心的 133764 名患者的队列，使用 GARDE 比较了仅使用 EHR 数据和使用 EHR 加全州人口数据库（犹他州人口数据库，UPDB）数据进行识别的个体的鉴定率。
与仅使用 EHR 相比，EHR + UPDB 将有资格进行基因检测的个体比例从 4.1%提高到 9.2%。在具有最全面家族史的 44692 名个体中，资格从仅使用 EHR 的 4.6%（4.6%）增加到 19.3%（EHR + UPDB），增加了四倍以上。这种增加在所有人群中都是显著的，但历史上处于边缘地位的少数民族仍然存在差异（非白种人群中的 9.2%-13.9%，而白种人群中的 19.7%）。
用 UPDB 的家族史数据扩充 EHR 数据，大大提高了所有亚组中遗传性癌症综合征基因检测合格个体的检出率。这突出了改进获取家族史的方法的重要性，无论是面对面还是在计算机上。然而，这些增加并没有改善差异。持续的差异不太可能仅仅由不完整的家族史来解释，也可能是因为易感性基因、风险变体和筛选指南主要是在白种人群中发现和开发的。要解决差异，需要在历史上处于边缘地位的少数民族中有意收集家族史，并在更多样化的人群中推广遗传和风险评估研究，以确保公平和医疗保健。
