Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)

Autor: Luuk J. Schipper, Paul Roepman, Kris G. Samsom, Ewart de Bruijn, Valesca P. Retèl, Kim Monkhorst, Lieke Schoenmaker, Gerrit A. Meijer, Lizet E. van der Kolk, L.R. Hoes, Geert W.J. Frederix, Edwin Cuppen, Emile E. Voest, Immy Riethorst, Jacobus J M van der Hoeven, Linda J.W. Bosch, Tineke E. Buffart
Přispěvatelé: Health Technology Assessment (HTA)
Rok vydání: 2020
Předmět:
0301 basic medicine
medicine.medical_specialty
lcsh:Internal medicine
Technology Assessment
Biomedical
lcsh:QH426-470
Clinical Decision-Making
Single test
Specimen Handling
Workflow
03 medical and health sciences
Study Protocol
0302 clinical medicine
SDG 3 - Good Health and Well-being
Neoplasms
Cancer centre
Genetics
medicine
Biomarkers
Tumor
Humans
Medical physics
Clinical efficacy
Precision Medicine
lcsh:RC31-1245
Diagnostics
Genetics (clinical)
Cancer
Protocol (science)
Whole Genome Sequencing
business.industry
Patient Selection
Health technology
Standard of Care
DNA
Neoplasm
Biomarker
Molecular diagnostics
Personalized medicine
lcsh:Genetics
Observational Studies as Topic
030104 developmental biology
Molecular Diagnostic Techniques
Research Design
030220 oncology & carcinogenesis
Feasibility Studies
Performance indicator
business
Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Zdroj: BMC Medical Genomics
BMC Medical Genomics, 13
BMC Medical Genomics, 13, 1
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-7 (2020)
BMC Medical Genomics, 13(1). BioMed Central Ltd.
ISSN: 1755-8794
1471-2350
Popis: Background ‘Precision oncology’ can ensure the best suitable treatment at the right time by tailoring treatment towards individual patient and comprehensive tumour characteristics. In current molecular pathology, diagnostic tests which are part of the standard of care (SOC) only cover a limited part of the spectrum of genomic changes, and often are performed in an iterative way. This occurs at the expense of valuable patient time, available tissue sample, and interferes with ‘first time right’ treatment decisions. Whole Genome Sequencing (WGS) captures a near complete view of genomic characteristics of a tumour in a single test. Moreover, WGS facilitates faster implementation of new treatment relevant biomarkers. At present, WGS mainly has been applied in study settings, but its performance in a routine diagnostic setting remains to be evaluated. The WIDE study aims to investigate the feasibility and validity of WGS-based diagnostics in clinical practice. Methods 1200 consecutive patients in a single comprehensive cancer centre with (suspicion of) a metastasized solid tumour will be enrolled with the intention to analyse tumour tissue with WGS, in parallel to SOC diagnostics. Primary endpoints are (1) feasibility of implementation of WGS-based diagnostics into routine clinical care and (2) clinical validation of WGS by comparing identification of treatment-relevant variants between WGS and SOC molecular diagnostics. Secondary endpoints entail (1) added clinical value in terms of additional treatment options and (2) cost-effectiveness of WGS compared to SOC diagnostics through a Health Technology Assessment (HTA) analysis. Furthermore, the (3) perceived impact of WGS-based diagnostics on clinical decision making will be evaluated through questionnaires. The number of patients included in (experimental) therapies initiated based on SOC or WGS diagnostics will be reported with at least 3 months follow-up. The clinical efficacy is beyond the scope of WIDE. Key performance indicators will be evaluated after every 200 patients enrolled, and procedures optimized accordingly, to continuously improve the diagnostic performance of WGS in a routine clinical setting. Discussion WIDE will yield the optimal conditions under which WGS can be implemented in a routine molecular diagnostics setting and establish the position of WGS compared to SOC diagnostics in routine clinical care.
Databáze: OpenAIRE
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