Risk Assessment and Pharmacogenetics in Molecular and Genomic Epidemiology
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In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.
Abstract
In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.
참고문헌 (48)
- Schulte PA, "Using molecular epidemiology in assessing exposure for risk assessment", Ann N Y Acad Sci, 895, pp.101~111 (1999)
- Wilson PW, "Prediction of coronary heart disease using risk factor categories", Circulation, 97(18), pp.1837~1847 (1998)
- Kannel WB, "A general cardiovascular risk profile: The Framingham Study", Am J Cardiol, 1, pp.46~51 (1976)
- Gail MH, "Projecting individualized probabilities of developing breast cancer for white females who are being examined annually", J Natl Cancer Inst, 81(24), pp.1879~1886 (1989)
- Selvachandran SN, "Prediction of colorectal cancer by a patient consultation questionnaire and scoring system: A prospective study", Lancet, 360(9329), pp.278~283 (2002)
- Imperiale TF, "Using risk for advanced proximal colonic neoplasia to tailor endoscopic screening for colorectal cancer", Ann Intern Med, 139(12), pp.959~965 (2003)
- Spitz MR, "A risk model for prediction of lung cancer", J Natl Cancer Inst, 99(9), pp.715~726 (2007)
- Bach PB, "Variations in lung cancer risk among smokers", J Natl Cancer Inst, 95(6), pp.470~478 (2003)
- Fears TR, "Identifying individuals at high risk of melanoma: A practical predictor of absolute risk", J Clin Oncol, 24(22), pp.3590~3596 (2006)
- Optenberg SA, "Development of a decision-making tool to predict risk of prostate cancer: The Cancer of the Prostate Risk Index (CAPRI) test", Urology, 50(5), pp.665~672 (1997)
- Colditz GA, "Harvard report on cancer prevention volume 4. Harvard Cancer Risk Index: Risk Index Working Group, Harvard Center for Cancer Prevention", Cancer Causes Control, 11(6), pp.477~488 (2000)
- Berry DA, "Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history", J Natl Cancer Inst, 89(3), pp.227~238 (1997)
- Wang W, "PancPRO: Risk assessment for individuals with a family history of pancreatic cancer", J Clin Oncol, 25(11), pp.1417~1422 (2007)
- Claus EB, "Autosomal dominant inheritance of early-onset breast cancer: Implications for risk prediction", Cancer, 73(3), pp.643~651 (1994)
- Cuzick J, "First results from the International Breast Cancer Intervention Study (IBIS-I): A randomised prevention trial", 360(9336), pp.817~824 (2002)
- Beane J, "A prediction model for lung cancer diagnosis that integrates genomic and clinical features", Cancer Prev Res (Phila Pa), 1(1), pp.56~64 (2008)
- McCanlies E, "Significance of genetic information in risk assessment and individual classification using silicosis as a case model", Ann Occup Hyg, 46(4), pp.375~381 (2002)
- Demchuk E, "A statistical model for assessing genetic susceptibility as a risk factor in multifactorial diseases: Lessons from occupational asthma", Environ Health Perspect, 115(2), pp.231~234 (2007)
- "Risk Assessment Tool for Estimating Your 10-year Risk of Having a Heart Attack"[URL]
- "Breast cancer risk assessment tool"[URL]
- Johnson KM, "Traditional clinical risk assessment tools do not accurately predict coronary atherosclerotic plaque burden: A CT angiography study", AJR Am J Roentgenol, 192(1), pp.235~243 (2009)
- Akosah KO, "Preventing myocardial infarction in the young adult in the first place: How do the National Cholesterol Education Panel III guidelines perform?", J Am Coll Cardiol, 41(9), pp.1475~1479 (2003)
- Nasir K, "Detection of high-risk young adults and women by coronary calcium and National Cholesterol Education Program Panel III guidelines", J Am Coll Cardiol, 46(1), pp.1931~1936 (2005)
