Next-generation sequencing in myeloproliferative malignancies: financial considerations in Polish context
, 1, 2
Abstract
In this study, we assessed a number of factors influencing the cost of Sanger sequencing and next-generation sequencing (NGS), including patient population and indications for genetic testing, reimbursement status of the described procedures, and material and personnel costs based on the example of the Department of Hematology and Genetic Diagnostics at The University Hospital in Krakow, Poland. We discuss the advantages and disadvantages of the innovative technology used for routine genetic diagnostics of patients in relation to the latest World Health Organization guidelines. As understanding of the genetic basis of diseases expands, and the range of available diagnostic methods increases, the cost of genetic testing continues to rise. This trend includes diagnostic tests based on NGS technology, which is constantly evolving to offer an increasingly broad range of studies of changes to the genome. Therefore, the challenge for healthcare funders is to ensure that reimbursement is commensurate with the capabilities of modern diagnostics, and that a lack of funding does not inhibit the ability to provide optimal care to patients.
Keywords: NGSacute myeloid leukemiamyeloproliferative neoplasmmethodology costgenes
References
- www.pkmp.org. pl, access date: December. ; 16: 2024.
- Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977; 74(12): 5463–5467.
- Lander ES, Linton LM, Birren B, et al. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001; 409(6822): 860–921.
- Bacher U, Shumilov E, Flach J, et al. Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use. Blood Cancer J. 2018; 8(11): 113.
- Human Genome Project. Definitions. 2019.
- Haferlach T. Advancing leukemia diagnostics: Role of Next Generation Sequencing (NGS) in acute myeloid leukemia. Hematol Rep. 2020; 12(Suppl 1): 8957.
- https://www.mycancergenome. org/, access date: December. ; 16: 2024.
- Panuzzo C, Jovanovski A, Ali MS, et al. Revealing the Mysteries of Acute Myeloid Leukemia: From Quantitative PCR through Next-Generation Sequencing and Systemic Metabolomic Profiling. J Clin Med. 2022; 11(3).
- Kawalec P. Farmakoekonomika. Warszawa : PWZL. ; 2021.
- Faulkner EC, Spinner DS, Ransom JF, et al. Next Generation Sequencing Technology: Health Technology Assessment, Market Access Trends and Potential Impacts on The Future of Companion Diagnostic Testing. Value Health. 2014; 17(7): A652.
- T Dm. i Robak. Podstawy Hematologii. Lublin : Czelej. ; 2003.
- Khoury J, Solary E, Abla O, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022; 36(7): 1703–1719.
- Döhner H, Estey E, Grimwade D, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017; 129(4): 424–447.
- Lewandowski K. Diagnostyka różnicowa przewlekłych nowotworów mieloproliferacyjnych Philadelphia-ujemnych. Hematologia. 2010, vol. ; 1: 59–70.
- AOTMiT, 2022; access date: December. ; 16: 2024.
- Slatko BE, Gardner AF, Ausubel FM. Overview of Next-Generation Sequencing Technologies. Curr Protoc Mol Biol. 2018; 122(1): e59.
- www.illumina.com. access date December. ; 16: 2024.
- www.nfz.gov. pl, access date: December. ; 18: 2024.
- Matthijs G, Souche E, Alders M, et al. EuroGentest, European Society of Human Genetics. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2016; 24(1): 2–5.
- Bartram J. (2023). Munich Leukemia Laboratory data.