We observe a progressive shift in routine diagnostics, and more particularly in personalised medicine practice, from a growing number of molecular tests to a next generation sequencing approach (NGS). NGS can provide insights on a person’s genetic susceptibility to disease, diagnostic information, and predictive indications about treatment outcome. It also allows to embrace simultaneously different molecular pathways of disease evolution and to identify actionable mutations in a patient for medical decision and further research. In addition, it requires less sample material than multiple tests and therefore reduces risk and inconvenience for patients. However, the introduction of NGS in clinical practice is hampered by its cost, the availability of proper NGS tests, and diagnostic errors resulting from insufficient quality assurance, technological bias and complex interpretation of data.Scope:
The objective is to implement NGS in routine diagnostics for personalised medicine and scale up demand-driven innovation for healthcare systems. This includes organisational, economical, technical and clinical aspects. It should lead to NGS tests, clinically validated procedures (including sex analysis), quality assurance schemes, tools and methods for data collection, management, analysis and interpretation, with a view to assist clinical decision-making and foster medical research and innovation. Transferability and cloud based NGS data analyses should be considered, as appropriate. Input from initiatives like the EJP Cofund on rare diseases and ERNs should be considered when relevant. Ethical issues should be addressed.
For grants awarded under this topic for Pre-Commercial procurement it is expected that results could contribute to European or international standards. Therefore, the respective option of Article 28.2 of the Model Grant Agreement will be applied.
The Commission considers that proposals requesting a contribution from the EU of between EUR 9 and 11 million would allow this specific challenge to be addressed appropriately. Nonetheless, this does not preclude submission and selection of proposals requesting other amounts.
Proposals of this topic should follow the specific requirements for pre-commercial procurement PCP supported by Horizon 2020 grants as set out in General Annex E of the WP.Expected Impact: