Kinney A Y, DeVellis B M, Skrzynia C, Millikan R
University of Utah College of Nursing, Salt Lake City, Utah 84112, USA.
Cancer. 2001 Jan 1;91(1):57-65. doi: 10.1002/1097-0142(20010101)91:1<57::aid-cncr8>3.0.co;2-u.
Colorectal carcinoma (CRC) may be the most frequent form of hereditary cancer. Genetic counseling and testing for heritable CRC is a promising approach for reducing the high incidence and mortality rates associated with the disease. Patients with CRC or those with at least one family member with the disease are the most likely persons to request or be offered genetic testing in the clinical or research setting. Currently, however, little is known about the behavioral, psychosocial, ethical, legal, and economic outcomes of CRC genetic counseling and testing.
Eight focus group interviews, four for CRC patients (n = 28) and four for first-degree relatives (n = 33), were conducted to obtain insights into attitudes, beliefs, and informational needs about genetic testing for hereditary CRC.
Focus group interviews revealed a general lack of knowledge about cancer genetics and genetic testing; worry about confidentiality issues; strong concern for family members, particularly children; and a need for primary care providers to be informed about these issues. Major perceived advantages of genetic testing included improving health-related decisions, guiding physicians in making recommendations for surveillance, and informing relatives about risk potential. Disadvantages included potential discrimination, adverse psychologic effects, and financial costs associated with testing.
As knowledge and media coverage of genetics continue to expand, it becomes increasingly important to continue efforts on behalf of, and in partnership with, those individuals most affected by genetic testing for hereditary cancer syndromes. These findings provide data needed to develop and implement informational, educational, counseling, and research-oriented programs that are sensitive to individuals' concerns and preferences.
结直肠癌（CRC）可能是遗传性癌症最常见的形式。对遗传性结直肠癌进行遗传咨询和检测是降低该疾病高发病率和死亡率的一种有前景的方法。患有结直肠癌的患者或至少有一名家庭成员患有该疾病的人是临床或研究环境中最有可能要求或接受基因检测的人群。然而，目前对于结直肠癌遗传咨询和检测的行为、心理社会、伦理、法律和经济结果知之甚少。
进行了八次焦点小组访谈，其中四次针对结直肠癌患者（n = 28），四次针对一级亲属（n = 33），以深入了解对遗传性结直肠癌基因检测的态度、信念和信息需求。
焦点小组访谈显示，普遍缺乏癌症遗传学和基因检测知识；担心保密问题；对家庭成员，尤其是孩子极为关注；并且需要让初级保健提供者了解这些问题。基因检测的主要预期优势包括改善与健康相关的决策、指导医生进行监测建议以及告知亲属潜在风险。劣势包括潜在的歧视、不良心理影响以及与检测相关的财务成本。
随着遗传学知识和媒体报道的不断扩展，代表那些受遗传性癌症综合征基因检测影响最大的个人并与他们合作继续努力变得越来越重要。这些发现提供了制定和实施对个人关注和偏好敏感的信息、教育、咨询和研究项目所需的数据。
