Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing
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DOI：
10.1136/jmg.2007.051581
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发表时间：
2007-11-01
影响因子：
4
通讯作者：
Mecklin, J-P
中科院分区：
文献类型：
--
作者：
Aktan-Collan, K.;Haukkala, A.;Mecklin, J-P
背景：如果不在家庭中进行有效的癌症预防，那么识别癌症遗传倾向的意义有限。传统上，先证者会告知其亲属风险增加的情况，但远亲可能仍然不知情。采取了一种直接接触高危人群的方法，这些人群被认为不知道自己的癌症风险增加。该研究以癌症预防为最终目标，旨在调查人们对这一新策略的态度和社会心理后果。方法：在患有遗传性非息肉病性结直肠癌（林奇综合征）的家庭中，通过信件联系了 286 名具有 50% 诱发突变风险的健康成年亲属。其中，112 人参与了咨询和预测测试。将 73 名受访者的基线信息和测试后 1 个月获得的信息与 299 名相应受试者进行比较，这些受试者是通过这些家庭中的先证者（我们之前的研究中的家庭介导方法）接触的。结果：在联系信函发出后，51% 的人同意这项研究。其中，92% 的人同意直接联系，33% 的人曾尝试寻求信息。 34% 的突变携带者在第一次测试后结肠镜检查中发现了肿瘤。尽管测试后突变携带者对癌症的恐惧增加，非携带者减少，但几乎所有参与者都对他们的参与决定感到满意，与他们的测试结果无关，与家庭介导的方法平行。结论：在这项大规模研究中，积极联系癌症家庭的亲属，告知他们病情和遗传咨询。他们的态度令人鼓舞，心理社会后果与家庭介导的方法类似。我们的结果表明，在危及生命的可治疗疾病的情况下，直接接触作为替代接触方法是适当的。
Background: Identification of hereditary predisposition to cancer has limited significance if not followed by efficient cancer prevention in the family. Probands are traditionally left to inform their relatives about the increased risk, but distant relatives may remain uninformed. An approach to contacting directly at-risk persons assumed to be unaware of their increased cancer risk was taken. With cancer prevention as the ultimate goal, the study was aimed at investigating attitudes towards and psychosocial consequences of this novel strategy.Methods: In families with hereditary non-polyposis colorectal cancer (Lynch syndrome), 286 healthy adult relatives with a 50% risk of a predisposing mutation were contacted by letter. Of these, 112 participated in counselling and predictive testing. Baseline information and information obtained 1 month after the test for 73 respondents were compared with 299 corresponding subjects, approached via the proband (family-mediated approach in our previous study) in these families.Results: After the contact letter, 51% consented to the study. Of these, 92% approved of the direct contact and 33% had tried to seek information. In 34% of the mutation carriers, neoplasia was identified in the first post-test colonoscopy. Although post-test fear of cancer increased among the mutation carriers and decreased among noncarriers, almost all participants were satisfied with their decision to participate, independently of their test results, parallel to the family-mediated approach.Conclusion: In this large-scale study, relatives in cancer families were actively contacted to inform them of the condition and genetic counselling. Their attitudes were encouraging, and the psychosocial consequences were similar to the family-mediated approach. Our results suggest the appropriateness of direct contact as an alternative method of contact in cases of life-threatening treatable disease.