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Public Health at Risk
Failures in Oversight of Genetic Testing Laboratories


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The Human Genome Project unleashed a torrent of information about the human genome and the role of genetic variation in human health. As a result, genetic testing is now among the fastest growing areas of laboratory medicine. Today, genetic tests for about 1000 diseases are clinically available, with hundreds more available in a research setting.

Public Health at Risk
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CLIA: Intent and Implementation

The federal government, through the Department of Health and Human Services (HHS), has been engaged in clinical laboratory oversight for nearly 50 years. Congress enacted the Clinical Laboratories Improvement Act of 1967 in response to reports of high error rates in laboratory testing (16). But the Act was limited in scope, and during the early 1980s Congress again became concerned about laboratory quality. In particular, Congressional hearings revealed that high numbers of false negative results were being reported by laboratories performing Pap smears to screen women for cervical cancer (17). Women with abnormal, possibly cancerous, cells were being incorrectly informed that their Pap smears were normal, leading to needless illness and death.

Congress enacted the Clinical Laboratory Improvement Amendments of 1988, referred to as CLIA, in order to address deficiencies in the original law, and to “strengthen federal oversight of clinical laboratories to assure that the tests results are accurate and reliable.”(17) Congress found that laboratory testing played a critical role in the delivery of health services and in maintaining good health, and that patients both “expect such testing to be done properly” and “assume, quite reasonably, that their interests and the public health are being protected by appropriate government agencies.”(17)

Among the problems uncovered by Congress were a “seriously flawed system” for ensuring laboratory compliance and an “ineffective proficiency-testing system for evaluating the performance of laboratories.” With respect to compliance, Congress found that the government’s reliance on private accrediting bodies had created weaknesses in the administration of quality standards, noting that while the government had delegated enforcement to these entities, “these bodies have made plain their preference and capacity is for education, not enforcement.”(17)

Congress noted that proficiency testing “should be the central element in determining a laboratory’s competence since it purports to measure actual test outcomes rather than merely gauging the potential for accurate outcomes.”(17) Proficiency testing requires a laboratory to demonstrate that it can obtain the correct answer when performing a test on a tissue sample; thus it serves as a “method of externally validating the level of a laboratory’s performance.”(17) But Congress identified serious defects including “lax federal oversight and direction, lack of proficiency testing for many analytes, inconsistent criteria for acceptable laboratory performance, and improprieties by laboratories in handling specimen samples.”(17) Congress intended CLIA to remedy these shortcomings through new, more rigorous laboratory standards (17).

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Date added:
Sep 18, 2006
Project:
Genetics and Public Policy Center
References:
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References:

