PRECISION PUBLIC HEALTH PERSPECTIVE: IS GENOMIC POPULATION SCREENING A VIABLE OPTION FOR THE EARLY DETECTION OF RISKS FOR ONCOLOGICAL DISEASES? REFLECTIONS FROM SERBIA

  • Bosiljka Đikanović University of Belgrade, Faculty of Medicine, Institute of Social Medicine, Belgrade
  • Janko Janković University of Belgrade, Faculty of Medicine, Institute of Social Medicine, Belgrade
  • Milena Cavic Department of Experimental Oncology, Institute for Oncology and Radiology of Serbia
Keywords: precision public health, genomics, artificial intelligence, oncological diseases, screening, health policy

Abstract


This paper aims to discuss the term precision public health and its application in the early detection of oncological diseases and genomic risks for these diseases. The use of artificial intelligence and genomic profiling are briefly elaborated on, including reflections on the current status of innovative approaches in the Republic of Serbia. An environment for big genetic and health data sets storage that is protected and interoperable needs to be created, in keeping with the findability, accessibility, interoperability, and reusability (FAIR) principles. Wider use of genomics in the early detection of risks for oncological diseases must meet the well-established criteria for population screening, which is currently not the case. The risk factors that can trigger the penetrance of genes, thus leading to oncological disease, are also well known, and are as follows: unhealthy environments including air pollution, smoking and exposure to second-hand smoke,
stress, unbalanced diet, and other harmful factors. Therefore, health governance bodies and health policy decision-makers should focus on building a healthy environment as much as on working on the technical and technological health information infrastructure necessary for further development of genomics and precision public health.

References

Ferlay J, Ervik M, Lam F, Laversanne M, Colombet M, Mery L, et al. Global Cancer Observatory: Cancer Today. Lyon, France: International Agency for Research on Cancer. [Internet]. 2024 [accessed 2025 February 25]. Available from: https://gco.iarc.who.int/media/globocan/factsheets/populations/688-serbia-fact-sheet.pdf

International Agency for Research on Cancer. WHO. Global Cancer Observatory: Cancer TODAY. Data version: Globocan 2022 (version 1.1) - 08.02.2024. [Internet]. [accessed 2025 February 25]. Available from: https://gco.iarc.who.int

The Tobacco Atlas (a partnership between Vital Strategies and Tobacconomics at Johns Hopkins University). Country Factsheets. Serbia. [Internet]. 2024 [accessed 2025 February 25]. Available from: https://tobaccoatlas.org/factsheets/serbia/

WHO Regional Office for Europe. Health impact of ambient air pollution in Serbia: a call to action. WHO. [Internet]. 2019 [accessed 2025 February 25]. Available from: https://serbia.un.org/sites/default/files/2019-10/Health-impact-pollution-Serbia_0.pdf

Cavic M, Nikolic N, Marinkovic M, Damjanovic A, Krivokuca A, Tanic M, et al. Two Decades of Progress in Personalized Medicine of Colorectal Cancer in Serbia-Insights from the Institute for Oncology and Radiology of Serbia. Biomedicines. 2024 Oct 8;12(10):2278. doi: 10.3390/biomedicines12102278.

Statistical Office of the Republic of Serbia (SORS). Statistical Release, 03.07.2023. [Internet]. 2023 [accessed 2025 February 25]. Available from: https://www.stat.gov.rs/en-us/vesti/statisticalrelease/?p=13622

Statistical Office of the Republic of Serbia (SORS). [Internet]. 2025. [accessed 2025 February 27]. Available from: https://data.stat.gov.rs/Home/Result/180706?languageCode=en-US&displayMode=table

Uredba o nacionalnom programu ranog otkrivanja karcinoma grlića materice. (Decree on the National Program for Early Detection of Cervical Cancer). Službeni glasnik RS. 73/2013, 83/2013. [Internet]. 2013 [accessed 2025 February 25]. Available from: https://www.pravno-informacioni-sistem.rs/SlGlasnikPortal/eli/rep/sgrs/vlada/uredba/2013/83/2

