Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Feature
  • Published:

Oversight of US genetic testing laboratories

Despite the boom in genetic tests available in US laboratories, oversight remains patchy. A survey of laboratory directors suggests that mandatory proficiency testing would result in fewer errors.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Growth of genetic testing, including both clinical and research testing.

References

  1. Gene Tests. http://www.genetests.org/

  2. Kan, Y.K. et al. Polymorphism of DNA Sequence adjacent to human-globin structural gene: relationship to sickle mutation. Proc. Natl. Acad. Sci. USA 75, 5631–5365 (1978).

    Article  CAS  Google Scholar 

  3. Frost & Sullivan, U.S. Genetic Diagnostics Markets, F463–552 (2005).

  4. United States Code, Title 42, Section 263(a).

  5. Hofgartner, W.T. & Tait, J.T. Frequency of problems during clinical molecular genetic testing. Am. J. Clin. Pathol. 112, 14–21 (1999).

    Article  CAS  Google Scholar 

  6. McGovern, M.M. et al. Quality assurance in molecular genetic testing laboratories. J. Am. Med. Assoc. 281, 835–840 (1999).

    Article  CAS  Google Scholar 

  7. Bonini P. et al. Errors in laboratory medicine. Clin Chem., 48, 691–698 (2002).

    Article  CAS  Google Scholar 

  8. Witte, D.L. et al. Errors, mistakes blunders, outliers, or unacceptable results: how many? Clin. Chem. 43, 1352–1356 (1997).

    Article  CAS  Google Scholar 

  9. Howanitz, P.J. Errors in laboratory medicine: practical lessons to improve patient safety. Arch. Pathol. Med. 129, 1252–1261 (2005).

    Article  Google Scholar 

  10. Hollensead, S.C. et al. Errors in pathology and laboratory medicine: consequences and prevention. J. Surg. Oncol. 88, 161–181 (2004).

    Article  Google Scholar 

  11. Federal Register, vol. 65, p. 25,928, May 4, 2000.

  12. Federal Register, vol. 71, p. 22,595, April 24, 2006.

  13. H.R. Rep. No. 100–899 (1988).

  14. At Home DNA Tests: Marketing Scam or Medical Breakthrough? (Testimony of Thomas Hamilton, Director, Survey and Certification Group, Centers for Medicare and Medicaid Services) Before the Senate Special Committee on Aging, 109th Cong. (2006).

  15. Association for Molecular Pathology (AMP). Membership Directory (AMP. Rockville, MD, 2005).

  16. New York State Department of Health. Database of clinical laboratories currently holding a New York State Department of Health permit in the specified category of testing (2005). Genetic testing/biochemistry. http://www.wadsworth.org/labcert/clep/CategoryPermitLinks/CategoryListing.

  17. New York State Department of Health. Database of clinical laboratories currently holding a New York State Department of Health permit in the specified category of testing (2005). Genetic testing/molecular. http://www.wadsworth.org/labcert/clep/CategoryPermitLinks/CategoryListing.htm

  18. National Tay Sachs and Allied Diseases Association. 2005 Directory: NTSAD Quality Control Program Participating Laboratories (2005). http://www.ntsad.org/pages%5Cqclabs2005.htm

  19. Canavan Foundation. Canavan Foundation Directory of Testing Centers (2005). http://www.canavanfoundation.org/screening.php

  20. Washington G-2 Reports. Lab Outreach Buyer's Guide: Providers of Laboratory Outreach Products and Services (Washington G-2 Publications, New York, 2005).

  21. U.S. Department of Veteran's Affairs. Facilities Locator and Directory (2005). http://www1.va.gov/directory/guide/rpt_fac_list.cfm

  22. American Association for Public Opinion Research. Standard Definitions: Final Dispositions of Case Codes and Outcome Rates for Surveys. ed. 4. (AAPOR Lenexa, Kansas, 2006).

Download references

Acknowledgements

The Genetics and Public Policy Center is supported at Johns Hopkins University by The Pew Charitable Trusts. The opinions expressed in this report are those of the authors and do not necessarily reflect the views of The Pew Charitable Trusts. The authors are grateful to Linda Bradley, Michele Caggana, Wayne Grody and Michele Schoonmaker for their helpful review of an earlier draft of this manuscript, and to GeneTests for providing their Clinic Directory.

Author information

Authors and Affiliations

Authors

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hudson, K., Murphy, J., Kaufman, D. et al. Oversight of US genetic testing laboratories. Nat Biotechnol 24, 1083–1090 (2006). https://doi.org/10.1038/nbt0906-1083

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/nbt0906-1083

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing