It may happen soon. A patient, perhaps one you have known foryears, who is overweight and does not exercise regularly, showsup in your office with an analysis of his whole genome at multiplesingle-nucleotide polymorphisms (SNPs). His children, who wereconcerned about his health, spent $1,000 to give him the analysisas a holiday gift. The test report states that his genomic profileis consistent with an increased risk of both heart disease anddiabetes, and because the company that performed the analysisstated that the test was "not a clinical service to be usedas the basis . . . [Full Text of this Article]
Source Information
Dr. Hunter is a professor in the Departments of Epidemiology and Nutrition at the Harvard School of Public Health, Boston, and a statistical consultant to the Journal. Dr. Khoury is the director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention, Atlanta. Dr. Drazen is the editor-in-chief of the Journal. The opinions expressed in this article do not necessarily reflect the views of the Department of Health and Human Services.
An interview with Dr. Muin Khoury, director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention, can be heard at www.nejm.org.
Pereira, T. V., Patsopoulos, N. A., Salanti, G., Ioannidis, J. P. A.
(2009). Discovery Properties of Genome-wide Association Signals From Cumulatively Combined Data Sets. Am J Epidemiol
170: 1197-1206
[Abstract][Full Text]
Simon, R. M., Paik, S., Hayes, D. F.
(2009). Use of Archived Specimens in Evaluation of Prognostic and Predictive Biomarkers. JNCI J Natl Cancer Inst
101: 1446-1452
[Abstract][Full Text]
Kapa, S., Tester, D. J., Salisbury, B. A., Harris-Kerr, C., Pungliya, M. S., Alders, M., Wilde, A. A.M., Ackerman, M. J.
(2009). Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations From Benign Variants. Circulation
120: 1752-1760
[Abstract][Full Text]
Salanti, G., Southam, L., Altshuler, D., Ardlie, K., Barroso, I., Boehnke, M., Cornelis, M. C., Frayling, T. M., Grallert, H., Grarup, N., Groop, L., Hansen, T., Hattersley, A. T., Hu, F. B., Hveem, K., Illig, T., Kuusisto, J., Laakso, M., Langenberg, C., Lyssenko, V., McCarthy, M. I., Morris, A., Morris, A. D., Palmer, C. N. A., Payne, F., Platou, C. G. P., Scott, L. J., Voight, B. F., Wareham, N. J., Zeggini, E., Ioannidis, J. P. A.
(2009). Underlying Genetic Models of Inheritance in Established Type 2 Diabetes Associations. Am J Epidemiol
170: 537-545
[Abstract][Full Text]
Khoury, M. J., Bertram, L., Boffetta, P., Butterworth, A. S., Chanock, S. J., Dolan, S. M., Fortier, I., Garcia-Closas, M., Gwinn, M., Higgins, J. P. T., Janssens, A. C. J. W., Ostell, J., Owen, R. P., Pagon, R. A., Rebbeck, T. R., Rothman, N., Bernstein, J. L., Burton, P. R., Campbell, H., Chockalingam, A., Furberg, H., Little, J., O'Brien, T. R., Seminara, D., Vineis, P., Winn, D. M., Yu, W., Ioannidis, J. P. A.
(2009). Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases. Am J Epidemiol
170: 269-279
[Abstract][Full Text]
Green, R. C., Roberts, J. S., Cupples, L. A., Relkin, N. R., Whitehouse, P. J., Brown, T., Eckert, S. L., Butson, M., Sadovnick, A. D., Quaid, K. A., Chen, C., Cook-Deegan, R., Farrer, L. A., the REVEAL Study Group,
(2009). Disclosure of APOE Genotype for Risk of Alzheimer's Disease. NEJM
361: 245-254
[Abstract][Full Text]
Farkas, D. H., Holland, C. A.
(2009). Direct-to-Consumer Genetic Testing: Two Sides of the Coin. J. Mol. Diagn.
11: 263-265
[Full Text]
Marietta, C., McGuire, A. L.
