Clinical validity and clinical utility of genetic tests

Current Protocols in Human Genetics

Volumn , Issue SUPPL. 60, 2009, Pages

  Burke, Wlyie ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Clinical utility; Clinical validity; Penetrance; Predictive value

Indexed keywords

DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; GENETIC ANALYSIS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; HUMAN; OUTCOMES RESEARCH; PENETRANCE; PREDICTION; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; RISK BENEFIT ANALYSIS; SENSITIVITY AND SPECIFICITY; VALIDITY;

GENETIC DISEASES, INBORN; GENETIC SCREENING; GENETICS, MEDICAL; HUMANS; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS;

EID: 59749100731     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg0915s60     Document Type: Review

References (26)

1. Abboud, R.T., Ford, G.T., and Chapman, K.R. Standards Committee of the Canadian Thoracic Society. 2001. α1-antitrypsin deficiency: A position statement of the Canadian Thoracic Society. Can. Respir. J. 8:81-8.
2. Allen, K.J., Gurrin, L.C., Constantine, C.C., Osborne, N.J., Delatycki, M.B., Nicoll, A.J., McLaren, C.E., Bahlo, M., Nisselle, A.E., Vulpe, C.D., Anderson, G.J., Southey, M.C., Giles, G.G., English, D.R., Hopper, J.L., Olynyk, J.K., Powell, L.W., and Gertig, D.M. 2008. Iron-overload-related disease in HFE hereditary hemochromatosis. N. Engl. J. Med. 358:221-230.
3. Altshuler, D. and Daly, M. 2007. Guilt beyond a reasonable doubt. Nat. Genet. 39:813-815.
4. Asberg, A., Hveem, K., Kannelønning, K., and Irgens, W.Ø. 2007. Penetrance of the C28Y/C282Y genotype of the HFE gene. Scand. J. Gastroentero. 42:1073-1077.
5. Ashley-Koch, A., Yang, Q., and Olney, R.S. 2000. Sickle hemoglobin (Hb S) allele and sickle cell disease. Am. J. Epidemiol. 151:839-845.
6. Begg, C.B. 2002. On the use of familial aggregation in population-based case probands for calculating penetrance. J. Natl. Cancer Inst. 94:1221-1226.
7. Beutler, E. Iron storage disease: Facts, fiction and progress. 2007. Blood Cells Mol. Dis. 39:140-147.
8. Billings, P.R., Kohn, M.A., de Cuevas, M., Beckwith, J., Alper, J.S., and Natowicz, M.R. 1992. Discrimination as a consequence of genetic testing. Am. J. Hum. Genet. 50:476-482.
9. Brandi, M.L., Gagel, R.F., Angeli, A., Bilezekian, J.P., Beck-Peccoz, P., Bordi, C., Conte-Devolx, B., Falchetti, A., Gheri, R.G., Libroia, A., Lips, C.J., Lombardi, C., Mannelli, M., Pacini, F., Pnder, B.A., Raue, F., Skogseid, B., Tamburrano, G., Thakker, R.V., Thompson, N.W., Tomassetti, P., Tonelli, F., Wells, S.A. Jr., and Mar, S.J. 2001. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab. 86:5658-5671.
10. Burke, W. and Austin, M.A. 2002. Genetic risk in context: Calculating the penetrance of BRCA1 and BRCA2 mutations. J. Natl. Cancer Inst. 94:1185-1187.
11. Burke, W. and Psaty, B.M. 2007. Personalized medicine in the era of genomics. JAMA 298:1682-4.
12. Burke, W., Atkins, D., Gwinn, M., Guttmacher, A., Haddow, J., Lau, J., Palomaki, G., Press, N., Richards, C.S., Wideroff, L., and Wiesner, G.L. 2002. Genetic test evaluation: Information needs of clinicians, policy-makers and the public. Am. J. Epidemiol. 156:311-318.
13. Ford, D., Easton, D.F., Bishop, D.T., Narod, S.A., and Goldgar, D.E. 1994. Risks of cancer in BRCA1-mutation carriers: Breast Cancer Linkage Consortium. Lancet 343:692-695.
14. Hampton, T. 2008. Congress passes bill to ban discrimination based on individuals' genetic makeup. JAMA 299:2493.
15. Hansen, E., Imperatore, P., and Burke, W. 2001. HFE gene and hemochromatosis: A HuGE review. Am. J. Epidemiol. 154:193-206.
16. Holtzman, N.A. and Watson, M.S. 1999. Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing. Johns Hopkins University Press, Baltimore.
17. Humphries, S., Ridker, P.M., and Talmud, P.J. 2004. Genetic testing for cardiovascular disease susceptibility: Auseful clinical management tool or possible misinformation. Arteroscler. Thromb. Vasc. Biol. 24:1-9.
18. Jarvinen, H.J., Aarnio, M., Mustonene, H., Aktan-Collan, K., Aaltonen, L.A., Peltomaki, P., De La Chapelle, A., and Mecklin, J.P. 2000. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterol. 118:829-834.
19. Lapham, E.V., Kozma, C., and Weiss, J.O. 1996. Genetic discrimination: Perspectives of consumers. Science 274:621-624.
20. Lebo, R.V. and Grody, W.W. 2007. Testing and reporting ACMG cystic fibrosis mutation panel results. Genet. Test. 11:11-31.
21. Levy-Lahad, E. and Friedman, E. 2007. Cancer risks among BRCA1 and BRCA2 mutation carriers. Br. J. Cancer 96:11-15.
22. Nebert, D.W., Zhang, G., and Vesell, E.S. 2008. From human genetics and genomics to pharmacogenetics and pharmacogenomics: Past lessons, future directions. Drug Metab. Rev. 40:187-224.
23. U.S. Preventive Services Task Force. 2006. Screening for hemochromatosis: Recommendation statement. Ann. Intern. Med. 145:204-208.
24. Wilken, B. 2001. Rare disease and the assessment of intervention: What sorts of clinical trials can we use? J. Inherit Metabol. Dis. 24:291-298.
25. Woolf, S.H. 2000. Evidence-based medicine and practice guidelines: An overview. Cancer Control 7:362-367.
26. World Health Organization (WHO). 1997. α1-Antitypsin deficiency: Memorandum from a WHOmeeting. Bull.World Health Org. 75:397-415.