Periodic Reporting for period 1 - Instand-NGS4P (Integrated and standardized NGS workflows for Personalised therapy)
Período documentado: 2020-01-01 hasta 2021-09-30
INtegrated and STANDardized NGS workflows FOR Personalized therapy (Instand-NGS4P) is an EU-funded Pre-Commercial Procurement (PCP) project for improving cancer patient's benefit from Next Generation Sequencing (NGS) -based diagnostics by developing integrated and standardized NGS workflows. For this, it will compile information from cancer gene testing, pharmacogenomics testing and e-medication in proper presentation to medical doctors for supporting therapy decision making at the bedside widely applicable in health systems.
Instand-NGS4P started on January 1st 2020, with a consortium of 18 partners and will end on May 31st 2025. The consortium comprises the following beneficiaries: 7 European leading medical centres from 5 countries (two are coordinating European Reference Networks) as the buyers’ group, 2 European patient advocacy groups, 1 standardization organization, the Organisation of European Cancer Institutes (OECI – BE) representing 92 entities, 1 SME, who will act as future potential buyer, and brings in the needs of SMEs, iPRI (International Prevention Research Institute – FR), ensuring transparent dissemination to cancer institutes worldwide, and partners participating in the European Research infrastructures as well as several partners involved in NGS-related EU programs.
Major challenges to be addressed are:
• Improving the analytical performance by standardizing pre-analytical processes
• Integrating pre-analytical, analytical processes and data analytics into a standardized workflow
• Defining genetic variants with established medical implications for common and rare, adult and paediatric cancers including pharmacogenomics variants relevant for drugs used in cancer care
• Making this information available in the proper format for clinicians to support decision making at the bedside
• Developing reference material for quality control
• Addressing requirements of the European in vitro diagnostics regulation and applicable standards
Instand-NGS4P started on January 1st 2020, with a consortium of 18 partners and will end on May 31st 2025. The consortium comprises the following beneficiaries: 7 European leading medical centres from 5 countries (two are coordinating European Reference Networks) as the buyers’ group, 2 European patient advocacy groups, 1 standardization organization, the Organisation of European Cancer Institutes (OECI – BE) representing 92 entities, 1 SME, who will act as future potential buyer, and brings in the needs of SMEs, iPRI (International Prevention Research Institute – FR), ensuring transparent dissemination to cancer institutes worldwide, and partners participating in the European Research infrastructures as well as several partners involved in NGS-related EU programs.
Major challenges to be addressed are:
• Improving the analytical performance by standardizing pre-analytical processes
• Integrating pre-analytical, analytical processes and data analytics into a standardized workflow
• Defining genetic variants with established medical implications for common and rare, adult and paediatric cancers including pharmacogenomics variants relevant for drugs used in cancer care
• Making this information available in the proper format for clinicians to support decision making at the bedside
• Developing reference material for quality control
• Addressing requirements of the European in vitro diagnostics regulation and applicable standards
Driven by patient and clinical needs, two innovative NGS workflows (for example, panel-based, whole exome or whole genome sequencing-based) from sample-pre-analytics to supporting medical decision-making will be developed for routine diagnostics of common and rare adult and paediatric cancers considering regulatory requirements of in vitro diagnostic medical devices. The workflow should cover well-defined genetic markers for diagnosis, validated prognostic genetic markers and validated actionable genetic markers. The modular design of the workflow by dividing it into 4 Lots, i.e. pre-sequencing, sequencing, bioinformatics, e-reporting/e-medication, will in particular enable SMEs to contribute, and provides flexibility to rapidly adopt emerging user needs and technologies as well as facilitates the use of lab-developed tests, which are required for diagnosis of rare cancers in case no IVD is available on the market. Furthermore, in order to prepare for regulatory compliance the requirements of applicable European and international standards has to be considered. In order to support the development and test the solutions to be developed the Buyers will provide test samples and data generated according to relevant ISO standards meeting applicable ethical and legal requirements as in-kind contribution.
The preparation phase (Phase 0) comprised an Open Market Consultation (OMC) as the major activity in order to align the specifications of users’ and patients’ needs with a wide stakeholder community and match these needs with R&D Solution Providers capabilities. The OMC consisted of 1 initial virtual meeting, 2 explanatory webinars and a structured questionnaire-based review. In total there were 264 external participants in the three meetings from 14 countries including 89 companies. Based on the feedbacks from the OMC, the Request for Tenders document was drafted and subsequently revised after having obtained feedback from external review organized by the European Commission.
A comprehensive review of applicable European and international (CEN and ISO) standards has also been performed. This review demonstrated a highly complex landscape of relevant standards developed both at CEN and ISO levels. To improve this complex situation a new standardization activity has been initiated to generate a CEN Technical Specification of whole NGS workflows in alignment with the existing standardization landscape.
