Genetics, Genomics, and Risk
Posted 8/24/2011
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This is one for the science geeks among us. Even those of us who are less "geeky" have heard the buzz words of genetics, genomics, and personalized medicine. This article helps us understand what that all means. Here is the abstract and a link:
Genetics, Genomics, and Cancer Risk Assessment
State of the Art and Future Directions in the Era of Personalized Medicine
Jeffrey N. Weitzel, MD1; Kathleen R. Blazer, EdD, MS, CGC2; Deborah J. MacDonald, PhD, RN, APNG3; Julie O. Culver, MS, CGC4; Kenneth Offit, MD, MPH5
Abstract
Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screen- ing and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph, we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits, and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly penetrant genes are provided and contrasted with recently discovered genomic variants associated with modest increases in cancer risk. We describe the scope of knowledge, tools, and expertise required for the translation of complex genetic and genomic test information into clinical practice. The challenges of genomic coun- seling include the need for genetics and genomics professional education and multidisciplinary team training, the need for evidence-based information regarding the clinical utility of testing for genomic variants, the potential dangers posed by premature marketing of first-generation genomic profiles, and the need for new clinical models to improve access to and responsible communication of complex disease risk information. We conclude that given the experiences and les- sons learned in the genetics era, the multidisciplinary model of genetic cancer risk assessment and management will serve as a solid foundation to support the integration of personalized genomic information into the practice of cancer medicine. CA Cancer J Clin 2011;00:000-000. VC 2011 American Cancer Society.
http://onlinelibrary.wiley.com/doi/10.3322/caac.20128/abstract
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