Han Julian, Spigelman Allan D
Faculty of Medicine, St Vincent's Clinical School, The University of New South Wales, Sydney, New South Wales, Australia.
Cancer Genetics Unit, The Kinghorn Cancer Centre, St Vincent's Hospital, Sydney, New South Wales, Australia.
ANZ J Surg. 2019 Oct;89(10):1281-1285. doi: 10.1111/ans.15054. Epub 2019 Mar 11.
To determine the proportion of patients with colorectal cancer and abnormal immunohistochemistry testing of tumour tissue who were referred to a cancer genetic clinic for genetic counselling and possible germline testing of a blood sample for Lynch syndrome.
This is a retrospective cohort study of patients with colorectal cancer and abnormal immunohistochemistry tumour tissue testing from St Vincent's Hospital (between November 2007 and December 2016). Patient list was compared against a state-wide database TrakGene to ascertain the overall referral rate for these patients.
Of 216 patients, the total referral rate was 33.8% (n = 73), of which 27.8% (n = 60) were referred to St Vincent's Hospital's Cancer Genetics Service, 6% (n = 13) were referred externally and the remaining 66.2% (n = 143) were not referred. Binomial regression analysis performed displayed that age influenced likelihood of referral, where patients were 7.7% more likely to be referred for every decreasing year in age (P = 0.0004). Some clinicians were 4.3 times more likely to refer patients compared to others (P = 0.002).
Suboptimal patient uptake for cancer genetics evaluation was found. Identifying barriers to patient referral should lead to changes that increase patient referrals. This will ensure that patients receive adequate education, counselling and management of Lynch syndrome. It would also allow for the identification of further at-risk relatives for whom preventative strategies can be employed. In addition, identification of relatives not at risk by genetic testing will liberate them from unnecessary colonoscopies. Discussion with the clinicians involved has since allowed for copies of the immunohistochemistry results to be forwarded by the Pathology Department to the Cancer Genetics Unit for checking and follow up with the clinician to ensure that their patients are aware of the result and have been offered referral for cancer genetic evaluation. This process is subject to ongoing audit.
确定患有结直肠癌且肿瘤组织免疫组化检测异常的患者中,被转介至癌症基因诊所进行遗传咨询以及可能对血样进行林奇综合征种系检测的患者比例。
这是一项对圣文森特医院(2007年11月至2016年12月期间)患有结直肠癌且肿瘤组织免疫组化检测异常的患者进行的回顾性队列研究。将患者名单与全州范围的数据库TrakGene进行比对,以确定这些患者的总体转诊率。
在216例患者中,总转诊率为33.8%(n = 73),其中27.8%(n = 60)被转介至圣文森特医院的癌症遗传学服务部门,6%(n = 13)被转介至外部机构,其余66.2%(n = 143)未被转介。进行的二项式回归分析显示,年龄影响转诊可能性,年龄每降低一岁,患者被转诊的可能性增加7.7%(P = 0.0004)。与其他临床医生相比,一些临床医生转诊患者的可能性高4.3倍(P = 0.002)。
发现癌症遗传学评估的患者接受度欠佳。识别患者转诊的障碍应能带来增加患者转诊的改变。这将确保患者接受关于林奇综合征的充分教育、咨询和管理。还将有助于识别更多可采用预防策略的高危亲属。此外,通过基因检测识别无风险的亲属将使他们免于不必要的结肠镜检查。此后与相关临床医生的讨论使得病理科将免疫组化结果副本转发至癌症遗传学部门进行检查,并与临床医生跟进,以确保其患者知晓结果并已获得癌症遗传学评估的转诊建议。此过程正在接受持续审核。