EPIDEMIOLOGY AND HEALTH DATA INSIGHTS
Original Article

Are Quality Control Practices in Molecular Genetics Laboratories Good Enough for Ovarian Cancer Diagnosis in Resource-Limited Settings? A Study from Kazakhstan

Epidemiology and Health Data Insights, 2(4), 2026, ehdi047, https://doi.org/10.63946/ehdi/18922
Publication date: Jul 05, 2026
Full Text (PDF)

ABSTRACT

Introduction: Ovarian cancer is a major cause of cancer death in women, mostly due to late detection. Quality control (QC) in molecular genetics laboratories is essential for accurate testing of BRCA1/2 and other mutations. This study evaluated QC practices in molecular genetics laboratories in Kazakhstan conducting ovarian cancer diagnostics in a resource-limited setting and compared them with international standards. Aim: To assess the quality control practices of molecular genetics laboratories involved in ovarian cancer diagnostics in Kazakhstan.
Methods: A descriptive cross-sectional study was conducted among 25 laboratory employees from three molecular genetics laboratories in Almaty, Kazakhstan. The questionnaire assessed internal quality control (IQC), external quality assessment (EQA) participation, SOP compliance, and operational challenges. Data were analysed using SPSS v.28. A systematic literature review based on PRISMA 2020 guidelines was also performed.
Results: Daily use of positive and negative controls was reported by 68% of respondents, while 52% performed daily DNA quality checks and 60% reported full SOP compliance. Equipment calibration was conducted weekly or monthly (44% each) rather than daily. Major challenges included sample contamination (56%), unreliable reagents (48%), and inadequate funding (68%). EQA participation was 76%. Respondents recommended improved training (52%), automation (36%), and better sample handling (32%). The review indicated that daily controls, high-depth NGS, and automation achieved 98–99% accuracy in BRCA1/2 testing.
Discussion: QC practices in Kazakh laboratories are reasonable but reveal gaps in calibration frequency, sample integrity, and resources. Daily calibration, affordable automation, local EQA programs, and staff training could improve diagnostic accuracy in resource-limited settings.

KEYWORDS

Ovarian Cancer Molecular Diagnostics Quality Control BRCA1/2 Resource-Limited Settings

CITATION (Vancouver)

Alhassan MO, Dushimova Z, Abraham EJ. Are Quality Control Practices in Molecular Genetics Laboratories Good Enough for Ovarian Cancer Diagnosis in Resource-Limited Settings? A Study from Kazakhstan. Epidemiology and Health Data Insights. 2026;2(4):ehdi047. https://doi.org/10.63946/ehdi/18922
APA
Alhassan, M. O., Dushimova, Z., & Abraham, E. J. (2026). Are Quality Control Practices in Molecular Genetics Laboratories Good Enough for Ovarian Cancer Diagnosis in Resource-Limited Settings? A Study from Kazakhstan. Epidemiology and Health Data Insights, 2(4), ehdi047. https://doi.org/10.63946/ehdi/18922
Harvard
Alhassan, M. O., Dushimova, Z., and Abraham, E. J. (2026). Are Quality Control Practices in Molecular Genetics Laboratories Good Enough for Ovarian Cancer Diagnosis in Resource-Limited Settings? A Study from Kazakhstan. Epidemiology and Health Data Insights, 2(4), ehdi047. https://doi.org/10.63946/ehdi/18922
AMA
Alhassan MO, Dushimova Z, Abraham EJ. Are Quality Control Practices in Molecular Genetics Laboratories Good Enough for Ovarian Cancer Diagnosis in Resource-Limited Settings? A Study from Kazakhstan. Epidemiology and Health Data Insights. 2026;2(4), ehdi047. https://doi.org/10.63946/ehdi/18922
Chicago
Alhassan, Moses Ojochegbe, Zaure Dushimova, and Esther Joshua Abraham. "Are Quality Control Practices in Molecular Genetics Laboratories Good Enough for Ovarian Cancer Diagnosis in Resource-Limited Settings? A Study from Kazakhstan". Epidemiology and Health Data Insights 2026 2 no. 4 (2026): ehdi047. https://doi.org/10.63946/ehdi/18922
MLA
Alhassan, Moses Ojochegbe et al. "Are Quality Control Practices in Molecular Genetics Laboratories Good Enough for Ovarian Cancer Diagnosis in Resource-Limited Settings? A Study from Kazakhstan". Epidemiology and Health Data Insights, vol. 2, no. 4, 2026, ehdi047. https://doi.org/10.63946/ehdi/18922