Uredba o nacionalnom programu ranog otkrivanja karcinoma dojke. (Decree on the National Program for Early Detection of Breast Cancer). Službeni glasnik RS. 73/2013-9, 83/2013-3. [Internet]. 2013 [accessed 2025 February 25]. Available from: http://www.pravno-informacioni-sistem.rs/SlGlasnikPortal/eli/rep/sgrs/vlada/uredba/2013/73/1/reg

Uredba o nacionalnom programu ranog otkrivanja kolorektalnog karcinoma. (Decree on the National Program for Early Detection of Colorectal Cancer). Službeni glasnik RS. 73/2013-15. [Internet]. 2013 [accessed 2025 February 25]. Available from: https://www.pravno-informacioni-sistem.rs/SlGlasnikPortal/eli/rep/sgrs/vlada/uredba/2013/73/3

Institute of Public Health of Serbia (IPHS) "Dr Milan Jovanović Batut". National Cancer Screening Office. [Internet]. 2013. Available from: https://www.skriningsrbija.rs/eng/general-information-about-screening/

Bjegovic-Mikanovic V, Vasic M, Vukovic D, Jankovic J, Jovic-Vranes A, Santric-Milicevic M, et al. Serbia: Health system review. Health Systems in Transition, 2019;21(3):i-211.

Eurostat. Cancer screening statistics. [Internet]. [accessed 2025 February 27]. Available from: https://ec.europa.eu/eurostat/statistics-explained/index.php?title=Cancer_screening_statistics.

Istraživačko-razvojni institut za veštačku inteligenciju Srbije. Primena AI u mamografiji. [Internet]. [accessed 2025 February 27]. Available from: https://ivi.ac.rs/project/primena-ai-u-mamografiji/

Silva HECD, Santos GNM, Leite AF, Mesquita CRM, Figueiredo PTS, Stefani CM, et al. The use of artificial intelligence tools in cancer detection compared to the traditional diagnostic imaging methods: An overview of the systematic reviews. PLoS One. 2023 Oct 5;18(10):e0292063. doi: 10.1371/journal.pone.0292063.

Rodríguez-Ruiz A, Krupinski E, Mordang JJ, Schilling K, Heywang-Köbrunner SH, Sechopoulos I, et al. Detection of Breast Cancer with Mammography: Effect of an Artificial Intelligence Support System. Radiology. 2019 Feb;290(2):305-314. doi: 10.1148/radiol.2018181371.

Bao C, Shen J, Zhang Y, Zhang Y, Wei W, Wang Z, et al. Evaluation of an artificial intelligence support system for breast cancer screening in Chinese people based on mammogram. Cancer Med. 2023 Feb;12(3):3718-3726. doi: 10.1002/cam4.5231.

Konstantinidis K. The shortage of radiographers: A global crisis in healthcare. J Med Imaging Radiat Sci. 2024 Dec;55(4):101333. doi: 10.1016/j.jmir.2023.10.001.

Eisemann N, Bunk S, Mukama T, Baltus H, Elsner SA, Gomille T, et al. Nationwide real-world implementation of AI for cancer detection in population-based mammography screening. Nat Med. 2025. doi: 10.1038/s41591-024-03408-6. Online ahead of print.

Hernström V, Josefsson V, Sartor H, Schmidt D, Larsson AM, Hofvind S, et al. Screening performance and characteristics of breast cancer detected in the Mammography Screening with Artificial Intelligence trial (MASAI): a randomised, controlled, parallel-group, non-inferiority, single-blinded, screening accuracy study. Lancet Digit Health. 2025 Mar;7(3):e175-e183. doi: 10.1016/S2589-7500(24)00267-X.

Khoury MJ, Iademarco MF, Riley WT. Precision Public Health for the Era of Precision Medicine. Am J Prev Med. 2016 Mar;50(3):398-401. doi: 10.1016/j.amepre.2015.08.031.

Koleva-Kolarova R, Buchanan J, Vellekoop H, Huygens S, Versteegh M, Mölken MR, et al.; HEcoPerMed Consortium. Financing and Reimbursement Models for Personalised Medicine: A Systematic Review to Identify Current Models and Future Options. Appl Health Econ Health Policy. 2022 Jul;20(4):501-524. doi: 10.1007/s40258-021-00714-9.

