Genetic counselling and genetic testing in hereditary gastrointestinal cancer syndromes.
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.
Raymond
Victoria M
VM
Department of Internal Medicine, University of Michigan, 300 North Ingalls, Ann Arbor, MI 48109-0419, USA. vraymond@umich.edu
Everett
Jessica N
JN
D000223:Adaptation, Psychological; D003144:Communication Barriers; D005193:Family Planning Services; D005195:Family Relations; D005770:Gastrointestinal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D015972:Gene Expression Regulation, Neoplastic; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D030661:Genetic Privacy; D005820:Genetic Testing / Q000523:psychology; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D010353:Patient Education as Topic; D010375:Pedigree; D010465:Perception; D010817:Physician-Patient Relations; D017410:Practice Guidelines as Topic; D011237:Predictive Value of Tests; D018570:Risk Assessment