REFERENCES

  1. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, Bray F. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209-249. https://doi.org/10.3322/caac.21660
  2. Liberto JM, Chen SY, Shih IM, Wang TH, Wang TL, Pisanic TR II. Current and emerging methods for ovarian cancer screening and diagnostics: a comprehensive review. Cancers (Basel). 2022;14(12):2885. https://doi.org/10.3390/cancers14122885
  3. Hong MK, Ding DC. Early diagnosis of ovarian cancer: a comprehensive review of the advances, challenges, and future directions. Diagnostics (Basel). 2025;15(4):406. https://doi.org/10.3390/diagnostics15040406
  4. Charkhchi P, Cybulski C, Gronwald J, Wong FO, Narod SA, Akbari MR. CA125 and ovarian cancer: a comprehensive review. Cancers (Basel). 2020;12(12):3730. https://doi.org/10.3390/cancers12123730
  5. Matsas A, Stefanoudakis D, Troupis T, Kontzoglou K, Eleftheriades M, Christopoulos P, Panoskaltsis T, Stamoula E, Iliopoulos DC. Tumor markers and their diagnostic significance in ovarian cancer. Life (Basel). 2023;13(8):1689. https://doi.org/10.3390/life13081689
  6. Lord CJ, Ashworth A. PARP inhibitors: synthetic lethality in the clinic. Science. 2017;355(6330):1152-1158. https://doi.org/10.1126/science.aam7344
  7. Ghoreyshi N, Heidari R, Farhadi A, Chamanara M, Farahani N, Vahidi M, Behroozi J. Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions. Discov Oncol. 2025;16(1):578. https://doi.org/10.1007/s12672-025-01816-9
  8. Alix-Panabières C, Pantel K. Liquid biopsy: from discovery to clinical application. Cancer Discov. 2021;11(4):858-873. https://doi.org/10.1158/2159-8290.CD-20-1311
  9. Trevisi E, Sessa C, Colombo I. Clinical relevance of circulating tumor DNA in ovarian cancer: current issues and future opportunities. Explor Target Antitumor Ther. 2024;5:627-640. https://doi.org/10.37349/etat.2024.00239
  10. Bustin SA, Benes V, Garson JA, Hellemans J, Huggett J, Kubista M, Mueller R, Nolan T, Pfaffl MW, Shipley GL, Vandesompele J, Wittwer CT. The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem. 2009;55(4):611-622. https://doi.org/10.1373/clinchem.2008.112797
  11. Bustin SA. MIQE 2.0 and the urgent need to rethink qPCR standards. Int J Mol Sci. 2025;26(11):4975. https://doi.org/10.3390/ijms26114975
  12. Huggett JF, dMIQE Group. The digital MIQE guidelines update: minimum information for publication of quantitative digital PCR experiments for 2020. Clin Chem. 2020;66(8):1012-1029. https://doi.org/10.1093/clinchem/hvaa125
  13. Gruber L, Hausch A, Mueller T. Internal quality controls in the medical laboratory: a narrative review of the basic principles of an appropriate quality control plan. Diagnostics (Basel). 2024;14(19):2223. https://doi.org/10.3390/diagnostics14192223
  14. International Organization for Standardization. ISO 15189:2022 medical laboratories - requirements for quality and competence. Geneva: ISO; 2022.
  15. Ahmad-Nejad P, Ashavaid T, Vacaflores Salinas A, Huggett J, Harris K, Linder MW, Baluchova K, Steimer W, Payne DA. Current and future challenges in quality assurance in molecular diagnostics. Clin Chim Acta. 2021;519:239-246. https://doi.org/10.1016/j.cca.2021.05.004
  16. Chaudhry AS, Inata Y, Nakagami-Yamaguchi E. Quality analysis of the clinical laboratory literature and its effectiveness on clinical quality improvement: a systematic review. J Clin Biochem Nutr. 2023;73(2):108-115. https://doi.org/10.3164/jcbn.23-22
  17. Loh TP, Lim CY, Sethi SK, Tan RZ, Markus C. Advances in internal quality control. Crit Rev Clin Lab Sci. 2023;60(7):502-517. https://doi.org/10.1080/10408363.2023.2209174
  18. Nkengasong JN, Yao K, Onyebujoh P. Laboratory medicine in low-income and middle-income countries: progress and challenges. Lancet. 2018;391(10133):1873-1875. https://doi.org/10.1016/S0140-6736(18)30308-8