(2009). Currents in Contemporary Ethics: Direct-to-Consumer Genetic Testing: Is It the Practice of Medicine?. J Law Med Ethics
37: 369-374
Shin, J., Kayser, S. R., Langaee, T. Y.
(2009). Pharmacogenetics: from discovery to patient care. Am J Health Syst Pharm
66: 625-637
[Abstract][Full Text]
Roukos, D. H.
(2009). Twenty-One-Gene Assay: Challenges and Promises in Translating Personal Genomics and Whole-Genome Scans Into Personalized Treatment of Breast Cancer. JCO
27: 1337-1338
[Full Text]
Ding, K., Kullo, I. J.
(2009). Genome-wide Association Studies for Atherosclerotic Vascular Disease and Its Risk Factors.. Circ Cardiovasc Genet
2: 63-72
[Full Text]
Bloomgarden, Z. T.
(2009). Topics in Type 2 Diabetes and Insulin Resistance. Diabetes Care
32: e13-e19
[Full Text]
Attia, J., Ioannidis, J. P. A., Thakkinstian, A., McEvoy, M., Scott, R. J., Minelli, C., Thompson, J., Infante-Rivard, C., Guyatt, G.
(2009). How to Use an Article About Genetic Association: C: What Are the Results and Will They Help Me in Caring for My Patients?. JAMA
301: 304-308
[Abstract][Full Text]
Ioannidis, J. P.A.
(2009). Personalized Genetic Prediction: Too Limited, Too Expensive, or Too Soon?. ANN INTERN MED
150: 139-141
[Full Text]
McGuire, A. L., Burke, W.
(2008). An Unwelcome Side Effect of Direct-to-Consumer Personal Genome Testing: Raiding the Medical Commons. JAMA
300: 2669-2671
[Full Text]
Meigs, J. B., Shrader, P., Sullivan, L. M., McAteer, J. B., Fox, C. S., Dupuis, J., Manning, A. K., Florez, J. C., Wilson, P. W.F., D'Agostino, R. B. Sr., Cupples, L. A.
(2008). Genotype Score in Addition to Common Risk Factors for Prediction of Type 2 Diabetes. NEJM
359: 2208-2219
[Abstract][Full Text]
Henderson, G. E.
(2008). Introducing Social and Ethical Perspectives on Gene--Environment Research. Sociological Methods Research
37: 251-276
[Abstract]
Topol, E. J
(2008). Genome scanning and cardiovascular disease. Heart
94: 1361-1363
[Full Text]
Kaye, J.
(2008). The regulation of direct-to-consumer genetic tests. Hum Mol Genet
17: R180-R183
[Abstract][Full Text]
Fujimura, J. H., Duster, T., Rajagopalan, R.
(2008). Race, genetics, and disease: questions of evidence, matters of consequence.. Social Studies of Science
38: 643-656
[Abstract]
Weiss, K. M.
(2008). Tilting at Quixotic Trait Loci (QTL): An Evolutionary Perspective on Genetic Causation. Genetics
179: 1741-1756
[Abstract][Full Text]
Boulesteix, A.-L., Porzelius, C., Daumer, M.
(2008). Microarray-based classification and clinical predictors: on combined classifiers and additional predictive value. Bioinformatics
24: 1698-1706
[Abstract][Full Text]
Hall, F. M.
(2008). The Rise and Impending Decline of Screening Mammography. Radiology
247: 597-601
[Full Text]
Haga, S. B., Willard, H. F., Audeh, M. W., Hunter, D. J., Khoury, M. J., Drazen, J. M.
(2008). Letting the genome out of the bottle.. NEJM
358: 2184-2185
[Full Text]
Roth, S. M.
(2008). Last Word on Viewpoint: Perspective on the future use of genomics in exercise prescription. J. Appl. Physiol.
104: 1254-1254
[Full Text]
Feero, W. G., Guttmacher, A. E., Collins, F. S.
(2008). The Genome Gets Personal--Almost. JAMA
299: 1351-1352
[Full Text]