In order to enable broad implementation of the NGS workflows developed in healthcare systems throughout Europe and beyond, and to increase benefit to patients, clinicians and R&D Solution Providers, a series of support activities are planned. These include communication and dissemination activities targeting a broad stakeholder and potential customer community, development of training and education material for healthcare professionals and patients, contribution to the development of a new standard for NGS-based diagnostic workflows, health economic assessment and engagement with healthcare payers and policy makers.
Summary of key achievements:
- Prior Information Notice published on December 28th 2020
- Open Market Consultation launched on March 22nd-23rd 2021
- Contract Notice has been drafted and was published on the TED portal on October 19th 2021. Solution Providers are invited to submit their tenders for all 3 PCP phases in context of a single call by December 19th 2021.
The preparation phase (Phase 0) comprised an Open Market Consultation (OMC) as the major activity in order to align the specifications of users’ and patients’ needs with a wide stakeholder community and match these needs with R&D Solution Providers capabilities. The OMC consisted of 1 initial virtual meeting, 2 explanatory webinars and a structured questionnaire-based review. In total there were 264 external participants in the three meetings from 14 countries including 89 companies. Based on the feedbacks from the OMC, the Request for Tenders document was drafted and subsequently revised after having obtained feedback from external review organized by the European Commission.
A comprehensive review of applicable European and international (CEN and ISO) standards has also been performed. This review demonstrated a highly complex landscape of relevant standards developed both at CEN and ISO levels. To improve this complex situation a new standardization activity has been initiated to generate a CEN Technical Specification of whole NGS workflows in alignment with the existing standardization landscape.
In order to enable broad implementation of the NGS workflows developed in healthcare systems throughout Europe and beyond, and to increase benefit to patients, clinicians and R&D Solution Providers, a series of support activities are planned. These include communication and dissemination activities targeting a broad stakeholder and potential customer community, development of training and education material for healthcare professionals and patients, contribution to the development of a new standard for NGS-based diagnostic workflows, health economic assessment and engagement with healthcare payers and policy makers.
Summary of key achievements:
- Prior Information Notice published on December 28th 2020
- Open Market Consultation launched on March 22nd-23rd 2021
- Contract Notice has been drafted and was published on the TED portal on October 19th 2021. Solution Providers are invited to submit their tenders for all 3 PCP phases in context of a single call by December 19th 2021.
• At the end of this PCP two integrated and standardized NGS workflows should be available covering all steps from the patient (collection of biological samples) to the patient (reporting of results and support of therapeutic decision making at the bedside) based on a several highly innovative solutions.
• Furthermore, addressing panel-based sequencing platforms as well as whole exome or whole genome sequencing is particularly important for rare cancers, but also paves the way for new regulatory pathways for in vitro diagnostic medical devices (IVDs) based on whole exome and whole genome sequencing
• Another major impact is expected by integrating cancer gene testing with pharmacogenomics information. Although the scientific evidence and the benefit of pharmacogenomics testing on drug prescription and health outcomes is well established, pharmacogenomics testing is still not widely implemented in medical routine diagnostics.
• The strong emphasis on standardization and quality assurance has the potential to markedly reduce the current error rate found in medical diagnostics. Therefore, improvement of diagnostic performance will be a substantial contribution to increasing patient safety and health outcomes.
• In order to increase the market opportunities beyond the Buyers group for the solutions developed within the PCP, a variety of supportive activities are performed which includes proactive dissemination of results to the >200 leading European cancer hospitals that are associated or collaborating with the Instand-NGS4P consortium, presentation to the global network of directors of national cancer institutes, active participation of patient advocacy groups to widely inform patients, development of education and training materials, engagement with regulators and standardization organizations, health economic assessment and engagement with health policy makers and payers.
• Furthermore, addressing panel-based sequencing platforms as well as whole exome or whole genome sequencing is particularly important for rare cancers, but also paves the way for new regulatory pathways for in vitro diagnostic medical devices (IVDs) based on whole exome and whole genome sequencing
• Another major impact is expected by integrating cancer gene testing with pharmacogenomics information. Although the scientific evidence and the benefit of pharmacogenomics testing on drug prescription and health outcomes is well established, pharmacogenomics testing is still not widely implemented in medical routine diagnostics.
• The strong emphasis on standardization and quality assurance has the potential to markedly reduce the current error rate found in medical diagnostics. Therefore, improvement of diagnostic performance will be a substantial contribution to increasing patient safety and health outcomes.
• In order to increase the market opportunities beyond the Buyers group for the solutions developed within the PCP, a variety of supportive activities are performed which includes proactive dissemination of results to the >200 leading European cancer hospitals that are associated or collaborating with the Instand-NGS4P consortium, presentation to the global network of directors of national cancer institutes, active participation of patient advocacy groups to widely inform patients, development of education and training materials, engagement with regulators and standardization organizations, health economic assessment and engagement with health policy makers and payers.