Innovation Procurement: Next generation sequencing (NGS) for routine diagnosis

Modern medicine is constantly developing further, looking for novel technologies and possibilities to test new practices. When it comes to diagnostics, next generation sequencing (or NGS) as a novel method can provide insights on a person’s genetic susceptibility to disease, diagnostic information, and predictive indications about treatment outcome while allowing to embrace simultaneously different molecular pathways of disease evolution and to identify actionable mutations in a patient for medical decision and further research. However, the introduction and elaboration of NGS is so far by its cost, the availability of proper NGS tests, and diagnostic errors.

Scope

As a result, the European Commission intends

“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[1] should be considered when relevant. Ethical issues should be addressed”. [1]

Expected Impact

• New NGS platforms and use of NGS tests in routine diagnostics for personalised medicine.
• Accepted new European standards and quality assurance schemes with respect to NGS.
• Strengthening of implementation of personalised medicine and improved clinical decisions and health outcomes for the benefits of patients.
• Contribution to the sustainability of healthcare systems.
• Growth and benefit to the European industry, in particular SMEs.

Note: This article is based on the Horizon2020 Call “Innovation Procurement: Next generation sequencing (NGS) for routine diagnosis”

References

[1] European Commission: Horizon2020 Call “Innovation Procurement: Next generation sequencing (NGS) for routine diagnosis”