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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 and Genetic Tests

Although Congress was quite clear in the purpose and requirements of CLIA, HHS’s implementation of CLIA for genetic testing has been inadequate. Genetic tests are considered high-complexity tests, but no specialty or subspecialty for molecular or biochemical genetics has been established. Thus, there are no specific personnel, quality control, or proficiency-testing requirements for the vast majority of genetic tests. The regulations do include a subspecialty of clinical cytogenetics under the cytology specialty, and establish requirements related to cytogenetics-testing quality control. However, clinical cytogenetics is limited to chromosomal analysis and does not include molecular or biochemical genetic testing. A limited number of proficiency-testing programs exist for molecular and biochemical tests, but enrollment in these programs is not mandated under CLIA. Nor is information about an individual genetic testing laboratory’s performance on proficiency testing accessible to the public.

In the absence of a genetic testing specialty for molecular and biochemical genetic testing, laboratories can choose to enroll in other specialties but are not required to. According to results from a recent survey conducted by the Genetics and Public Policy Center, 16 percent of genetic testing laboratories have no specialty certification at all, including a third of high-volume genetic testing laboratories. Among molecular and biochemical genetic testing laboratories with specialty certification, the most common are pathology, chemistry, and clinical cytogenetics (23). However, these specialties have little applicability to a laboratory’s proficiency in performing genetic tests. No proficiency-testing programs are mandated for pathology or clinical cytogenetics under current regulations. Moreover, the proficiency-testing programs for chemistry address analytes such as glucose, cholesterol, potassium, and sodium – analytes that are not relevant to assessing proficiency in genetic testing.

Thus in significant ways genetic testing has been left out of CLIA implementation. This situation persists despite the fact that several federal advisory groups have recommended that CMS establish a genetic testing specialty under CLIA (9-11, 53). In 1997, the National Institutes of Health - Department of Energy Task Force on Genetic Testing determined that, in the absence of a genetic testing specialty, “there is no assurance that every laboratory performing genetic tests for clinical purposes meets high standards.”(9) In addition to recommending that a specialty be established, the Task Force also recommended that proficiency testing be mandated for all laboratories doing genetic testing and that a list of laboratories performing genetic tests satisfactorily be made public. In 2000, the Secretary’s Advisory Committee on Genetic Testing (SACGT), which succeeded the Task Force, similarly recommended that CLIA regulations be augmented with specific provisions for laboratories conducting genetic tests (10).

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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).
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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).
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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).
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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.
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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.
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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)
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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.
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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.
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