  19. Doxiadis I, Lehmann C. External proficiency testing exercises: challenges and opportunities. Front Genet. 2024;15:1304312. https://doi.org/10.3389/fgene.2024.1304312
  20. Dushimova Z, Alhassan MO, Asylkhan R, Aralbaeva A, Seitaliyeva A. Quality control in molecular genetics laboratory: a literature review. Oncol Radiol Kaz. 2025;1(75):110-118. https://doi.org/10.52532/2663-4864-2025-1-75-435
  21. Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, Shamseer L, Tetzlaff JM, Akl EA, Brennan SE, Chou R, Glanville J, Grimshaw JM, Hróbjartsson A, Lalu MM, Li T, Loder EW, Mayo-Wilson E, McDonald S, McGuinness LA, Moher D. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021;372:n71. https://doi.org/10.1136/bmj.n71
  22. Greenhalgh T, Thorne S, Malterud K. Time to challenge the spurious hierarchy of systematic over narrative reviews? Eur J Clin Invest. 2018;48:e12931. https://doi.org/10.1111/eci.12931
  23. McDevitt T, Durkie M, Arnold N, Burghel GJ, Butler S, Claes KBM, Logan P, Robinson R, Sheils K, Wolstenholme N, Hanson H, Turnbull C, Hume S. EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer. Eur J Hum Genet. 2024;32(5):479-488. https://doi.org/10.1038/s41431-023-01507-5
  24. Kim ET, Jeong HE, Yoon HJ, Kim KH, Suh DS. Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues. Taiwan J Obstet Gynecol. 2023;62(1):66-70. https://doi.org/10.1016/j.tjog.2022.07.010
  25. Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W. Development and validation of a next-generation sequencing assay for BRCA1 and BRCA2 variants for the clinical laboratory. PLoS One. 2015;10(8):e0136419. https://doi.org/10.1371/journal.pone.0136419
  26. Menon V, Brash DE. Next-generation sequencing methodologies to detect low-frequency mutations. Mutat Res Rev Mutat Res. 2023;792:108471. https://doi.org/10.1016/j.mrrev.2023.108471
  27. Lincoln SE, Kobayashi Y, Anderson MJ, Yang S, Desmond AJ, Mills MA, Nilsen GB, Jacobs KB, Monzon FA, Kurian AW, Ford JM, Ellisen LW. A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients. J Mol Diagn. 2015;17(5):533-544. https://doi.org/10.1016/j.jmoldx.2015.04.009
  28. O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Rehm HL. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017;19(5):575-582. https://doi.org/10.1038/gim.2016.152
  29. Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ, Medical Genome Initiative. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med. 2020;5:47. https://doi.org/10.1038/s41525-020-00154-9
  30. Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL. Practice guidelines for BRCA1/2 tumour testing in ovarian cancer. J Med Genet. 2022;59(8):727-736. https://doi.org/10.1136/jmedgenet-2021-108238
  31. Plebani M, Sciacovelli L. ISO 15189 accreditation: navigation between quality management and patient safety. J Med Biochem. 2017;36(3):225-230. https://doi.org/10.1515/jomb-2017-0038
  32. Dufraing K, Lierman E, Vankeerberghen A, Franke S, Dequeker E. External quality assessment for molecular diagnostic laboratories in Belgium: can we improve it? Accred Qual Assur. 2020;25:39-49. https://doi.org/10.1007/s00769-019-01410-x
  33. Alhammad LA, Ainosah TK, Ahmad AM, Samarkandi MS, Jawi NH, Alharthi MA, Alsharif AM, Anazi EAA, Aldugeshem SA, Johali FY. The impact of laboratory automation on efficiency and accuracy in healthcare settings. Int J Community Med Public Health. 2023;11(1):459-463. https://doi.org/10.18203/2394-6040.ijcmph20233857
  34. Wheeler S, Blasutig I, Dabla P, Giannoli J, Vassault A, Lin J, Cendejas K, Perret-Liaudet A, Bais R, Thomas A, Amann E, Meng Q. Quality standards and internal quality control practices in medical laboratories: an IFCC global survey of member societies. Clin Chem Lab Med. 2023;61(12):2094-2101. https://doi.org/10.1515/cclm-2023-0492

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