Am J Epidemiol 2002; 156:311-318.
Copyright © 2002 by the
Johns Hopkins Bloomberg School of Public Health
HUMAN GENOME EPIDEMIOLOGY |
Genetic Test Evaluation: Information Needs of Clinicians, Policy Makers, and the Public
1 University of Washington, Seattle, WA.
2 Agency for Healthcare Research and Quality, Bethesda, MD.
3 Centers for Disease Control and Prevention, Atlanta, GA.
4 National Human Genome Research Institute, Bethesda, MD.
5 Foundation for Blood Research, Scarborough, ME.
6 New England Medical Center, Boston, MA.
7 Oregon Health Sciences University, Portland, OR.
8 Baylor College of Medicine, Houston, TX.
9 National Cancer Institute, Bethesda, MD.
10 Case Western Reserve University, Cleveland, OH.
Growing knowledge about gene-disease associations will lead to new opportunities for genetic testing. Many experts predict that genetic testing will become increasingly important as a guide to prevention, clinical management, and drug treatment based on genetic susceptibilities. As part of a Human Genetic Epidemiology workshop convened by the Centers for Disease Control and Prevention, a group of experts evaluated the evidence needed when considering the appropriate use of new genetic tests. Because new tests are likely to vary in their predictive value, their potential to direct prevention or treatment efforts, and their personal and social consequences, the task of determining appropriate use will require careful consideration of a variety of factors, including the analytic validity, clinical validity, clinical utility, and ethical, legal, and social implications of the test. Standardized formats are needed to summarize what is known and not known about new genetic tests with respect to each of these features. Following criteria for the objective assessment of test properties, reports should be structured to enable policy makers, clinicians, and the public to identify the available evidence, so that uncertainties can be taken into account when considering test use and planning future research.
factor V; genetic markers; genetic predisposition to disease; genetic screening; genetics; phenylketonurias
Abbreviations: Abbreviations: HNPCC, hereditary nonpolyposis colorectal cancer; HuGE, Human Genome Epidemiology.
CiteULike 
Connotea 
Del.icio.us What's this?
Related articles in Am. J. Epidemiol.:
- Commentary: Epidemiology and the Continuum from Genetic Research to Genetic Testing
- Muin J. Khoury
Am. J. Epidemiol. 2002 156: 297-299.[Extract] [FREE Full Text] - Reporting, Appraising, and Integrating Data on Genotype Prevalence and Gene-Disease Associations
- Julian Little, Linda Bradley, Molly S. Bray, Mindy Clyne, Janice Dorman, Darrell L. Ellsworth, James Hanson, Muin Khoury, Joseph Lau, Thomas R. O’Brien, Nat Rothman, Donna Stroup, Emanuela Taioli, Duncan Thomas, Harri Vainio, Sholom Wacholder, and Clarice Weinberg
Am. J. Epidemiol. 2002 156: 300-310.[Abstract] [FREE Full Text]
This article has been cited by other articles:
|
|
 |
|
  B. Wilfond and L. F. Ross From Genetics to Genomics: Ethics, Policy, and Parental Decision-making J. Pediatr. Psychol., July 1, 2009; 34(6): 639 - 647. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. A. Hindorff, W. Burke, A.-M. Laberge, K. M. Rice, T. Lumley, K. Leppig, F. R. Rosendaal, E. B. Larson, and B. M. Psaty Motivating Factors for Physician Ordering of Factor V Leiden Genetic Tests Arch Intern Med, January 12, 2009; 169(1): 68 - 74. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Manamperi Current Developments in Genomics and Personalized Health Care: Impact on Public Health Asia Pac J Public Health, July 1, 2008; 20(3): 242 - 250. [Abstract] [PDF]
|
|
|
|
 |
|
 B. S. Wilfond and K. J. Carpenter Incidental findings in pediatric research. J. Law Med. Ethics, June 1, 2008; 36(2): 332 - 340. [PDF]
|
|
|
|
 |
|
 S. C. Sanderson, S. E. Humphries, C. Hubbart, E. Hughes, M. J. Jarvis, and J. Wardle Psychological and Behavioural Impact of Genetic Testing Smokers for Lung Cancer Risk: A Phase II Exploratory Trial J Health Psychol, May 1, 2008; 13(4): 481 - 494. [Abstract] [PDF]
|
|
|
|
 |
|
 T. L. Cheng, R. D. Cohn, and G. J. Dover The Genetics Revolution and Primary Care Pediatrics JAMA, January 30, 2008; 299(4): 451 - 453. [Full Text] [PDF]
|
|
|
|
 |
|
 R. L. Zimmern and M. Kroese The evaluation of genetic tests J. Public Health Med., September 1, 2007; 29(3): 246 - 250. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. S. Green, S. M. Dolan, and T. H. Murray Newborn Screening: Complexities in Universal Genetic Testing Am J Public Health, November 1, 2006; 96(11): 1955 - 1959. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. C. Sanderson and J. Wardle Will Genetic Testing for Complex Diseases Increase Motivation to Quit Smoking? Anticipated Reactions in a Survey of Smokers Health Educ Behav, October 1, 2005; 32(5): 640 - 653. [Abstract] [PDF]
|
|
|
|
 |
|
 J. R. Botkin Research for Newborn Screening: Developing a National Framework Pediatrics, October 1, 2005; 116(4): 862 - 871. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. P. Ojha and R. Thertulien Health Care Policy Issues as a Result of the Genetic Revolution: Implications for Public Health Am J Public Health, March 1, 2005; 95(3): 385 - 388. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. F. Meschia, T. G. Brott, and R. D. Brown Jr Genetics of Cerebrovascular Disorders Mayo Clin. Proc., January 1, 2005; 80(1): 122 - 132. [Abstract] [PDF]
|
|
|
|
 |
|
 J. L Halliday, V. R Collins, M. A. Aitken, M. P M Richards, and C. A Olsson Genetics and public health--evolution, or revolution? J Epidemiol Community Health, November 1, 2004; 58(11): 894 - 899. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Offit, E. Groeger, S. Turner, E. A. Wadsworth, and M. A. Weiser The "Duty to Warn" a Patient's Family Members About Hereditary Disease Risks JAMA, September 22, 2004; 292(12): 1469 - 1473. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Shah Criteria influencing the clinical uptake of pharmacogenomic strategies BMJ, June 19, 2004; 328(7454): 1482 - 1486. [Full Text] [PDF]
|
|
|
|
|
|
C. L. Freund, E. W. Clayton, and B. S. Wilfond Natural Settings Trials Improving the Introduction of Clinical Genetic Tests J. Law Med. Ethics, March 1, 2004; 32(1): 106 - 110. [PDF]
|
|
|
|
 |
|
 J. Little, M. J. Khoury, L. Bradley, M. Clyne, M. Gwinn, B. Lin, M.-L. Lindegren, and P. Yoon The Human Genome Project Is Complete. How Do We Develop a Handle for the Pump? Am. J. Epidemiol., April 15, 2003; 157(8): 667 - 673. [Full Text] [PDF]
|
|
|
|
|
|
M. J. Khoury Commentary: Epidemiology and the Continuum from Genetic Research to Genetic Testing Am. J. Epidemiol., August 15, 2002; 156(4): 297 - 299. [Full Text] [PDF]
|
|