Kazdal D, Endris V, Allgauer M, Kriegsmann M, Leichsenring J, Volckmar AL, et al. Spatial and temporal heterogeneity of panel-based tumor mutational burden in pulmonary adenocarcinoma: separating biology from technical artifacts. J Thorac Oncol. 2019;14:1935–47.
Volckmar AL, Leichsenring J, Kirchner M, Christopoulos P, Neumann O, Budczies J, et al. Combined targeted DNA and RNA sequencing of advanced NSCLC in routine molecular diagnostics: Analysis of the first 3000 Heidelberg cases. Int J Cancer. 2019;145:649–61.
Menzel M, Martis-Thiele M, Goldschmid H, Ott A, Romanovsky E, Siemanowski-Hrach J, et al. Benchmarking whole exome sequencing in the German network for personalized medicine. Eur J Cancer. 2024;211:114306.
Mateo J, Steuten L, Aftimos P, Andre F, Davies M, Garralda E, et al. Delivering precision oncology to patients with cancer. Nat Med. 2022;28:658–65.
Budczies J, Kazdal D, Menzel M, Beck S, Kluck K, Altbürger C, et al. Tumour mutational burden: clinical utility, challenges and emerging improvements. Nat Rev Clin Oncol. 2024;21:725–42.
Marcus L, Lemery SJ, Keegan P, Pazdur R. FDA Approval Summary: Pembrolizumab for the Treatment of Microsatellite Instability-High Solid Tumors. Clin Cancer Res. 2019;25:3753–8.
Lord CJ, Ashworth A. PARP inhibitors: Synthetic lethality in the clinic. Science. 2017;355:1152–8.
Akhoundova D, Rubin MA. The grand challenge of moving cancer whole-genome sequencing into the clinic. Nat Med. 2024;30:39–40.
Cancer Genome Atlas Research N, Weinstein JN, Collisson EA, Mills GB, Shaw KR, Ozenberger BA, et al. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet. 2013;45:1113–20.
Consortium ITP-CAoWG. Pan-cancer analysis of whole genomes. Nature. 2020;578:82–93.
Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Tian Ng AW, Wu Y, et al. The repertoire of mutational signatures in human cancer. Nature. 2020;578:94–101.
Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, et al. Signatures of mutational processes in human cancer. Nature. 2013;500:415–21.
Abbasi A, Alexandrov LB. Significance and limitations of the use of next-generation sequencing technologies for detecting mutational signatures. DNA Repair. 2021;107:103200.
Horak P, Heining C, Kreutzfeldt S, Hutter B, Mock A, Hullein J, et al. Comprehensive genomic and transcriptomic analysis for guiding therapeutic decisions in patients with rare cancers. Cancer Discov. 2021;11:2780–95.
Mangat PK, Halabi S, Bruinooge SS, Garrett-Mayer E, Alva A, Janeway KA, et al. Rationale and Design of the Targeted Agent and Profiling Utilization Registry (TAPUR) Study. JCO Precis Oncol. 2018;2:1–14.
Till A, Siddiqui RA, Altbürger C, Schwarz R, Huebner T, Wolf J, et al. Germany’s national genomDE strategy. Nat Med. 2025;31:3981–4.
van der Velden DL, Hoes LR, van der Wijngaart H, van Berge Henegouwen JM, van Werkhoven E, Roepman P, et al. The Drug Rediscovery protocol facilitates the expanded use of existing anticancer drugs. Nature. 2019;574:127–31.
Priestley P, Baber J, Lolkema MP, Steeghs N, de Bruijn E, Shale C, et al. Pan-cancer whole-genome analyses of metastatic solid tumours. Nature. 2019;575:210–6.
Illert AL, Stenzinger A, Bitzer M, Horak P, Gaidzik VI, Möller Y, et al. The German Network for Personalized Medicine to enhance patient care and translational research. Nat Med. 2023;29:1298–301.
PFMG2025-contributors. PFMG2025-integrating genomic medicine into the national healthcare system in France. Lancet Reg Health Eur. 2025;50:101183.
Edsjö A, Lindstrand A, Gisselsson D, Molling P, Friedman M, Cavelier L, et al. Building a precision medicine infrastructure at a national level: The Swedish experience. Camb Prism Precis Med. 2023;1:e15.
Stenzinger A, Moltzen EK, Winkler E, Molnar-Gabor F, Malek N, Costescu A, et al. Implementation of precision medicine in healthcare-A European perspective. J Intern Med. 2023;294:437–54.
Cuppen E, Elemento O, Rosenquist R, Nikic S, IJzerman M, Zaleski ID, et al. Implementation of whole-genome and transcriptome sequencing into clinical cancer care. JCO Precis Oncol. 2022;6:1–11.
Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L, et al. Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. Nat Med. 2024;30:279–89.
Lancet The. O. Incorporating whole-genome sequencing into cancer care. Lancet Oncol. 2024;25:945.
Mordaunt DA, Gonzalez FS, Lunke S, Eggers S, Sadedin S, Chong B, et al. The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study. Genet Med. 2024;26:101058.
