D4.2 Literature Gap Analysis Review

INTEGRATE-LMedC Deliverable D4.2 (part of WP4) provides a strategic gap analysis of how European and national research infrastructures currently support large medical cohorts (LMedCs) across their full lifecycle—from design and implementation to long-term operation and data reuse. Rather than presenting only an inventory of services, it aims to diagnose systemic weaknesses in the European cohort-support ecosystem and use that evidence to inform a more coherent, efficient, and sustainable infrastructure landscape in Europe. Using a mixed-methods approach (mapping of service providers, interviews with service users, a scoping literature review, and a multi-stakeholder validation workshop), the analysis organises needs and gaps into five service clusters: data services; regulatory/ethical support; methodology/design; biobanking and omics; and operational coordination. Across these clusters, stakeholders prioritise persistent, cross-cutting issues such as data standardisation and interoperability, metadata quality and discoverability, data quality/completeness, inconsistent ELSI/GDPR implementation across jurisdictions, and weaknesses in recruitment/retention, biobanking/omics QA/QC, workforce capacity, and protocol registration/feasibility practices. The document’s central message is that Europe already has many capable infrastructures, but service provision remains fragmented, difficult to navigate, and insufficiently coordinated at scale. Its recommendations therefore emphasise harmonisation and integration—sustainable funding, regulatory alignment, improved standards and metadata, stronger methodological transparency, expanded federated/privacy-preserving analysis capacity, improved omics quality and representativeness, and better operational support—arguing that most gaps can be bridged by coordinating existing providers into a clearer, user-friendly, end-to-end service package rather than building entirely new infrastructures.