Abstract：
The incidence of early-onset colorectal cancer (EOCRC) is rapidly increasing. Pathogenic germline variants (PGVs) are detected in 16% to 20% of patients who have EOCRC, highlighting a need for genetic counseling (GC) and multigene panel testing in these patients. We aimed to determine the rate of referral to GC and uptake and outcomes of germline testing in patients with EOCRC.
We conducted a retrospective cohort study of patients aged <50 years diagnosed with colorectal cancer (CRC) from 2010 to 2019 at Cleveland Clinic. Demographic data were extracted, including age, sex, self-reported race, and family history of CRC. The proportions of patients with GC referral and completion of GC and genetic testing were investigated, and genetic testing results were analyzed. Multivariable logistic regression analysis was conducted to identify factors independently associated with GC referral and uptake.
A total of 791 patients with EOCRC (57% male and 43% female) were included; 62% were referred for GC, and of those who were referred, 79% completed a GC appointment and 77% underwent genetic testing. Of those who underwent testing, 21% had a PGV detected; 82% were in known CRC-associated genes, with those associated with Lynch syndrome and familial adenomatous polyposis the most common, and 11% were in other actionable genes. Referral to GC was positively associated with family history of CRC (odds ratio [OR], 2.11; 95% CI, 1.51-2.96) and more recent year of diagnosis (2010-2013 vs 2017-2019; OR, 5.36; 95% CI, 3.59-8.01) but negatively associated with older age at diagnosis (OR, 0.89; 95% CI, 0.86-0.92).
Referral to GC for patients with EOCRC is increasing over time; however, even in recent years, almost 25% of patients were not referred for GC. We found that 1 in 5 patients with EOCRC carry actionable PGVs, highlighting the need for health systems to implement care pathways to optimize GC referral and testing in all patients with EOCRC.
We conducted a retrospective cohort study of patients aged <50 years diagnosed with colorectal cancer (CRC) from 2010 to 2019 at Cleveland Clinic. Demographic data were extracted, including age, sex, self-reported race, and family history of CRC. The proportions of patients with GC referral and completion of GC and genetic testing were investigated, and genetic testing results were analyzed. Multivariable logistic regression analysis was conducted to identify factors independently associated with GC referral and uptake.
A total of 791 patients with EOCRC (57% male and 43% female) were included; 62% were referred for GC, and of those who were referred, 79% completed a GC appointment and 77% underwent genetic testing. Of those who underwent testing, 21% had a PGV detected; 82% were in known CRC-associated genes, with those associated with Lynch syndrome and familial adenomatous polyposis the most common, and 11% were in other actionable genes. Referral to GC was positively associated with family history of CRC (odds ratio [OR], 2.11; 95% CI, 1.51-2.96) and more recent year of diagnosis (2010-2013 vs 2017-2019; OR, 5.36; 95% CI, 3.59-8.01) but negatively associated with older age at diagnosis (OR, 0.89; 95% CI, 0.86-0.92).
Referral to GC for patients with EOCRC is increasing over time; however, even in recent years, almost 25% of patients were not referred for GC. We found that 1 in 5 patients with EOCRC carry actionable PGVs, highlighting the need for health systems to implement care pathways to optimize GC referral and testing in all patients with EOCRC.
摘要：
背景：早发性结直肠癌（EOCRC）的发病率正在迅速增加。在16％至20％的EOCRC患者中检测到致病性种系变异（PGV），强调在这些患者中需要遗传咨询（GC）和多基因小组检测。我们旨在确定EOCRC患者的GC转诊率和种系检测的摄取率以及结果。
方法：我们在克利夫兰诊所对2010年至2019年诊断为结直肠癌（CRC）的年龄<50岁的患者进行了一项回顾性队列研究。人口数据被提取出来,包括年龄,性别,自我报告的种族，和CRC家族史。调查GC转诊和完成GC及基因检测的患者比例,并对基因检测结果进行了分析。进行了多变量逻辑回归分析，以确定与GC转诊和摄取独立相关的因素。
结果：共纳入了791例EOCRC患者（男性占57％，女性占43％）；62％的患者因GC转诊，以及那些被转介的人，79%完成了GC预约，77%接受了基因检测。在那些接受测试的人中，21%的人检测到PGV；82%的人在已知的CRC相关基因中，与Lynch综合征和家族性腺瘤性息肉病相关的患者最常见，11%在其他可操作的基因中。转诊GC与CRC家族史呈正相关(比值比[OR]，2.11；95%CI，1.51-2.96）和最近一年的诊断（2010-2013年vs2017-2019年；或，5.36；95%CI，3.59-8.01），但与诊断时的年龄呈负相关（OR，0.89；95%CI，0.86-0.92）。
结论：EOCRC患者的GC转诊随着时间的推移而增加；然而，即使在最近几年，近25%的患者未进行GC转诊.我们发现，1/5的EOCRC患者携带可操作的PGV，强调卫生系统需要实施护理路径，以优化所有EOCRC患者的GC转诊和检测。
方法：我们在克利夫兰诊所对2010年至2019年诊断为结直肠癌（CRC）的年龄<50岁的患者进行了一项回顾性队列研究。人口数据被提取出来,包括年龄,性别,自我报告的种族，和CRC家族史。调查GC转诊和完成GC及基因检测的患者比例,并对基因检测结果进行了分析。进行了多变量逻辑回归分析，以确定与GC转诊和摄取独立相关的因素。
结果：共纳入了791例EOCRC患者（男性占57％，女性占43％）；62％的患者因GC转诊，以及那些被转介的人，79%完成了GC预约，77%接受了基因检测。在那些接受测试的人中，21%的人检测到PGV；82%的人在已知的CRC相关基因中，与Lynch综合征和家族性腺瘤性息肉病相关的患者最常见，11%在其他可操作的基因中。转诊GC与CRC家族史呈正相关(比值比[OR]，2.11；95%CI，1.51-2.96）和最近一年的诊断（2010-2013年vs2017-2019年；或，5.36；95%CI，3.59-8.01），但与诊断时的年龄呈负相关（OR，0.89；95%CI，0.86-0.92）。
结论：EOCRC患者的GC转诊随着时间的推移而增加；然而，即使在最近几年，近25%的患者未进行GC转诊.我们发现，1/5的EOCRC患者携带可操作的PGV，强调卫生系统需要实施护理路径，以优化所有EOCRC患者的GC转诊和检测。
