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Public Health at Risk
Failures in Oversight of Genetic Testing Laboratories


Quick Summary

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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Introduction

The Clinical Laboratories Improvement Amendments of 1988 (CLIA) (1) is a littleheralded statute with an important mission. Congress enacted the law out of concern over the poor quality of services being offered by clinical laboratories. Congress wanted to make sure that the millions of tests performed on patients every year provided accurate and reliable results.

Authority for implementing CLIA was delegated to the Centers for Medicare and Medicaid Services (CMS). Thus, while much better-known for its role in administering the Medicare and Medicaid programs, CMS also is responsible for monitoring the quality of nearly 200,000 clinical laboratories in the United States (2), which together perform more than 10 billion tests each year (3).

At the time CLIA was enacted, few human genes had been identified and genetic testing was a nascent field largely confined to esoteric research laboratories or prenatal testing for chromosomal disorders. Not surprisingly, in implementing CLIA CMS focused first on those testing areas that were mature and most in need of strengthened oversight. As a result, CLIA has improved the overall quality of clinical laboratory testing in the United States.

However, in the 18 years since CLIA was enacted and with the completion of the Human Genome Project, genetic testing has moved from the sidelines into mainstream medicine (4). Today there are about 1000 diseases for which genetic tests are available clinically, and several hundreds more are available in a research setting (5) (Figure 1). While initial research focused on rare diseases caused by a mutation in a single gene, more recent research has focused on the identification of genetic contributions to complex, multifactorial conditions such as cancer, diabetes, and heart disease (6, 7).

Figure 1: Growth of Genetic Testing 

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Table of Contents
 

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).
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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.
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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).
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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.
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