Psychosocial aspects after disclosure of genetic test results regarding hereditary cancer and construction of cancer genetic counseling system

目的：本研究的目的是确定日本先证者和未受影响的亲属在测试结果公布后1个月和1年的患病率和心理影响的预测因素。方法：在第一次非息肉病性结直肠癌(HNPCC)的遗传咨询后立即对先证者和未受影响的亲属进行访谈，并在测试结果公布后1个月和1年再次进行访谈。采用基于《精神障碍诊断与统计手册》(DSM-III-R；修订版)或DSM-IV修订版的结构化临床访谈法，对重度和轻度抑郁、急性应激障碍、创伤后应激障碍(PTSD)和创伤后应激症状(PTSS)的患病率进行评估。结果：在47名完成基线访谈的受试者中，42名(89%)完成了1个月的随访访谈，30名(%)完成了1年的随访访谈。虽然在后续访谈中，没有一名参与者达到重度抑郁、自闭症或创伤后应激障碍的标准，但42名参与者中有3名和30名参与者中有4名符合轻度抑郁的标准，2名和3名参与者患有PTSS。预测心理影响的因素是神经质和言语记忆障碍。结论：HNPCC基因检测结果的披露可能不会对日本先证者或亲属造成明显的心理痛苦。然而，医疗保健提供者不应忽视评估这些人的心理反应，如轻微抑郁和猫咪。此外，还建议对具有上述危险因素的被试建立跟踪系统，以最大限度地减少测试结果公布后的心理影响。

Purpose : The objectives of this study were to identify the prevalence and predictors of psychological impacts one month and one year after disclosure of the test results in Japanese probands and unaffected relatives.Methods : Probands and unaffected relatives were interviewed immediately after the first genetic counseling session for nonpolyposis colorectal carcinoma (HNPCC) and again one month and one year after disclosure of the test results. The prevalence of major and minor depression, acute stress disorder, posttraumatic stress disorder (PTSD), and posttraumatic stress symptoms (PTSS) were assessed using the Structured Clinical Interview based on the Diagnostic and Statistical Manual of Mental Disorders, 3^<rd> edition revised (DSM-III-R) or the DSM-IV. Factors associated with psychological impacts one month after disclosure of the test results were assessed.Results : Among 47 participants who completed the baseline interview, 42 participants (89%) and 30 participants (64%) completed the 1-month and 1-year follow-up interview, respectively. Although none of the participants met the criteria for major depression, ASD, or PTSD at the follow up interview, 3 of 42 participants and 4 of 30 participants met the criteria for minor depression, and 2 and 3 participants had PTSS. The predictors of psychological impact found were neuroticism and verbal memory dysfunction.Conclusions : Disclosure of genetic test results for HNPCC may not cause significant psychological distress in Japanese probands or relatives. However, healthcare providers should not neglect to assess these individuals for psychological responses, such as minor depression and PUSS. Furthermore, it was suggested that constructing of follow-up system for the subjects who have the above risk factors makes it possible to minimize psychological impacts after disclosure of the test results.