Genetic Testing: The Appropriate Means for a Desired Goal?

Journal of Bioethical Inquiry

Volumn 3, Issue 3, 2006, Pages 167-177

  de Melo Martín, Inmaculada ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Genetic testing; Human suffering; Public health

Indexed keywords

EID: 57749195608     PISSN: 11767529     EISSN: 18724353     Source Type: Journal    
DOI: 10.1007/s11673-006-9015-4     Document Type: Article

References (65)

1. Amos, J., & Grody, W. (2004). Development and integration of molecular genetic tests into clinical practice: The US experience. Expert Review of Molecular Diagnosis, 4(4), 465–477. DOI: 10.1586/14737159.4.4.465
2. Ankeny, R. A. (2002). Reduction reconceptualized: Cystic fibrosis as a paradigm case for molecular medicine. In L. S. Parker & R. A. Ankeny (Eds.), Mutating concepts, evolving disciplines: Genetics, medicine and society (pp. 127–141). Dordrecht, The Netherlands: Kluwer.
3. Baldano, J. L., & Katsanis, N. (2002). Beyond Mendel: An evolving view of human genetic disease transmission. Nature Reviews. Genetics, 3(10), 779–789. DOI: 10.1038/nrg910
4. Bell, J. (2004). Predicting disease using genomics. Nature, 429(6990), 453–456. DOI: 10.1038/nature02624
5. Calderon-Margalit, R., & Paltiel, O. (2004). Prevention of breast cancer in women who carry BRCA1 or BRCA2 mutations: A critical review of the literature. International Journal of Cancer, 112(3), 357–364. DOI: 10.1002/ijc.20429
6. Collins, F. S., & McKusick, V. A. (2001). Implications of the human genome project for medical science. The Journal of the American Medical Association, 285, 540–544. DOI: 10.1001/jama.285.5.540
7. Cooper, R. S., & Psaty, B. M. (2003). Genomics and medicine: Distraction, incremental progress, or the dawn of a new age? Annals of Internal Medicine, 138, 576–580.
8. Cummings, M. (2003). Human heredity. Principles and issues, chapter 5 (5th edn.). Pacific Grove, CA: Brooks/Cole.
9. DeNavas-Walt, C., Proctor, D. B., & Mills, R. J. (2004). US Census Bureau, Current Population Reports, P60-226. Income, poverty, and health insurance coverage in the United States: 2003 (p. 14). Washington, DC: US Government Printing Office.
10. Dennis, C. (2003). Epigenetics and disease: Altered states. Nature, 421(6924), 686–689. DOI: 10.1038/421686a
11. Dipple, M., & McCabe, E. (2000). Modifier genes convert “simple” Mendelian disorders to complex traits. Molecular Genetics and Metabolism, 71(1–2), 43–50. DOI: 10.1006/mgme.2000.3052
12. Diver, C., & Cohen, J. (2001). Genophobia: What is wrong with genetic discrimination? University of Pennsylvania Law Review, 149(5), 1439–1482. DOI: 10.2307/3312965
13. Edlich, R. F., Winters, K. L., & Lin, K. Y. (2005). Breast cancer and ovarian cancer genetics. Journal of Long-Term Effects of Medicinal Implants, 15(5), 533–545. DOI: 10.1615/JLongTermEffMedImplants.v15.i5.60
14. Galton, D. J., & Ferns, G. A. (1999). Genetic markers to predict polygenic disease: A new problem for social genetics. Quekett Journal of Microscopy, 92(4), 223–232.
15. Glover, J. (1984). What sort of people should there be? New York, NY: Penguin.
16. Habermas, J. (2003). The future of human nature. Cambridge, UK: Polity.
17. Hicken, B., & Tucker, D. (2002). Impact of genetic risk feedback: Perceived risk and motivation for health protective behaviours. Psychology, Health and Medicine, 7, 25–36. DOI: 10.1080/13548500120101531
18. HRSA/ACMG (2006). Newborn screening: Toward a uniform screening panel and system. Retrieved February 28, from ftp://ftp.hrsa.gov/mchb/genetics/screeningnoappendices.pdf.
19. Hudson, K. L., Rothenburg, K. H., Andrews, L. B., Kahn, M. J. E., & Collins, F. S. (1995). Genetic discrimination and health insurance: An urgent need for reform. Science, 270(5235), 391–393. DOI: 10.1126/science.270.5235.391
20. Johnson, A. (2002). Genetics and health insurance. Denver, CO: NCSL.
21. Juengst, E. (1997). Can enhancement be distinguished from prevention in genetic medicine? Journal of Medicine and Philosophy, 22(2), 125–142.
