Analytical laboratory results greatly influence medical diagnosis, about 70% of medical decisions are based on laboratory results. Quality assurance and quality control are designed to detect and correct errors in a laboratory’s analytical process to ensure both the reliability and accuracy of test results. Unreliable performance can result in misdiagnosis and delayed treatment. Furthermore, improved quality guarantees increased productivity at a lower cost. Quality assurance programmes include internal quality control, external quality assessment, proficiency surveillance and standardization. It is necessary to try to ensure compliance with the requirements of the standards at all levels of the process. The sources of these standards are the International Standards Organization (ISO), national standards bodies, guidelines from professional organisations, accreditation bodies and governmental regulations. Laboratory networks increase the performance of laboratories in support of diagnostic screening programme. It is essential that genetic laboratories of a network have procedures underpinned by a robust quality assurance system to minimize errors and to reassure the clinicians and the patients that international standards are being met. This article provides an overview of the bases of quality assurance and its importance in genetic tests and it reports the EBTNA quality assurance system which is a clear and simple system available for access to adequate standardization of a genetic laboratory’s network.
If the inline PDF is not rendering correctly, you can download the PDF file here.
1. Kroese M, Zimmern RL, Sanderson S. Genetic tests and their evaluation: can we answer the key questions? Genet Med. 2004;6(6):475-80.
2. Kaul KL, Sabatini LM, Tsongalis GJ, Caliendo AM, Olsen RJ et al. The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care. Acad Pathol. 2017;16:4.
3. Hallworth MJ. The “70% claim”: What is the evidence base? Ann Clin Biochem 2011;48:487-8.
4. Badrick T. Evidence-based laboratory medicine.Clin Biochem Rev. 2013;34(2):43-6.
5. Aakre KM, Langlois MR, Watine J, Barth JH, Baum H, et al. Critical review of laboratory investigations in clinical practice guidelines: proposals for the description of investigation. Clin Chem Lab Med. 2013; 51(6):1217-26.
6. Kirk CJ, Shult PA. Developing Laboratory Networks: A Practical Guide and Application Public Health Rep. 2010; 125(Suppl 2): 102-109.
7. Monach PA. Repeating tests: different roles in research studies and clinical medicine. Biomark Med. 2012 ;6(5):691-703.
8. Hawkins R. Managing the pre- and post-analytical phases of the total testing process. Ann Lab Med. 2012;32(1):5-16.
9. ISO 3534-1;3.14 “Statistics - Vocabulary and symbols part1: General statistics terms and terms used in probalility”.
10. Karkaousos P, Evangeloupos A. In InTech, Applications and Experiences of Quality Control. Shanghai: Springer; 2011. Quality control in clinical laboratories; pp. 321-360.
11. Endrullat C, Glökler J, Franke P, Frohme M Standardization and quality management in next-generation sequencing.. Appl Transl Genom. 2016;1;10:2-9.
12. Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, et al.College of American Pathologists’ laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med. 2015;139(4):481-93.
13. Badrick T. The quality control system. Clin Biochem Rev. 2008;29 Suppl 1:S67-70.
14. Westgard JO. Internal quality control: planning and implementation strategies. Ann Clin Biochem 2003;40:593-611.
15. External quality assessment of health laboratories: Report on a WHO Working Group,1981.
16. Cembrowski GS, Carey RN. Adding value to proficiency testing programs. Clin Chem 2000;46:7-8.
17. Berwouts S, Fanning K, Morris MA, Barton DE, Dequeker E. Quality assurance practices in Europe: a survey of molecular genetic testing laboratories. Eur J Hum Genet. 2012;20(11):1118-26.
18. Ezzelle J, Rodriguez-Chavez IR, Darden JM, Stirewalt M, Kunwar N, et al. Guidelines on good clinical laboratory practice: bridging operations between research and clinical research laboratories. Pharm Biomed Anal. 2008;46(1):18-29.
19. De la Salle B, Meijer P, Thomas A, Simundic AM. Special issue on External Quality Assessment in Laboratory Medicine - current challenges and future trends.Biochem Med. 2017;27(1):19-22.
20. Kristoffersson U, Schmidtke J, Cassiman JJ, Dequeker E. Quality management systems and accreditation; in Quality Issues in Clinical Genetics Services. Springer: New York, 2010.
21. International Organization for Standardization: ISO/IEC 17025 general requirements for the competence of testing and calibration laboratories, 2005.
22. Schneider F, Maurer C, Friedberg RC. International Organization for Standardization (ISO) 15189. Ann Lab Med. 2017;37(5):365-370.
23. Guzel O, Guner EI. ISO 15189 accreditation: Requirements for quality and competence of medical laboratories, experience of a laboratory I. Clin Biochem.2009;42(4-5):274-8.
