3,928
Views
2
CrossRef citations to date
0
Altmetric
Review

Early technology assessment of using whole genome sequencing in personalized oncology

ORCID Icon, , , , , , , ORCID Icon, , & ORCID Icon show all
Pages 343-351 | Received 01 Mar 2021, Accepted 12 Apr 2021, Published online: 01 Jun 2021

References

  • Marquart J, Chen EY, Prasad V. Estimation of the percentage of us patients with cancer who benefit from genome-driven oncology. JAMA Oncol. 2018;4(8):1093–1098.
  • Lamberti G, Andrini E, Sisi M, et al. Beyond EGFR, ALK and ROS1: current evidence and future perspectives on newly targetable oncogenic drivers in lung adenocarcinoma. Crit Rev Oncol Hematol. 2020;156:103119.
  • Mosele F, Remon J, Mateo J, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO precision medicine working group. Ann Oncol. 2020;31(11):1491–1505.
  • Popper HH, Tímár J, Ryska A, et al.. Minimal requirements for the molecular testing of lung cancer. Transl Lung Cancer Res. 2014;3(5):301–304.
  • Priestley P, Baber J, Lolkema MP, et al. Pan-cancer whole-genome analyses of metastatic solid tumours. Nature. 575(7781): 210–216. 2019.
  • Nakagawa H, Fujita M. Whole genome sequencing analysis for cancer genomics and precision medicine. Cancer Sci. 2018;109(3):513–522.
  • Katsila T, Patrinos GP. Whole genome sequencing in pharmacogenomics. Front Pharmacol. 2015;6(61). 10.3389/fphar.2015.00061
  • Pasmans CT, Tops BB, Steegs EM, et al. Micro-costing diagnostics in oncology: from single-gene testing to whole genome sequencing. Expert Rev Pharmacoecon Outcomes Res. 2021. DOI: 10.1080/14737167.2021.1917385.
  • Schwarze K, Buchanan J, Fermont 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(1):85–94.
  • Van Nimwegen KJ, Van Soest RA, Veltman JA, et al. Is the $1000 genome as near as we think? a cost analysis of next-generation sequencing. Clin Chem. 2016;62(11):1458–1464.
  • Plöthner M, Frank M, Von Der Schulenburg JMG. Cost analysis of whole genome sequencing in German clinical practice. Eur J Health Econ. 2017;18(5):623–633.
  • Gordon LG, White NM, Elliott TM, et al. Estimating the costs of genomic sequencing in cancer control. BMC Health Serv Res. 2020;20(1):492.
  • Chenoweth MJ, Giacomini KM, Pirmohamed M, et al. Global pharmacogenomics within precision medicine: challenges and opportunities. Clin Pharmacol Ther. 2020;107(1):57–61.
  • Weymann D, Pataky R, Regier DA. Economic evaluations of next-generation precision oncology: a critical review. JCO Precis Oncol. 2018;1(2):1–23.
  • Degeling K, Koffijberg H, IJzerman MJ. A systematic review and checklist presenting the main challenges for health economic modeling in personalized medicine: towards implementing patient-level models. Expert Rev Pharmacoecon Outcomes Res. 2017;17(1):17–25.
  • Marshall DA, Grazziotin LR, Regier DA, et al. Addressing challenges of economic evaluation in precision medicine using dynamic simulation modeling. Value Health. 2020;23(5):566–573.
  • Phillips KA, Deverka PA, Marshall DA, et al. Methodological issues in assessing the economic value of next-generation sequencing tests: many challenges and not enough solutions. Value Health. 2018;21(9):1033–1042.
  • Faulkner E, Holtorf A-P, Walton S, et al. Being precise about precision medicine: what should value frameworks incorporate to address precision medicine? a report of the personalized precision medicine special interest group. Value Health. 2020;23(5):529–539.
  • Barwell JG, O’Sullivan RBG, Mansbridge LK, et al. Challenges in implementing genomic medicine: the 100,000 Genomes Project. Journal of Translational Genetics and Genomics. 2018;2:13.
  • Love-Koh J, Peel A, Rejon-Parrilla JC, et al. The future of precision medicine: potential impacts for health technology assessment. PharmacoEconomics. 2018;36(12):1439–1451.
  • Payne K, Eden M, Davison N, et al. Toward health technology assessment of whole-genome sequencing diagnostic tests: challenges and solutions. Per Med. 2017;14(3):235–247.
  • Schwarze K, Buchanan J, Taylor JC, et al. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med. 2018;20(10):1122–1130.
  • Stark Z, Dolman L, Manolio TA, et al. Integrating genomics into healthcare: a global responsibility. Am J Hum Genet. 104(1): 13–20. 2019.
  • Bennette CS, Gallego CJ, Burke W, et al. The cost-effectiveness of returning incidental findings from next-generation genomic sequencing. Genet Med. 2015;17(7):587–595.
  • Tan AC, Lai GGY, Tan GS, et al. Utility of incorporating next-generation sequencing (NGS) in an Asian non-small cell lung cancer (NSCLC) population: incremental yield of actionable alterations and cost-effectiveness analysis. Lung Cancer. 2020;139(207–215):207–215.
  • Tan O, Shrestha R, Cunich M, et al. Application of next-generation sequencing to improve cancer management: a review of the clinical effectiveness and cost-effectiveness. Clin Genet. 2018;93(3):533–544.
  • Veenstra DL, Mandelblatt J, Neumann P, et al. Health economics tools and precision medicine: opportunities and challenges. Forum Health Econ Policy. 2020;23(1). 10.1515/fhep-2019-0013
  • Steuten L, Goulart B, Meropol NJ, et al. Cost effectiveness of multigene panel sequencing for patients with advanced non–small-cell lung cancer. JCO Clin Cancer Inform. 2019;3(3):1–10.