1. Public Law 100-578 (1988), codified at U.S. Code, 42, § 263a.
2. U.S. Congress. Senate. Special Committee on Aging. At Home DNA Tests: Marketing Scam or Medical Breakthrough? 109th Cong., 2d sess., 2006 (Testimony of Thomas Hamilton).
3. 2005. How Reliable is Laboratory Testing? American Association for Clinical Chemistry. http://www.labtestsonline.org/understanding/features/reliability.html (accessed August 23, 2006).
4. 2003. International Consortium Completes Human Genome Project. NHGRI. http://www.genome.gov/11006929 (accessed August 23, 2006).
5. GeneTests. University of Washington. www.genetests.org (accessed August 23, 2006).
6. Guttmacher, A. E. and F. S. Collins. 2005. Realizing the promise of genomics in biomedical research.Journal of the American Medical Association 294 (11): 1399-402.
7. Guttmacher, A. E. and F. S. Collins. 2002. Genomic medicine - a primer. The New England Journal of Medicine 347 (19): 1512-20.
8. Marsh, S. and H. L. McLeod. 2006. Pharmacogenomics: From bedside to clinical practice. Human Molecular Genetics 15 (Review Issue 1): R89-R93.
9. Holtzman, Neil and Michael Watson, eds. 1997. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. NHGRI. http://www.genome.gov/10001733 (accessed August 23, 2006).
10. 2000. Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT. National Institutes of Health. http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf (accessed August 23, 2006).
11. Institute of Medicine. Assessing Genetic Risks: Implications for Health and Social Policy (Lori B. Andrews, Jane E. Fullarton, Neil A. Holtzman, Arno G. Matulsky, eds.). 1994.
12. Clinical Laboratory Improvement Advisory Committee Meeting Summary Reports February 7-8, 2001, January 30-12, 2002, September 11-12, 2002, September 17-18, 2003, February 11-12, 2004, September 22-23, 2004, February 16-17, 2005, September 7-8, 2005, and February 8-9, 2006. http://www.phppo.cdc.gov/dls/cliac/default.asp (accessed August 27, 2006).
13. Federal Register 65 (May 2000): 25928.
14. Federal Register 71 (April 2006): 22595.
15. Meeting between representatives of the Genetics and Public Policy Center and representatives of the Centers for Medicare and Medicaid Services, August 3, 2006.
16. Rivers P. A., et al. 2005. A review and analysis of the Clinical Laboratory Improvement Amendment of 1988: compliance plans and enforcement policy. Health Care Management Review 30 (2): 93-102.
17. House Committee on Energy and Commerce, Clinical Laboratory Improvement Amendments of 1988, 100th Cong., 2nd sess., 1988, H. Rep 100-899.
18. Code of Federal Regulations, title 42, sec. 493. References Public Health at Risk: Failures in Oversight of Genetic Testing Laboratories 21
19. Code of Federal Regulations, title 42, sec. 493.17.
20. Code of Federal Regulations, title 42, sec. 493.15.
21. Code of Federal Regulations, title 42, sec. 493.801.
22. Code of Federal Regulations, title 42, sec. 493.801(a)(2)(ii).
23. Hudson, K., et al. 2006. Oversight of U.S. genetic testing laboratories. Nature Biotechnology 24 (9): 1083-1090.
24. Murphy, Juli, Gail Javitt, and Kathy Hudson. 2005. Creating a Genetic Testing Specialty under CLIA: What are we waiting for? Genetics and Public Policy Center. http://www.dnapolicy.org/resources/McClellanpaper.pdf (accessed August 23, 2006).
25. Javitt, Gail pers. comm. to Judy Yost, July 15, 2005.
26. Yost, Judith pers. comm. to Gail Javitt, September 15, 2005.
27. Hudson, Kathy pers. comm. to Mark McClellan, November 18, 2005.
28. Hamilton, Thomas pers. comm. to Kathy Hudson, Jan. 9, 2006.
29. Testimony of Judith A. Yost, director, Division of Laboratory Services, Centers for Medicare and Medicaid Services, before the Secretary’s Advisory Committee on Genetics, Health, and Society, June 26, 2006.
30. 2006. Nutrigenetic Testing: Tests Purchased From Four Websites Mislead Consumers. United States Government Accountability Office. http://www.gao.gov/new.items/d06977t.pdf (accessed August 23, 2006).
31. Federal Register 68 (January 2003): 3639
32. 2006. Practices and Attitudes of Laboratory Directors of Clinical Genetic Testing Laboratories. Johns Hopkins IRB No. NA-00001533. Unpublished data on file with Genetics and Public Policy Center, Washington, D.C.
33. Terry, Sharon pers. comm. to Mark McClellan, February 28, 2006.
34. Smith, Dennis pers. comm. to Sharon Terry, July 17, 2006.
35. Schirmer v. Mt. Auburn Obstetrics and Gynecological Associates, 844 N.E.2d 1160 (2006).
36. Hood v. Lab. Corp. of Am., 2006 U.S. Dist. LEXIS 36464 (D.Md. 2006)
37. Libby, E. N., et al. 2006. False-negative factor v Leiden genetic testing in a patient with recurrent deep vein thrombosis. American Journal of Hematology 81: 284-289.
38. Our stories. Matthew Forbes Romer Foundation. http://www.mfrfoundation.org/stories.php (accessed August 29, 2006).
39. Feiger, J. 2003. Protecting patients while managing lab errors. Perspectives in Genetic Counseling. 25 (3): 4 22 Public Health at Risk: Failures in Oversight of Genetic Testing Laboratories
40. Hofgartner, W.T. and J.T. Tait. 1999. Frequency of problems during clinical molecular genetic testing. American Journal of Clinical Pathology 112: 14-21.
41. Bonini P. et al., 2002. Errors in laboratory medicine. Clinical Chemistry 48 (5): 691-698.
42. Witte, D. L. et al. 1997. Errors, mistakes, blunders, outliers, or unacceptable results: how many? Clinical Chemistry 43 (8): 1352-1356.
43. Howanitz, P. J. 2005. Errors in laboratory medicine: practical lessons to improve patient safety. Archives of Pathology & Laboratory Medicine 129: 1252-1261.
44. Hollensead, S. C., et al. 2004. Errors in pathology and laboratory medicine: consequences and prevention. Journal of Surgical Oncology 88: 161-181.
45. McGovern, M. M., et al. 1999. Quality assurance in molecular genetic testing laboratories. Journal of the American Medical Association 281 (9): 835-840.
46. 2006. Standards and Guidelines for Clinical Genetics Laboratories. American College of Medical Genetics. http://www.acmg.net/Pages/ACMG_Activities/stds-2002/stdsmenu-n.htm (accessed August 23, 2006).
47. Bachner, Paul, pers. comm. to Joe Boone, June 28, 2000.
48. Clinical Laboratory Improvement Advisory Committee Meeting Summary Report, September 10, 1997. http://www.phppo.cdc.gov/dls/cliac/default.asp (accessed August 30, 2006).
49. The Secretary’s Advisory Committee on Genetics, Health, and Society’s Summary of Third Meeting, March 1-2, 2004, pages 6-7 (public comments of Margaret Gulley, MD, College of American Pathologists). http://www4.od.nih.gov/oba/sacghs/meetings/March2004/SACGHS (accessed August 30, 2006).
50. Terry, Sharon, et al. pers. comm. to Mark McClellan, June 6, 2006.
51. Reproductive Health Technologies Project, et al. pers. comm. to Mark McClellan, July 13, 2006.
52. Frost and Sullivan, U.S. Genetic Diagnostics Markets, Market Report F463-52, 2005.
53. Meeting summaries of the Clinical Laboratory Improvement Advisory Committee. http://www.phppo.cdc.gov/dls/cliac/default.asp (accessed August 30, 2006).
54. Shalala, D. pers. comm. to Ed McCabe, January 19, 2001. http://www4.od.nih.gov/oba/sacgt/McCabe.pdf (accessed August 30, 2006).

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