Koleva-Kolarova R, Szilberhorn L, Zelei T, Vellekoop H, Nagy B, Huygens S, et al. Financial incentives to promote personalized medicine in Europe: an overview and guidance for implementation. Per Med. 2023 Jul;20(4):305-319. doi: 10.2217/pme-2022-0145.

Genomski ekosistem u Srbiji. Pregled stanja u oblasti. Izveštaj, juni 2023. godine. [Internet] 2023 [accessed 2025 February 27]. Available from: https://c4ir.rs/wp-content/uploads/2024/02/Genomski-ekosistem-SRB-CIR-1.pdf

Blic. [Internet] 2024 [accessed 2025 February 27]. Available from: https://zdravlje.blic.rs/aktuelnosti/srbija-vise-nego-ikada-ulaze-u-inovativne-lekove-direktorka-rfzo-otvorila/3d74x2r

Kee F, Taylor-Robinson D. Scientific challenges for precision public health. J Epidemiol Community Health. 2020 Apr;74(4):311-314. doi: 10.1136/jech-2019-213311.

The Lancet Public Health. Next generation public health: towards precision and fairness. Lancet Public Health. 2019 May;4(5):e209. doi: 10.1016/S2468-2667(19)30064-7.

Horton R. Offline: In defence of precision public health. Lancet. 2018 Oct 27;392(10157):1504. doi: 10.1016/S0140-6736(18)32741-7.

Roberts MC, Holt KE, Del Fiol G, Baccarelli AA, Allen CG. Precision public health in the era of genomics and big data. Nat Med. 2024 Jul;30(7):1865-1873. doi: 10.1038/s41591-024-03098-0.

Williams MS. Population Screening in Health Systems. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:549-567. doi: 10.1146/annurev-genom-111221-115239.

Genomics England, official website. 100 000 genomes project. [Internet]. [accessed 2025 February 27]. Available from: https://www.genomicsengland.co.uk/initiatives/100000-genomes-project

European Commission. Shaping Europe’s digital future. European “1+ Million Genomes” Initiative. [Internet]. [accessed 2025 February 27]. Available from: https://digital-strategy.ec.europa.eu/en/policies/1-million-genomes

The Genome of Europe initiative. [Internet]. [accessed 2025 February 27]. Available from: https://b1mg-project.eu/1mg/genome-europe

Drljaca T, Zukic B, Kovacevic V, Gemovic B, Klaassen-Ljubicic K, Perovic V, et al. The first insight into the genetic structure of the population of modern Serbia. Sci Rep. 2021 Jul 7;11(1):13995. doi: 10.1038/s41598-021-93129-4.

Centar za četvrtu industrijsku revoluciju u Srbiji. Centar deo konzorcijuma Genome Europe, vest 23.11.2023. [Internet]. [accessed 2025 February 27]. Available from: https://c4ir.rs/centar-deo-konzorcijuma-genome-of-europe/

Ministartsvo prosvete Republike Srbije. Javni poziv MASTER 4.0 za izbor studijskih programa master akademskih studija iz oblasti bioinformatike. (Ministry of Education of the Republic of Serbia). [Internet]. [accessed 2025 February 27]. Available from: https://prosveta.gov.rs/vesti/javni-poziv-master-4-0-za-izbor-studijskih-programa-master-akademskih-studija-iz-oblasti-bioinformatike/

Centar za četvrtu industrijsku revoluciju u Srbiji. Projekat DNK skrininga. Iskoristi svoje genetičke informacije za zdraviju budućnost. [Internet]. [accessed 2025 February 27]. Available from: https://c4ir.rs/sr-rs/projekat-02-cir/

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015 Jan;17(1):70-87. doi: 10.1038/gim.2014.147.

Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr 10;25(11):1329-33. doi: 10.1200/JCO.2006.09.1066.

Armstrong N, Ryder S, Forbes C, Ross J, Quek RG. A systematic review of the international prevalence of BRCA mutation in breast cancer. Clin Epidemiol. 2019 Jul 11;11:543-561. doi: 10.2147/CLEP.S206949.

Mucci LA, Hjelmborg JB, Harris JR, Czene K, Havelick DJ, Scheike T, et al; Nordic Twin Study of Cancer (NorTwinCan) Collaboration. Familial Risk and Heritability of Cancer Among Twins in Nordic Countries. JAMA. 2016 Jan 5;315(1):68-76. doi: 10.1001/jama.2015.17703.

Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, et al. Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia. J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z.

Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug. Report No.: 19-05251-EF-1.

Murray MF, Evans JP, Khoury MJ. DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps. JAMA. 2020 Jan 28;323(4):307-308. doi: 10.1001/jama.2019.18640.

Robertson AJ, Mallett AJ, Stark Z, Sullivan C. It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine. JMIR Bioinform Biotechnol. 2024 Jun 13;5:e55632. doi: 10.2196/55632.

World Cancer Research Fund. Lung Cancer Statistics. [Internet]. 2022 [accessed 2025 February 27]. Available from: https://www.wcrf.org/preventing-cancer/cancer-statistics/lung-cancer-statistics/?utm_source=chatgpt.com

Buchanan AH, Lester Kirchner H, Schwartz MLB, Kelly MA, Schmidlen T, Jones LK, et al. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet Med. 2020 Nov;22(11):1874-1882. doi: 10.1038/s41436-020-0876-4.

Hayward J, Evans W, Miller E, Rafi I. Embedding genomics across the NHS: a primary care perspective. Future Healthc J. 2023 Nov;10(3):263-269. doi: 10.7861/fhj.2023-0116.

Wildin RS, Giummo CA, Reiter AW, Peterson TC, Leonard DGB. Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel. Front Genet. 2022 Apr 25;13:867334. doi: 10.3389/fgene.2022.867334.

Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: World Health Organization. 1968.

Turnbull C, Firth HV, Wilkie AOM, Newman W, Raymond FL, Tomlinson I, et al. Population screening requires robust evidence-genomics is no exception. Lancet. 2024 Feb 10;403(10426):583-586. doi: 10.1016/S0140-6736(23)02295-X.

Guzauskas GF, Garbett S, Zhou Z, Schildcrout JS, Graves JA, Williams MS, et al. Population Genomic Screening for Three Common Hereditary Conditions: A Cost-Effectiveness Analysis. Ann Intern Med. 2023 May;176(5):585-595. doi: 10.7326/M22-0846.

Guzauskas GF, Garbett S, Zhou Z, Spencer SJ, Smith HS, Hao J, et al. Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States. JAMA Netw Open. 2020 Oct 1;3(10):e2022874. doi: 10.1001/jamanetworkopen.2020.22874.

Wei X, Sun L, Slade E, Fierheller CT, Oxley S, Kalra A, et al. Cost-Effectiveness of Gene-Specific Prevention Strategies for Ovarian and Breast Cancer. JAMA Netw Open. 2024 Feb 5;7(2):e2355324. doi: 10.1001/jamanetworkopen.2023.55324.

Mansur A, Zhang F, Lu CY. Association between Health Insurance Type and Genetic Testing and/or Counseling for Breast and Ovarian Cancer. J Pers Med. 2022 Jul 31;12(8):1263. doi: 10.3390/jpm12081263.

Roberts MC, Allen CG. Next-Generation Public Health Genomics: A Call to Assess the Equitable Implementation, Population Health Impact, and Sustainability of Precision Public Health Applications. Public Health Genomics. 2024;27(1):30-34. doi: 10.1159/000535579.

Ollis S, Kovačević M, Djikanovic B, Radoman N, Smigic I, Barry MA. Maturity Assessment of the Health Information System Using Stages of Continuous Improvement Methodology: Results From Serbia. Glob Health Sci Pract. 2024 Oct 29;12(5):e2400083. doi: 10.9745/GHSP-D-24-00083.

Centre for the Fourth Industrial Revolution Network. Network Impact Report 2022/2023. Centre for the Fourth Industrial Revolution, World Economic Forum. [Internet]. 2024 [accessed 2025 January 27]. Available from: https://c4ir.rs/wp-content/uploads/2024/01/WEF_C4IR_Network_Impact_Report_2022-2023.pdf

Wilkinson MD, Dumontier M, Aalbersberg IJ, Appleton G, Axton M, Baak A, et al. The FAIR Guiding Principles for scientific data management and stewardship. Sci Data. 2016 Mar 15;3:160018. doi: 10.1038/sdata.2016.18.

Published
2025/04/09
Section
In the spotlight