对癌症易感基因的生殖系基因检测已成为癌症治疗和降低风险的重要组成部分。国家综合癌症网络(NCCN)发布年度基因检测指南,以确定可能受遗传性癌症综合征影响的患者的特征。随着时间的推移,这些指南已经扩大,对过去癌症遗传学诊所患者的影响还没有得到很好的理解。这项研究是一项回顾性图表审查,旨在确定符合更新的NCCN指南的过去患者的百分比和特征(乳腺,卵巢,和胰腺[BOP]v1.2022和结直肠[CRC]v1.2021),参加随访的患者,和继续接受基因检测的患者。比较了整个研究人群与符合更新的NCCN指南BOPv1.2022和CRCv1.2021的患者队列之间的临床数据和特征。研究人群由280名患者组成,其中76名(27.1%)患者符合更新的NCCN指南BOPv1.2022和CRCv1.2021。最初的癌症遗传咨询预约的年份具有统计学意义(p=0.023),患者更有可能符合NCCN指南BOPv1.2022和CRCv1.2021,而最初的癌症遗传咨询预约较早。在符合更新的NCCN指南BOPv1.2022和CRCv1.2021的队列中,最常见的原因是NCCN指南(BOP或CRC)的变化(54/76,71.1%),在任何年龄诊断为三阴性乳腺癌是最有影响力的指南变化(19/54,35.2%)。21名患者参加了随访预约(7.5%),在接受基因检测的患者中(17/21,81%)大多数获得阴性结果(13/17,61.9%),有一种致病性,低外显率结果(1/17,5.9%,CHEK2p.I157T)。提供者发起的随访归因于大多数随访预约(16/21,76.2%),这意味着患者不倾向于自行随访。对非遗传学提供者的教育以及有针对性地实施可能由遗传咨询助理管理的随访协议,并利用电子病历(EMR)患者消息传递可以改善患者随访。
Germline genetic testing for cancer predisposition genes has become an essential component of cancer treatment and risk reduction. The National Comprehensive Cancer Network (NCCN) releases annual genetic testing
guidelines that identify characteristics of patients that could be affected by a hereditary cancer syndrome. These
guidelines have broadened over time and the implications for past patients of cancer genetics clinics are not well understood. This study is a retrospective chart review aimed at determining the percentage and characteristics of past patients that meet updated NCCN guidelines (Breast, Ovarian, and Pancreas [BOP] v1.2022 and Colorectal [CRC] v1.2021), patients that attended a follow-up appointment, and patients who went on to receive genetic testing. Clinical data and characteristics were compared between the study population as a whole and the cohort of patients that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The study population consisted of 280 patients with 76 (27.1%) patients meeting updated NCCN
guidelines BOP v1.2022 and CRC v1.2021. The year of initial cancer genetic counseling appointment was statistically significant (p = 0.023) with patients more likely to meet NCCN guidelines BOP v1.2022 and CRC v1.2021 with earlier initial cancer genetic counseling appointments. In the cohort that met updated NCCN
guidelines BOP v1.2022 and CRC v1.2021, the most common reason was a change in the NCCN guidelines (BOP or CRC) (54/76, 71.1%) with triple-negative breast cancer diagnosed at any age being the most impactful
guideline change (19/54, 35.2%). Twenty-one patients attended a follow-up appointment (7.5%) and of those that received genetic testing (17/21, 81%) most received negative results (13/17, 61.9%), with one pathogenic, low penetrance result (1/17, 5.9%, CHEK2 p.I157T). Provider-initiated follow-up was attributed to most follow-up appointments (16/21, 76.2%) implying patients do not tend to follow-up on their own. Education to non-genetics providers as well as targeted implementation of follow-up protocols possibly managed by genetic counseling assistants and utilizing electronic medical record (EMR) patient messaging could lead to improved patient follow-up.