Bayle A, Droin N, Besse B, Zou Z, Boursin Y, Rissel S, et al. Whole exome sequencing in molecular diagnostics of cancer decreases over time: evidence from a cost analysis in the French setting. Eur J Health Econ. 2021;22:855–64.
Pasmans CTB, Tops BBJ, Steeghs EMP, Coupe VMH, Grunberg K, de Jong EK, et al. Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing. Expert Rev Pharmacoecon Outcomes Res. 2021;21:413–4.
Schwarze K, Buchanan J, Fermont JM, Dreau H, Tilley MW, Taylor JM, et al. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet Med. 2020;22:85–94.
Thangavelu T, Wirta V, Orsmark-Pietras C, Cavelier L, Fioretos T, Barbany G, et al. Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencing. J Med Econ. 2024;27:1053–60.
van Nimwegen KJ, van Soest RA, Veltman JA, Nelen MR, van der Wilt GJ, Vissers LE, et al. Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing. Clin Chem. 2016;62:1458–64.
Wadensten E, Wessman S, Abel F, Diaz De Stahl T, Tesi B, Orsmark Pietras C, et al. Diagnostic yield from a nationwide implementation of precision medicine for all children with cancer. JCO Precis Oncol. 2023;7:1–11.
Samsom KG, Schipper LJ, Roepman P, Bosch LJ, Lalezari F, Klompenhouwer EG, et al. Feasibility of whole-genome sequencing-based tumor diagnostics in routine pathology practice. J Pathol. 2022;258:179–88.
Tarifvertraege: Tarifgemeinschaft deutscher Laender; [Available from: www.tdl-online.de/tarifvertraege/], last accessed 10/10/2025 (published 2023).
Chang W, Cheng J, Allaire JJ, Sievert C, Schloerke B, Xie Y, et al. shiny: Web Application Framework for R. R package version 1.11.1.9000. 2025; https://shiny.posit.co/.
Henkel PS, Aas E, Russnes HG, Dyvik I, Fagereng GL, Helland A, et al. Microcosting study of genomic profiling for precision cancer medicine: application from the National Infrastructure for Precision Diagnostics in Norway. J Mol Diagn. 2025;27:945–53.
Strom SP. Current practices and guidelines for clinical next-generation sequencing oncology testing. Cancer Biol Med. 2016;13:3–11.
Basyuni S, Heskin L, Degasperi A, Black D, Koh GCC, Chmelova L, et al. Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility. Nat Commun. 2024;15:7731.
Litchfield C, Nienhold R, Wicki A, Schmid M, Aguilera-Garcia D, Koelzer VH, et al. Integrating Formalin-fixed, paraffin-embedded-derived whole-genome sequencing into routine molecular pathology: validation and first experiences in metastatic Melanoma. J Mol Diagn. 2025;27:722–35.
Vu M, Degeling K, Ryland GL, Hofmann O, Ng AP, Westerman D, et al. Economic impact of whole genome sequencing and whole transcriptome sequencing versus routine diagnostic molecular testing to stratify patients with B-cell acute lymphoblastic leukemia. J Mol Diagn. 2024;26:673–84.
Gordon LG, White NM, Elliott TM, Nones K, Beckhouse AG, Rodriguez-Acevedo AJ, et al. Estimating the costs of genomic sequencing in cancer control. BMC Health Serv Res. 2020;20:492.
Monetary policy: European Central Bank; [Available from: https://www.ecb.europa.eu/ecb/orga/tasks/monpol/html/index.en.html], last accessed 10/10/2025 (published 2022).
Ehman M, Sharma K, Weymann D, Maroilley T, Mohajeri A, Lehman A, et al. The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases. Genet Med. 2025;27:101568.
DNA Sequencing Costs: Data: National Human Genome Research Institute; [Available from: https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data], last accessed 01/26/2026 (published 2022).
Socea JN, Stone VN, Qian X, Gibbs PL, Levinson KJ. Implementing laboratory automation for next-generation sequencing: benefits and challenges for library preparation. Front Public Health. 2023;11:1195581.
Ball M, Romanovsky E, Schnecko F, Kirchner M, Neumann O, Brandt R, et al. Clinical implementation of a high-throughput automated comprehensive genomic profiling test: TruSight Oncology 500 HT. J Mol Diagn. 2025;27:154–62.
Meijers E, Verhees FB, Heemskerk D, Wessels E, Claas ECJ, Boers SA. Automating the Illumina DNA library preparation kit for whole genome sequencing applications on the flowbot ONE liquid handler robot. Sci Rep. 2024;14:8159.
Li Q, Ren Z, Cao K, Li MM, Wang K, Zhou Y. CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer. Sci Adv. 2022;8:eabj1624.
Westphalen CB, Boscolo Bielo L, Aftimos P, Beltran H, Benary M, Chakravarty D, et al. ESMO Precision Oncology Working Group recommendations on the structure and quality indicators for molecular tumour boards in clinical practice. Ann Oncol. 2025;36:614–25.