Aktan-Collan K, Haukkala A, Pylvänäinen K, Järvinen H J, Aaltonen L A, Peltomäki P, Rantanen E, Kääriäinen H, Mecklin J-P
J Med Genet. 2007 Nov;44(11):732-8. doi: 10.1136/jmg.2007.051581. Epub 2007 Jul 14.
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.
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.
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.
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.
如果在家族中不采取有效的癌症预防措施，确定癌症的遗传易感性意义有限。传统上，先证者需告知其亲属患癌风险增加，但远亲可能仍不知情。因此采取了直接联系假定未意识到自身患癌风险增加的高危人群的方法。以癌症预防为最终目标，本研究旨在调查对这一新颖策略的态度及其心理社会影响。
在遗传性非息肉病性结直肠癌（林奇综合征）家族中，通过信件联系了286名有50%携带易感突变风险的健康成年亲属。其中，112人参与了咨询和预测性检测。将73名受访者的基线信息和检测后1个月获得的信息与这些家族中通过先证者联系（我们之前研究中的家族介导方法）的299名相应受试者进行比较。
收到联系信后，51%的人同意参与研究。其中，92%的人认可直接联系，33%的人曾试图寻求信息。在34%的突变携带者中，首次检测后的结肠镜检查发现了肿瘤。尽管检测后突变携带者对癌症的恐惧增加，非携带者的恐惧减少，但几乎所有参与者对参与决定都很满意，无论检测结果如何，这与家族介导方法类似。
在这项大规模研究中，主动联系癌症家族中的亲属，告知他们病情并提供遗传咨询。他们的态度令人鼓舞，心理社会影响与家族介导方法相似。我们的结果表明，对于危及生命的可治疗疾病，直接联系作为一种替代联系方法是合适的。
