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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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Genetic Testing Laboratory Errors

There is no formal system today for reporting and tracking laboratory errors. The lack of a formal reporting system makes it difficult to detect errors in laboratory testing, and to assess the frequency and consequences of such errors. To some extent, errors in laboratory testing, including genetic testing, are unavoidable, and the goal should be to implement systems designed to reduce errors to the extent feasible and to detect errors when they occur.

Ensuring that genetic testing is optimized to avoid error and that measures are available to detect substandard laboratory performance is of paramount importance. Equally important is providing healthcare providers and patients with sufficient information to assess the quality of genetic testing laboratories they rely on to provide critical healthcare information. Yet CMS has not provided a means for the public to access information about the quality of the laboratories it regulates, or even to determine whether a laboratory is CLIA certified. Although a few studies previously had examined the types of laboratory errors that occur in both genetic (40) and non-genetic testing (41-44) laboratories, or have investigated adherence to professional standards (45), no prior studies had surveyed the practices of genetic testing laboratories or assessed whether the creation of a genetic testing specialty could improve testing quality.

To collect empirical data on laboratory practices and director attitudes regarding oversight, the Genetics and Public Policy Center surveyed 190 directors of molecular and biochemical genetic testing laboratories in the United States (23, 32). The survey sought information about whether laboratories were CLIA certified, were certified in a specialty area, enrolled in formal proficiency-testing programs, engaged in informal proficiency testing when formal programs were not available, had experienced deficiencies in formal proficiency testing, or had reported incorrect test results. The survey also asked what types of errors were most frequently experienced by laboratories, and whether the laboratories complied with specific professional guidelines.

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

1. Public Law 100-578 (1988), codified at U.S. Code, 42, § 263a.
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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.
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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.
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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.
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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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