- Bellcross CA, "Evaluation of a breast", ovarian cancer genetics referral screening tool in a mammography population, 2009, pp.11, ~
- Gail MH, "Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk", J Natl Cancer Inst, 100(14), pp.1037~1041 (2008)
- Gail MH, "Value of adding single-nucleotide polymorphism genotypes to a breast cancer risk model", J Natl Cancer Inst, 101(13), pp.959~963 (2009)
- Buyse M, "Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer", J Natl Cancer Inst, 98(17), pp.1183~1192 (2006)
- Food and Drug Administration, "International Conference on Harmonisation;Guidance on E15 pharmacogenomics Definitions and Sample Coding; Availability. notice", Fed Regist, 73(68), pp.19074~19076 (2008)
- Meyer UA, "Pharmacogenetic: five decades of therapeutic lessons from genetic diversity", Nat Rev Genet, 5(9), pp.669~676 (2004)
- Roses AD, "Pharmacogenetics in drug discovery and development: A translational perspective", Nat Rev Drug Discov, 7(10), pp.807~817 (2008)
- Relling MV, "Mercaptopurine therapy intolerance and heterozygosity at the thiopurine Smethyltransferase gene locus", J Natl Cancer Inst, 91(23), pp.2001~2008 (1999)
- Simon T, "Genetic determinants of response to clopidogrel and cardiovascular events", N Engl J Med, 360(4), pp.363~375 (2009)
- Innocenti F, "Comprehensive pharmacogenetic analysis of irinotecan neutropenia and pharmacokinetics", J Clin Oncol, 27(16), pp.2604~2614 (2009)
- Chung WH, "Medical genetics: A marker for Stevens-Johnson syndrome", Nature, 428(6982), pp.486~ (2004)
- Wu X, ""Strategies to identify pharmacogenomic biomarkers: Candidate gene, pathway-based, and genome-wide approaches," in: Innocenti F, editor. Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response", Humana Press, pp.353~370 (2009)
- Klein TE, "Estimation of the warfarin dose with clinical and pharmacogenetic data", N Engl J Med, 360(8), pp.753~764 (2009)
- Quintela-Fandino M, "Cortes-Funes H, et al. DNA-repair gene polymorphisms predict favorable clinical outcome among patients with advanced squamous cell carcinoma of the head and neck treated with cisplatin-based induction chemotherapy", J Clin Oncol, 24(26), pp.4333~4339 (2006)
- Wu X, "Pharmacogenetics in cancer chemotherapy. In: Rebbeck TR, Ambrosone CB, Shields PG, editors", pp.113~128 (2008), Informa Heathcare
- Wang WY, "Genome-wide association studies: Theoretical and practical concerns", Nat Rev Genet, 6(2), pp.109~118 (2005)
- Ziegler A, "Biostatistical aspects of genome-wide association studies", Biom J, 50(1), pp.8~28 (2008)
- Hirschhorn JN, "Genomewide association studies: Illuminating biologic pathways", N Engl J Med, 360(17), pp.1699~1701 (2009)
- "A Catalog of Published Genome-Wide Association Studies"[URL]
- Link E, "SLCO1B1 variants and statin-induced myopathy: A genomewide study", N Engl J Med, 359(8), pp.789~799 (2008)
- "Guidance for Industry Pharmacogenomic Data Submissions"[URL]
- Mandrekar SJ, "Clinical trial designs for predictive biomarker validation:Theoretical considerations and practical challenges", J Clin Oncol, 27(2), pp.4027~4034 (2009)
- Sparano JA, "Development of the 21-gene assay and its application in clinical practice and clinical trials", J Clin Oncol, 26(5), pp.721~728 (2008)
- "Table of Valid Genomic Biomarkers in the Context of Approved Drug Labels"[URL]
- Ulrich CM, ""Molecular epidemiology designs for prognosis," in:Rebbeck TR, Ambrosone CB, Shields PG, editors. Molecular Epidemiology: Applications in Cancer and Other Human Diseases", pp.41~52 (2008), Informa Heathcare
