Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives
Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives
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DOI：
10.1007/s10689-014-9720-9
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发表时间：
2014-09-01
期刊：
影响因子：
2.2
通讯作者：
Ladabaum, Uri
中科院分区：
文献类型：
--
作者：
Dilzell, Kristen;Kingham, Kerry;Ladabaum, Uri
促进有关林奇综合征的家庭沟通是一项公共卫生优先事项，因为遵循适当的筛查指南可以降低发病率和死亡率。本研究的目的是：(1)确定Lynch综合征患者向有风险的亲属提供哪些教育材料，(2)确定接受教育材料与进行临床随访之间的关系。从斯坦福癌症研究所（Stanford Cancer Institute）和一个支持小组招募的74名参与者完成了一份在线问卷；其中50人首次被诊断为Lynch综合征突变家族（先证者），24人是一级或二级亲属。先证者报告88%（184/209）的一级亲属和64%（161/252）的二级亲属存在突变。先证者与53%的亲属分享了他们的遗传咨询笔记；其他资源，包括家庭信件、个人笔记、检测实验室信息、在线资源、支持小组信息和遗传学转诊，提供给33%或更少的亲属。先证者报告说，女性亲属（p = 0.028）和一级亲属（p = 0.001）更有可能得到材料。接受教育材料的亲属更有可能与临床医生进行随访（74%对22%，千分之一货币符号0.001）并参加遗传咨询预约（43%对16%，千分之一货币符号0.001）。接受教育材料的一级亲属更有可能进行基因检测（51%对19%，p = 0.012）和癌症筛查（69%对29%，p = 0.001）。使用教育材料促进Lynch综合征家庭的信息传递可能在知情的临床决策和高危亲属的级联筛查中发挥作用。
Facilitating family communication about Lynch syndrome is a public health priority since following appropriate screening guidelines can decrease morbidity and mortality. The aims of this study were to (1) ascertain what educational materials individuals with Lynch syndrome provide to at-risk relatives, and (2) identify relationships between receiving educational materials and pursuing clinical follow-up. Seventy-four participants, recruited from the Stanford Cancer Institute and a support group, completed an online questionnaire; 50 were first to be diagnosed with a Lynch syndrome mutation in their family (probands) and 24 were first or second-degree relatives. Probands reported informing 88 % (184/209) of first-degree relatives and 64 % (161/252) of second-degree relatives of the mutation. Probands shared their genetic counseling note with 53 % of relatives; other resources, including family letters, personal notes, testing laboratory information, online resources, support group information, and genetics referrals, were given to 33 % or fewer relatives. Probands reported that female relatives (p = 0.028) and first-degree relatives (p a parts per thousand currency sign 0.001) were more likely to be given materials. Relatives who received an educational material were more likely to follow up with a clinician (74 vs 22 %, p a parts per thousand currency sign0.001) and attend a genetic counseling appointment (43 vs 16 %, p a parts per thousand currency sign 0.001). First-degree relatives who received an educational material were more likely to have undergone genetic testing (51 vs 19 %, p = 0.012) and cancer screening (69 vs 29 %, p = 0.001). Facilitating information transmission in families with Lynch syndrome using educational materials may play a role in informed clinical decision-making and cascade screening of at-risk relatives.