Department of Medicine, School of Medicine, Stanford University, Stanford, California.
Department of Epidemiology and Population Health, School of Medicine, Stanford University, Stanford, California.
JAMA. 2023 Jul 3;330(1):43-51. doi: 10.1001/jama.2023.9526.
Germline genetic testing is recommended by practice guidelines for patients diagnosed with cancer to enable genetically targeted treatment and identify relatives who may benefit from personalized cancer screening and prevention.
To describe the prevalence of germline genetic testing among patients diagnosed with cancer in California and Georgia between 2013 and 2019.
DESIGN, SETTING, AND PARTICIPANTS: Observational study including patients aged 20 years or older who had been diagnosed with any type of cancer between January 1, 2013, and March 31, 2019, that was reported to statewide Surveillance, Epidemiology, and End Results registries in California and Georgia. These patients were linked to genetic testing results from 4 laboratories that performed most germline testing for California and Georgia.
The primary outcome was germline genetic testing within 2 years of a cancer diagnosis. Testing trends were analyzed with logistic regression modeling. The results of sequencing each gene, including variants associated with increased cancer risk (pathogenic results) and variants whose cancer risk association was unknown (uncertain results), were evaluated. The genes were categorized according to their primary cancer association, including breast or ovarian, gastrointestinal, and other, and whether practice guidelines recommended germline testing.
Among 1 369 602 patients diagnosed with cancer between 2013 and 2019 in California and Georgia, 93 052 (6.8%) underwent germline testing through March 31, 2021. The proportion of patients tested varied by cancer type: male breast (50%), ovarian (38.6%), female breast (26%), multiple (7.5%), endometrial (6.4%), pancreatic (5.6%), colorectal (5.6%), prostate (1.1%), and lung (0.3%). In a logistic regression model, compared with the 31% (95% CI, 30%-31%) of non-Hispanic White patients with male breast cancer, female breast cancer, or ovarian cancer who underwent testing, patients of other races and ethnicities underwent testing less often: 22% (95% CI, 21%-22%) of Asian patients, 25% (95% CI, 24%-25%) of Black patients, and 23% (95% CI, 23%-23%) of Hispanic patients (P < .001 using the χ2 test). Of all pathogenic results, 67.5% to 94.9% of variants were identified in genes for which practice guidelines recommend testing and 68.3% to 83.8% of variants were identified in genes associated with the diagnosed cancer type.
Among patients diagnosed with cancer in California and Georgia between 2013 and 2019, only 6.8% underwent germline genetic testing. Compared with non-Hispanic White patients, rates of testing were lower among Asian, Black, and Hispanic patients.
临床实践指南建议对诊断出癌症的患者进行种系基因检测，以实现基因靶向治疗，并识别可能受益于个性化癌症筛查和预防的亲属。
描述 2013 年至 2019 年间加利福尼亚州和佐治亚州诊断出癌症的患者进行种系基因检测的比例。
设计、设置和参与者：这是一项观察性研究，纳入了 2013 年 1 月 1 日至 2019 年 3 月 31 日期间被诊断患有任何类型癌症的年龄在 20 岁或以上的患者，这些患者的信息报告给了加利福尼亚州和佐治亚州的全州监测、流行病学和最终结果登记处。这些患者与加利福尼亚州和佐治亚州进行的大多数种系检测的 4 家实验室的基因检测结果相关联。
主要结果是在癌症诊断后 2 年内进行种系基因检测。通过逻辑回归模型分析检测趋势。评估了对每个基因进行测序的结果，包括与癌症风险增加相关的变异（致病性结果）和癌症风险关联未知的变异（不确定结果）。根据其主要癌症关联对基因进行分类，包括乳腺或卵巢、胃肠道和其他，以及是否推荐进行种系检测的临床实践指南。
在 2013 年至 2019 年间被诊断患有癌症的 1369602 名加利福尼亚州和佐治亚州患者中，有 93052 名（6.8%）在 2021 年 3 月 31 日前接受了种系检测。接受检测的患者比例因癌症类型而异：男性乳腺癌（50%）、卵巢癌（38.6%）、女性乳腺癌（26%）、多发性癌症（7.5%）、子宫内膜癌（6.4%）、胰腺癌（5.6%）、结直肠癌（5.6%）、前列腺癌（1.1%）和肺癌（0.3%）。在逻辑回归模型中，与 31%（95%CI，30%-31%）的非西班牙裔白种人男性乳腺癌、卵巢癌或乳腺癌患者相比，其他种族和族裔的患者接受检测的比例较低：亚洲患者为 22%（95%CI，21%-22%），黑人患者为 25%（95%CI，24%-25%），西班牙裔患者为 23%（95%CI，23%-23%）（P < .001，使用 χ2检验）。在所有致病性结果中，67.5%至 94.9%的变异是在推荐进行检测的基因中发现的，68.3%至 83.8%的变异是在与诊断出的癌症类型相关的基因中发现的。
在 2013 年至 2019 年间被诊断患有癌症的加利福尼亚州和佐治亚州患者中，只有 6.8%接受了种系基因检测。与非西班牙裔白种人患者相比，亚洲、黑人和西班牙裔患者的检测率较低。
