Key Points
• Most clinical genetic tests in the US are laboratory developed tests and enter the market with limited oversight.
• The US distinguishes research testing from clinical testing and requires CLIA-certification for the release of patient specific results.
• The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) and the Collaboration, Education and Test Translation Program (CETT) are two US model programs to evaluate genetic tests.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Centers for Medicare and Medicaid Services Website. Clinical Laboratory Improvement Amendments (CLIA). See http://www.cms.hhs.gov/clia/
Gutman SI. FDA’s role in the regulation of in vitro diagnostics. Presentation May 10, 2003. http://www.fda.go/cdrh/olvd/presentations/o51003-gutman-1.html, 2003
Faucett WA, et al. A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program. Genet Med 2008; 10(5): 343–348.
Genetics and Public Policy Center. Survey of Direct-to-Consumer Testing Statutes and Regulations, http://www.DNAPolicy.org/resources/DTCStateLawChart.pdf, 2007, June.
Greenstein RM, et al. American College of Medical Genetics (ACMG), Manual on Reimbursement for Medical Genetic Services. http://www.acmg.net, 2001
Grody WW, Richards S. New quality assurance standards for rare disease testing. Genet Med 2008; 10(5): 320–324.
Haddow JE, Palomaki GE. ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury M, Little J, Burke W (eds.). Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. New York: Oxford University Press, 2003: 217–233.
Hudson KL, et al. Oversight of US genetic testing laboratories. Nature Biotechnol 2006; 24: 1083–1090.
Informed Medical Decisions Website. Aetna to Offer Access to Confidential Telephonic Cancer Genetic Counseling to Health Plan Members. http://www.informedmedicaldecisions.com/press_releases.html
Korf BR, Ledbetter D, Murray MF. Report of Banbury Summit meeting on the evolving role of the medical geneticist. Genet Med 2008; 10(7): 502–507.
Ledbetter DH, Faucett WA. Issues in genetic testing for ultra-rare diseases: background and introduction. Genet Med 2008; 10(5): 309–313.
Medicaid, http://www.cms.hhs.gov/MedicaidGenInfo/
Medicare, http://www.cms.hhs.gov/MedicareGenInfo/
New York State Department of Health. Clinical Laboratory Evaluation Program. http://www.wadsworth.org/labcert/clep/clep.html
Richards CS, et al. Molecular subcommittee of ACMG laboratory quality assurance committee. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008; 10(4): 294–300.
Sanderson S, et al. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetics tests in the United Kingdom. Genet Med 2005; 7(7): 495–500.
Secretary’s Advisory Committee on Genetics, Health and Society. US System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services. http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_oversight_report.pdf, 2008, April
Teutsch SM, et al. The Evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP Working Group. Genet Med 2009; 11(1): 3–14.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer Science+Business Media B.V.
About this chapter
Cite this chapter
Faucett, W.A. (2010). Clinical Genetic Testing and Services – The US Perspective. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_11
Download citation
DOI: https://doi.org/10.1007/978-90-481-3919-4_11
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-90-481-3918-7
Online ISBN: 978-90-481-3919-4
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)