24. Berwouts S, Morris MA, Dequeker E. Approaches to quality management and accreditation in a genetic testing laboratory. Eur J Hum Genet. 2010;18 Suppl 1:S1-19.
25. R. Selvakumar. Good Laboratory Practices Indian J Clin Biochem. 2010; 25(3): 221-224.
26. Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, et al. A standardized framework for the validation and verification of clinical molecular genetic tests.; Eur J Hum Genet. 2010;18(12):1276-88.
27. Cassiman JJ. Research network: EuroGentest - a European Network of Excellence aimed at harmonizing genetic testing services. Eur J Hum Genet. 2005;13:1103-1105.
28. Kalman LV, Datta V, Williams M, Zook JM, Salit ML, Han JY. Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships. Ann Lab Med. 2016;36(6):513-20.
29. Directive 98/79/EC of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices. Official J. L 331, 1-37 (1998).
30. Burnett D: A practical guide to accreditation in laboratory medicine, 2002.
31. Hwang SH, Jung SK, Kang SJ, Cha HS, Chung SH, Lee DH. Development of a document management system for the standardization of clinical laboratory documents. Ann Lab Med. 2013;33(6):441-8.
32. Westgard JO. Internal quality control: planning and implementation strategies. Ann Clin Biochem 2003;40:593-611.
33. Deming WE: Out of the crisis, 2000.
34. Ho B, Ho E. The most common nonconformities encountered during the assessments of medical laboratories in Hong Kong using ISO 15189 as accreditation criteria. Biochem Med. 2012;22(2):247-57.
35. European cooperation for Accreditation of Laboratories: EAL-G3 internal audits and management reviews for laboratories, 1996.
36. Balague N and Saarti J. Managing Your Library and Its Quality: The ISO 9001 Way. Oxford, UK: Chandos Publishing; 2011.
37. Gardner H. Changing minds: the art and science of changing our own and other people’s minds, 2006.
38. Walz SE. Education and training in laboratory medicine in the United States. JIFCC. 2013;24(1):1-3.
39. The Maputo Declaration on strengthening of laboratory systems. Brazzaville: WHO Regional Office for Africa; (htp://www.who.int/ diagnostics_laboratory/Maputo-Declaration_2008.pdf, accessed 20 June 2015). The Maputo Declaration on strengthening of laboratory systems. Brazzaville: WHO Regional Office for Africa;2008 (http://www.who.int/diagnostics_laboratory/Maputo-Declaration_2008.pdf, accessed 20 June 2015).
40. Joint WHO-CDC conference on health laboratory quality systems. Geneva: World Health Organization; 2008 (http://www.who.int/csr/ihr/lyon/report20080409.pdf?ua=1, accessed 6 August 2015).
41. Health 2020: the European policy for health and wellbeing [website]. Copenhagen: WHO Regional Office for Europe; htp://www.euro.who.int/en/health-topics/ health-policy/health-2020-the-european-policy-forhealth-and-well-being,accessed 6 August 2015).
42. Brown CS, Zwetyenga J, Berdieva M, Volkova T, Cojocaru R, et al. New policy-formulation methodology paves the way for sus tainable laboratory systems in Europe. Public Health Panorama. 2015;1(1):41-47.
43. Nkengasong JN, Nsubuga P, Nwanyanwu O, GershyDamet GM, RoscignoG, et al. Laboratory systems and services are critical in global health: time to end the neglect? Am J Clin Pathol. 2010;134(3):368-73.
44. Olmsted SS, Moore M, Meili RC, Duber HC, Wasserman J, et al. Strengthening laboratory systems in resource-limited settings. Am J Clin Pathol. 2010;134(3):374-80.
45. Goodfellow I, Reusken C, Koopmans M. Laboratory support during and after the Ebola virus endgame: towards a sustained laboratory infrastructure. Euro Surveill. 2015;20(12):21074.
46. Katz R, Sorrell EM, Kornblet SA, Fischer JE. Global health security agenda and the international health regulations: moving forward. Biosecur Bioterror. 2014;12(5):231-8.
47. Bruschi F, Dundar M, Gahan PB, Gartland K, Szente M, et al..Biotechnology worldwide and the ‘European Biotechnology Thematic Network’ Association (EBTNA).Curr Opin Biotechnol. 2011;22 Suppl 1:S7-14.
49. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Järvelä I. Identification of a variant associated with adult-type hypolactasia. Nat Genet. 2002 Feb;30(2):233-7. Epub 2002 Jan 14.
50. Mulcare CA, Weale ME, Jones AL, Connell B, Zeitlyn D, Tarekegn A, Swallow DM, Bradman N, Thomas MG. The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans. Am J Hum Genet. 2004 Jun;74(6):1102-10. Epub 2004 Apr 20.
51. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Buys CH. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet. 1995 Apr 15;345(8955):985-6.