Kessels Koen, Eisinger Joey D, Letteboer Tom G, Offerhaus G Johan A, Siersema Peter D, Moons Leon M G
Department of Gastroenterology and Hepatology, Utrecht University Medical Center, Utrecht, The Netherlands.
Department of Gastroenterology and Hepatology, St Antonius Hospital, Nieuwegein, The Netherlands.
J Dig Dis. 2017 Jun;18(6):343-348. doi: 10.1111/1751-2980.12491.
To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling.
A questionnaire was mailed to patients before they underwent outpatient colonoscopy at a university hospital in 2013. These patients' additional characteristics and referral for genetic evaluation were retrieved from the electronic medical records. Patients undergoing inpatient coloboscopy, with confirmed hereditary colorectal cancer (CRC) or inflammatory bowel disease were excluded. All study patients from 2010 to 2013 were matched with the database of the genetics department to determine who consulted a geneticist.
A total of 6163 patients underwent colonoscopy from 2010 to 2013. Of 1421 who underwent colonoscopy in 2013, 53 (3.7%) consulted a geneticist, while 75 (1.6%) of 4742 patients undergoing colonoscopy between 2010 and 2012 did so (P < 0.01). A total of 974 patients undergoing colonoscopy in 2013 were included to evaluate the completed questionnaire. Of these, 282 (29.0%) completed the questionnaire. Family history was not recorded in the electronic medical records of 393 (40.3%). In 129 (32.8%), family history was obtained from the completed questionnaire. In 2013, 49 (60.5%) out of 81 patients referred for genetic counseling were referred based on their family history. Eight (9.9%) patients were referred based on the completed questionnaire.
Screening for hereditary CRC in a population undergoing outpatient colonoscopy with a questionnaire sent by mail resulted in an increased availability of family histories and genetic counseling.
调查在结肠镜检查前向患者发送家族史问卷是否会提高家族史的可得性并改善遗传咨询。
2013年，在一家大学医院对即将接受门诊结肠镜检查的患者邮寄了一份问卷。这些患者的其他特征以及遗传评估转诊情况从电子病历中获取。排除接受住院结肠镜检查、确诊为遗传性结直肠癌（CRC）或炎症性肠病的患者。将2010年至2013年的所有研究患者与遗传学部门的数据库进行匹配，以确定谁咨询了遗传学家。
2010年至2013年共有6163例患者接受了结肠镜检查。2013年接受结肠镜检查的1421例患者中，53例（3.7%）咨询了遗传学家，而2010年至2012年接受结肠镜检查的4742例患者中有75例（1.6%）咨询了遗传学家（P<0.01）。2013年共有974例接受结肠镜检查的患者被纳入以评估问卷填写情况。其中，282例（29.0%）完成了问卷。393例（40.3%）的电子病历中未记录家族史。129例（32.8%）的家族史是从填写完整的问卷中获得的。2013年，81例被转诊进行遗传咨询的患者中，49例（60.5%）是基于家族史被转诊的。8例（9.9%）患者是基于填写完整的问卷被转诊的。
通过邮寄问卷对接受门诊结肠镜检查的人群进行遗传性CRC筛查，提高了家族史和遗传咨询的可得性。
