Whole genome sequencing in oncology: using scenario drafting to explore future developments

BMC Cancer

Martijn J. H. G. Simons¹  Manuela A. Joore¹  Michiel van de Ven²  Hendrik Koffijberg²  Valesca P. Retèl³  Wim H. van Harten⁴  Maarten J. IJzerman⁵ 

[1] Maastricht University Medical Center, Maastricht, The Netherlands;Maastricht University, Care and Public Health Research Institute (CAPHRI), Maastricht, The Netherlands;Technical Medical Centre, University of Twente, Enschede, The Netherlands;Technical Medical Centre, University of Twente, Enschede, The Netherlands;Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands;Technical Medical Centre, University of Twente, Enschede, The Netherlands;Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital (NKI-AVL), Amsterdam, The Netherlands;Rijnstate General Hospital, Arnhem, The Netherlands;Technical Medical Centre, University of Twente, Enschede, The Netherlands;University of Melbourne Centre for Cancer Research, University of Melbourne, Melbourne, Australia;Peter MacCallum Cancer Centre, Melbourne, Australia;

关键词: Whole genome sequencing;    Implementation;    Scenario drafting;    Uncertainty;    Oncology;   

DOI  :  10.1186/s12885-021-08214-8

来源: Springer

【 摘 要 】

BackgroundIn oncology, Whole Genome Sequencing (WGS) is not yet widely implemented due to uncertainties such as the required infrastructure and expertise, costs and reimbursements, and unknown pan-cancer clinical utility. Therefore, this study aimed to investigate possible future developments facilitating or impeding the use of WGS as a molecular diagnostic in oncology through scenario drafting.MethodsA four-step process was adopted for scenario drafting. First, the literature was searched for barriers and facilitators related to the implementation of WGS. Second, they were prioritized by international experts, and third, combined into coherent scenarios. Fourth, the scenarios were implemented in an online survey and their likelihood of taking place within 5 years was elicited from another group of experts. Based on the minimum, maximum, and most likely (mode) parameters, individual Program Evaluation and Review Technique (PERT) probability density functions were determined. Subsequently, individual opinions were aggregated by performing unweighted linear pooling, from which summary statistics were extracted and reported.ResultsSixty-two unique barriers and facilitators were extracted from 70 articles. Price, clinical utility, and turnaround time of WGS were ranked as the most important aspects. Nine scenarios were developed and scored on likelihood by 18 experts. The scenario about introducing WGS as a clinical diagnostic with a lower price, shorter turnaround time, and improved degree of actionability, scored the highest likelihood (median: 68.3%). Scenarios with low likelihoods and strong consensus were about better treatment responses to more actionable targets (26.1%), and the effect of centralizing WGS (24.1%).ConclusionsBased on current expert opinions, the implementation of WGS as a clinical diagnostic in oncology is heavily dependent on the price, clinical utility (both in terms of identifying actionable targets as in adding sufficient value in subsequent treatment), and turnaround time. These aspects and the optimal way of service provision are the main drivers for the implementation of WGS and should be focused on in further research. More knowledge regarding these factors is needed to inform strategic decision making regarding the implementation of WGS, which warrants support from all relevant stakeholders.

【 授权许可】

CC BY