22. Kaback, M. (2000). Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model. European Journal of Pediatrics, 159(Suppl. 3), S192–S195. DOI: 10.1007/PL00014401
23. Kass, L. R., & Wilson, J. Q. (1998). The ethics of human cloning. Washington, DC: The AEI.
24. Kerruish, N. J., & Robertson, S. P. (2005). Newborn screening: New developments, new dilemmas. Journal of Medical Ethics, 31, 393–398. DOI: 10.1136/jme.2004.008219
25. Khoury, M. J. (2003). Genetics and genomics in practice: The continuum from genetic disease to genetic information in health and disease. Genetics in Medicine, 5, 261–268. DOI: 10.1097/01.GIM.0000076977.90682.A5
26. Khoury, M. J., McCabe, L. L., & McCabe, E. R. (2003). Population screening in the age of genomic medicine. New England Journal of Medicine, 348, 50–58. DOI: 10.1056/NEJMra013182
27. Khoury, M. J., Yang, Q., Gwinn, M., Little, J., & Flanders, W. D. (2004). An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventions. Genetics in Medicine, 6, 38–47. DOI: 10.1097/01.GIM.0000105751.71430.79
28. Lawrence, W. F., Peshkin, B. N., Liang, W., Isaacs, C., Lerman, C., & Mandelblatt, J. S. (2001). Cost of genetic counseling and testing for BRCA1 and BRCA2 breast cancer susceptibility mutations. Cancer Epidemiology, Biomarkers & Prevention, 10(5), 475–481.
29. Marteau, T. M., & Lerman, C. (2001). Genetic risk and behavioural change. British Medical Journal, 322, 1056–1059. DOI: 10.1136/bmj.322.7293.1056
30. Mickle, J. E., & Cutting, G. R. (2000). Genotype-phenotype relationships in cystic fibrosis. Medical Clinics of North America, 84(3), 597–607. DOI: 10.1016/S0025-7125(05)70243-1
31. Moore, M. L. (2003). Preterm labor and birth: What have we learned in the past two decades? Journal of Obstetrics, Gynecologic, and Neonatal Nursing, 32(5), 638–649. DOI: 10.1177/0884217503257367
32. National Center for Health Statistics (2004). Health, United States, 2004 (p. 14). Hyattsville, MD: National Center for Health Statistics.
33. Nussbaum, M. C., & Sunstein, C. R. (Eds.) (1998). Clones and clones: Facts and fantasies about human cloning. New York, NY: W. W. Norton.
34. Paul, D. (1997). The history of newborn phenylketonuria screening in the U.S. Appendix 5. In N. A. Holtzman & M. S. Watson (Eds.), Promoting safe and effective genetic testing in the United States (pp. 137–159). Washington, DC: NIH-DOE Working Group on the Ethical, Legal, and Social Implications of Human Genome Research.
35. Pence, G. (1998). Who’s afraid of human cloning? Lanham, MD: Rowman and Littlefield.
36. Quinn, L. (2003). Behavior and biology: The prevention of type 2 diabetes. Journal of Cardiovascular Nursing, 18(1), 62–68.
37. Rewers, M., & Hamman, R. (1995). Risk factors for non-insulin-dependent diabetes. In M. I. Harris, C. C. Cowie, M. P. Stern, et al. (Eds.), Diabetes in America (2nd edn.) (pp. 179–220). Washington, DC: US Government Printing Office.
38. Rhodes, R. (1998). Genetic links, family ties, and social bonds: Rights and responsibilities in the face of genetic knowledge. Journal of Medicine and Philosophy, 23(1), 10–30. DOI: 10.1076/jmep.23.1.10.2594
39. Risch, N. (2002). Searching for genetic determinants in the new millennium. Nature, 405(6788), 847–856. DOI: 10.1038/35015718
40. Roche, P., & Annas, G. (2001). Protecting genetic privacy. Nature Reviews. Genetics, 2(5), 392–396 May. DOI: 10.1038/35072029
41. Rothstein, M. A., & Hoffman, S. (1999). Genetic testing, genetic medicine, and managed care. Wake Forest Law Review, 34(3), 849–888.
42. Schottenfeld, D., & Beebe-Dimmer, J. L. (2005). Advances in cancer epidemiology: Understanding causal mechanisms and the evidence for implementing interventions. Annual Review of Public Health, 26, 37–60. DOI: 10.1146/annurev.publhealth.26.021304.144402
43. Scriver, C. R., & Waters, P. J. (1999). Monogenic traits are not simple. Lessons from phenylketonuria. Trends in Genetics, 15(7), 267–272. DOI: 10.1016/S0168-9525(99)01761-8
