Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States

Archives of Pathology and Laboratory Medicine

Volumn 127, Issue 1, 2003, Pages 71-76

  McGovern, Margaret M ^a,c   Benach, Marta ^a   Wallenstein, Sylvan ^a   Boone, Joe ^b   Lubin, Ira M ^b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^c MOUNT SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONFIDENTIALITY; GENETIC ANALYSIS; HUMAN; INFORMED CONSENT; LABORATORY; MOLECULAR GENETICS; PATIENT RIGHT; PERSONNEL; QUALITY CONTROL; REVIEW; STANDARD; UNITED STATES;

GENETIC DISEASES, INBORN; GENETIC PRIVACY; GENETIC SCREENING; HUMANS; INFORMED CONSENT; LABORATORY PERSONNEL; LICENSURE; METABOLISM, INBORN ERRORS; QUALITY ASSURANCE, HEALTH CARE; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; TECHNOLOGY, MEDICAL; UNITED STATES;

EID: 0037286727     PISSN: 00039985     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (25)

1. Clayton PT. Applications of mass spectrometry in the study of inborn errors of metabolism. J Inherit Metab Dis. 2001;24:139-150.
2. Hommes FA, ed. Methods in Biochemical Genetics. New York, NY: John Wiley and Sons; 1991.
3. Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr. 2000;159(suppl 3):S192-S195.
4. Graham GW, Aitken DA, Connor JM. Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome. Prenat Diagn. 1996;16:647-651.
5. Mandell R, Packman S, Laframboise R, et al. Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. Prenat Diagn. 1996;16:419-424.
6. Rinaldo P, Studinski AL, Matern D. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation. Prenat Diagn. 2001;21:52-54.
7. Hommes FA, Blitzer MG, Brewster MA, et al. Proficiency testing for biochemical genetics laboratories: the first 10 rounds of testing. Am J Hum Genet. 1990;46:1001-1004.
8. Holtzman NA, Watson MS, eds. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Washington, DC: 1997. Available at: http://www.nhgri.nih.gov/ELSI/TFGT_final/.
9. SACGT documents page. Office of Biotechnology Activities Web site. Enhancing the oversight of genetic tests: recommendations of the SACGT. Available at: http/www4.od.nih.gov/oba/sacgt/gtdocuments.html.Accessed 2000.
10. Medicare, Medicaid and CLIA programs: regulations implementing the Clinical Laboratory Improvement Amendments of 1988 (CLIA), 57 Federal Register 7002 (1992).
11. Notice of intent. 65 Federal Register 87 (May 4, 2000), 25928-25934.
12. GeneTests directory Web site. Available at: http://www.genetests.org.
13. McGovern MM, Benach M, Wallenstein S, Desnick RJ, Keenlyside. Quality assurance in molecular genetic testing laboratories. JAMA. 1999;281:835-840.
14. ACMG Web site. Standards and guidelines: clinical genetics laboratories, The American College of Human Genetics Laboratory Practice Committee, 1993. Available at: http://www.acmg.net. Accessed October 1, 2002.
15. Code of Federal Regulations. 1995. Oct 1, 1995. 42 (Part 430 to end), §493.1443.
16. Guide to North American graduate and postgraduate training programs in human genetics. Available at: http://www.faseb.org/genetics/ashg/tpguide/tpg-menu.htm18.
17. O'Connell CD. A NIST workshop on standards for nucleic acid diagnostic applications. Available at: http://www.cstl.nist.gov/biotech.
18. The Secretary's Advisory Committee on Genetic Testing. Enhancing the oversight of genetic tests. Available at: http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.htm.
19. Centers for Disease Control and Prevention, Division of Laboratory Systems Web site. General recommendations for quality assurance programs for laboratory molecular genetic tests. Available at: http://www.phppo.cdc.gov/dls/genetics/default.asp. Accessed 1999.
20. Centers for Disease Control and Prevention, Division of Laboratory Systems Web site. Available at: http://www.phppo.cdc.gov/dls/genetic. Accessed October 1, 2002.
21. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(suppl 1):S4-S8.
22. Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis. 1990;13:321-324.
23. Fung ET, Wright GL Jr, Dalmasso EA. Proteomic strategies for biomarker identification: progress and challenges. Curr Opin Mol Ther. 2000;2:643-650.
24. Chambers G, Lawrie L, Cash P, Murray GI. Proteomics: a new approach to the study of disease. J Pathol. 2000;192:280-288.
25. Gygi SP, Aebersold R. Mass spectrometry and proteomics. Curr Opin Chem Biol. 2000;4:489-494.