The National Cancer Institute sponsored a workshop that explored the impact of polygenes on cancer screening and resulted in a call for additional research and evaluation. Such a strategy has significant implications for quality of care and health care costs, and also moves us closer to precision prevention. Persons at the high end of the score could be screened more, whereas people at the lower end of the risk score could be screened less or not at all. This holds great promise in “stratifying” the population for screening and prevention. For people at the extremes of the distribution, disease risk can be markedly increased, however. As a result, nearly all individuals are at slightly increased or slightly decreased genetic risk for any given disease, as compared with the average population risk. Collectively thus far, analyses have shown that the contribution of multiple variants will be limited in predicting disease for any individual variant due to the small effect of individual variants on disease risk. GRS for various diseases, such as type 2 diabetes, hypertension, coronary heart disease, breast cancer, prostate cancer, multiple sclerosis, and others, have been developed but have largely undefined clinical validity and utility in unselected populations. The contributions of these multiple genes to most common diseases can be captured under the heading of polygenic inheritance, in which additive effects of numerous genes create a normal distribution of disease risk in the population that can be quantified using additive genetic risk scores. In the past two decades, however, genome-wide association studies (GWAS) have uncovered many variants throughout the human genome in multiple genes, each with modest increased risk (e.g., relative risks of 1.1 or 1.2) acting together and along with environmental factors to cause common diseases. For most common diseases, such as cancer and diseases of the heart and blood vessels, the contribution of genetic diseases to the total burden of disease in the population is modest, accounting for less than 5-10% of cases in the population.
These genes are passed on in families using Mendelian principles (e.g., autosomal recessive or dominant). At the extreme, we have thousands of individually rare and collectively common “genetic diseases ,” such as Phenylketonuria and cystic fibrosis that have genetic changes (or mutations) that can lead to high risk of disease. Genes are involved in almost all aspects of health and disease. So what are genetic risk scores and what is the fuss about them for clinical and public health practice? Please state your name, SOA or BOF membership number and address.Genetic risk scores hold great promise in “stratifying” the population for screening and prevention. If you’re reading the electronic version, and would prefer a paper copy of SCORE, please contact Administrator at the National Orienteering Centre at Glenmore Lodge.
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#SCORELAND MAGAZINE JANUARY 2018 PDF#
Whether it appears as a single page or two facing pages is usually a setting you can adjust in your PDF viewer. You then need to go to that folder and double click on it to open it in whatever application you use for viewing PDF’s.
#SCORELAND MAGAZINE JANUARY 2018 DOWNLOAD#
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