44. Senior, V., Marteau, T. M., & Peters, T. J. (1999). Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents’ responses to neonatal screening for familial hypercholesterolaemia. Social Science & Medicine, 48, 1857–1860. DOI: 10.1016/S0277-9536(99)00099-4
45. Stuhrmann, M., Graf, N., Dork, T., & Schmidtke, J. (2000). Mutation screening for prenatal and presymptomatic diagnosis: Cystic fibrosis and haemochromatosis. European Journal of Pediatrics, 159(Suppl 3), S186–S191. DOI: 10.1007/PL00014400
46. Subramanian, G., Adams, M. D., Venter, J. C., & Broder, S. (2001). Implications of the human genome for understanding human biology and medicine. The Journal of the American Medical Association, 286, 2296–2307. DOI: 10.1001/jama.286.18.2296
47. Thompson, L. A., Goodman, D. C., & Little, G. A. (2002). Is more neonatal intensive care always better? Insights from a cross-national comparison of reproductive care. Pediatrics, 109(6), 1036–1043. DOI: 10.1542/peds.109.6.1036
48. US Department of Commerce, Economics and Statistics Administration (2003). U.S. Census Bureau, Health insurance coverage in the United States: 2002 (pp. 1–4). Washington, DC: US Census Bureau.
49. US Department of Labor, Bureau of Labor Statistics, News, Bureau of Labor Statistics (2005). The employment situation (p. 2.). Washington, DC: BLS, January 2005.
50. US National Bioethics Advisory Commission (1997). Cloning human beings: Report and recommendations of the National Bioethics Advisory Commission. Rockville, MD: The Commission.
51. US National Library of Medicine, National Institutes of Health (2004). Genetics home reference. Bethesda, MD.
52. Veneis, P., Schulte, P., & McMichael, A. J. (2001). Misconceptions about the use of genetic tests in populations. Lancet, 357(9257), 709–712. DOI: 10.1016/S0140-6736(00)04136-2
53. Wald, N. J., Hackshaw, A. K., & Frost, C. D. (1999). When can a risk factor be used as a worthwhile screening test? British Medical Journal, 319, 1562–1565.
54. Walters, L., & Palmer, J. G. (1997). The ethics of human gene therapy. New York: Oxford University Press.
55. Wayne, D. H., Katherine, I. M., & Jayne, C. L. (2004). The prediction of disease risk in genomic medicine. EMBO Reports, 5(Suppl 1), S22–S26.
56. Weiss, K., & Buchanan, A. (2003). Evolution by phenotype: A biomedical perspective. Perspectives in Biology and Medicine, 46(2), 159–182.
57. Wilfond, B. S., Parad, R. B., & Fost, N. (2005). Balancing benefits and risks for cystic fibrosis newborn screening: Implications for policy decisions. Journal of Pediatrics, 147(3 Suppl), S109–S113.
58. Wilkie, A. (2001). Genetic prediction: What are the limits? Studies in History and Philosophy of Biological and Biomedical Sciences, 32(4), 619–633. DOI: 10.1016/S1369-8486(01)00028-0
59. Wing, R. R., Goldstein, M. G., Acton, K. J., Birch, L. L., Jakicic, J. M., Sallis, J. F., et al. (2001). Behavioral science research in diabetes: Lifestyle changes related to obesity, eating behavior, and physical activity. Diabetes Care, 24(1), 117–123.
60. World Health Organization (2002). Genomics and world health: Report of the Advisory Committee on Health Research. Geneva, Switzerland: World Health Organization.
61. World Health Organization (2002). The world health report 2002. Reducing risks, promoting healthy life. Geneva: WHO.
62. World Health Organization (2003). Genomics and world health: Report of the Advisory Committee on Health Research. Geneva, Switzerland: WHO.
63. World Health Organization (2003). The world health report 2003 – Shaping the future. Geneva: WHO.
64. World Health Organization (2005). The world health report 2005. Make every mother and child count. Geneva: WHO.
65. Wright, A. J., Weinman, J., & Marteau, T. M. (2003). The impact of learning of a genetic predisposition to nicotine dependence: An analogue study. Tobacco Control, 12(2), 227–230. DOI: 10.1136/tc.12.2.227