Genetic counseling and predictive testing for colorectal cancer risk.
In contrast to our rapidly increasing knowledge of the genetic basis of colorectal cancer and new molecular technologies, we are only in the early stages of characterizing the impact that this information will have on patients, their families and society. From our research and clinical experience with hereditary colorectal cancer syndromes, we have developed a framework for risk assessment that includes criteria for identifying those at higher genetic risk and guidelines for genetic counseling, predictive genetic testing and follow-up management. More research is needed to optimally translate this framework into wider clinical practice, including characterizing genetic heterogeneity and phenotype correlations, documenting the efficacy of screening and surgical interventions, and maximizing the awareness of health professionals on genetic counseling and the promise and limitations of gene tests.
Petersen
G M
GM
Department of Epidemiology, The Johns Hopkins School of Hygiene and Public Health, Baltimore, MD, 21205, USA.
D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000517:prevention & control*; D005817:Genetic Counseling; D006801:Humans; D011237:Predictive Value of Tests; D012307:Risk Factors