  • Buchanan J, Wordsworth S. Evaluating the outcomes associated with genomic sequencing: a roadmap for future research. Pharmacoecon Open. 2019;3(2):129–132.
  • Turnbull C, Scott RH, Thomas E, et al. The 100 000 genomes project: bringing whole genome sequencing to the NHS. Bmj. 2018;361(k1687). 10.1136/bmj.k1687
  • Lethimonnier F, Levy Y. Genomic medicine France 2025. Ann Oncol. 2018;29(4):783–784.
  • Lévy Y. Genomic medicine 2025: france in the race for precision medicine. Lancet. 2016;388(10062):2872.
  • Lejeune C, Amado IF. Valuing genetic and genomic testing in France: current challenges and latest evidence. J Community Genet. 2021. 10.1007/s12687-020-00503-2
  • Lewis C, Hammond J, Hill M, et al. Young people’s understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: a qualitative study with participants in the UK 100, 000 genomes project. Eur J Med Genet. 2020;63(11):104043.
  • Lewis C, Sanderson S, Hill M, et al. Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study. Eur J Hum Genet. 2020;28(7):874–884.
  • Sanderson SC, Hill M, Patch C, et al. Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 genomes project. BMJ Open. 2019;9(11):e029699.
  • Hassan L, Dalton A, Hammond C, et al. A deliberative study of public attitudes towards sharing genomic data within NHS genomic medicine services in England. Public Understanding Sci. 2020;29(7):702–717.
  • Warren-Gash C, Kroese M, Burton H, et al. Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study. Hered Cancer Clin Pract. 2016;14(1):12.
  • Bins S, Cirkel GA, Gadellaa-Van Hooijdonk CG, et al. Implementation of a multicenter biobanking collaboration for next-generation sequencing-based biomarker discovery based on fresh frozen pretreatment tumor tissue biopsies. Oncologist. 2017;22(1):33–40.
  • Aaronson NK, Ahmedzai S, Bergman B, et al. The European organization for research and treatment of cancer QLQ-C30: a quality-of-life instrument for use in international clinical trials in oncology. J Natl Cancer Inst. 1993;85(5):365–376.
  • EuroQol Research Foundation. EQ-5D-5L User Guide, 2019. Available from: https://euroqol.org/publications/user-guides
  • Koopmanschap MA. PRODISQ: a modular questionnaire on productivity and disease for economic evaluation studies. Expert Rev Pharmacoecon Outcomes Res. 2005;5(1):23–28.
  • Simons M, Ramaekers B, Peeters A, et al. Observed versus modelled lifetime overall survival of targeted therapies and immunotherapies for advanced non-small cell lung cancer patients - A systematic review. Crit Rev Oncol Hematol. 153(103035): 103035. 2020.
  • Retèl VP, Joore MA, Linn SC, et al. Scenario drafting to anticipate future developments in technology assessment. BMC Res Notes. 2012;5(1):442.
  • Crown W, Buyukkaramikli N, Sir MY, et al. Application of constrained optimization methods in health services research: report 2 of the ispor optimization methods emerging good practices task force. Value Health. 2018;21(9):1019–1028.
  • Marshall DA, Burgos-Liz L, IJzerman MJ, et al. Applying dynamic simulation modeling methods in health care delivery research-the SIMULATE checklist: report of the ISPOR simulation modeling emerging good practices task force. Value Health. 2015;18(1):5–16.
  • Van De Ven M, Retèl VP, Koffijberg H, et al. Variation in the time to treatment for stage III and IV non-small cell lung cancer patients for hospitals in the Netherlands. Lung Cancer. 2019;134(34–41):34–41.
  • Van De Ven M, Koffijberg H, Retèl V, et al. Real-world utilization of biomarker testing for patients with advanced non-small-cell lung cancer in a tertiary referral center and referring hospitals. J Mol Diagn. 2021;23(4):484–494.
  • Ploem C, Mitchell C, Van Harten W, et al. Duty to recontact in the context of genetics: futuristic or realistic? Eur J Health Law. 2018;25(5):537–553.
  • Mitchell C, Ploem C, Retèl V, et al. Experts reflecting on the duty to recontact patients and research participants; why professionals should take the lead in developing guidelines. Eur J Med Genet. 2020;63(2):103642.
  • Giesbertz NAA, Van Harten WH, Bredenoord AL. A duty to recontact in genetics: context matters. Nat Rev Genet. 2019;20(7):371–372.
  • Janiaud P, Serghiou S, Ioannidis JPA. New clinical trial designs in the era of precision medicine: an overview of definitions, strengths, weaknesses, and current use in oncology. Cancer Treat Rev. 2019;73:20–30.
  • Samsom KG, Bosch LJW, Schipper LJ, et al. Study protocol: whole genome sequencing implementation in standard diagnostics for every cancer patient (WIDE). BMC Med Genomics. 13(1): 169. 2020.
  • Van Der Velden DL, Hoes LR, Van Der Wijngaart H, et al. The Drug Rediscovery protocol facilitates the expanded use of existing anticancer drugs. Nature. 574(7776): 127–131. 2019.
  • Hamada T, Nowak JA, Milner DA, et al. Integration of microbiology, molecular pathology, and epidemiology: a new paradigm to explore the pathogenesis of microbiome-driven neoplasms. J Pathol. 2019;247(5):615–628.
  • Ogino S, Nishihara R, VanderWeele TJ, et al. Review article: the role of molecular pathological epidemiology in the study of neoplastic and non-neoplastic diseases in the era of precision medicine. Epidemiology. 2016;27(4):602–611.