Genetic counselling and genetic testing in hereditary gastrointestinal cancer syndromes

作者：Raymond Victoria M^*; Everett Jessica N

来源：Best Practice & Research in Clinical Gastroenterology, 2009, 23(2): 275-283.

DOI：10.1016/j.bpg.2009.02.009

• genetic Counselling
• family planning
• risk
• duty to warn
• communication barriers

Up to 10% of cancers are caused by inherited mutations in single genes. The process of genetic counselling and genetic testing allows for identification of these high-risk individuals and their at risk family members and enrolment into appropriate screening protocols. The medical impact of genetic testing is evidenced by reduced morbidity and mortality, however, the impact on a personal or psychosocial level has been more difficult to evaluate. We present a review of the current literature regarding the role of genetic counselling and testing in the setting of gastrointestinal cancers and explore several related issues including risk perception and risk communication, family communication, psychosocial factors and decision making, and family planning. We also provide guidelines for referral to cancer genetics clinics and for promoting discussions about genetic counselling and genetic testing.

• 出版日期2009-4