Skip to main content
. 2019 Oct 21;22(3-4):77–101. doi: 10.1159/000503296

Table 8.

Overview of the stakeholders in the field of rare diseases

Barriers to integration of genomics into healthcare Stakeholders at the European level Potential action points
Data integration and interpretation Elixir, BBMRI, bioinformatics research institutions Integration, aggregation, and analysis of existing genomic datasets at the European level
Oversight of the collection and analysis of new genomic data at the European level

Workforce capacity and capability European medical universities, medical schools, academic hospitals Integration of genomics and principles of personalised healthcare inside of the medical, nursing and healthcare curriculums
Introduction of career-long education programmes regarding personalised healthcare and genomic medicine for practicing professionals

Public acceptability and government engagement National, local, and regional governments at the member state levels
European Union
Introduction of outreach methods for the general public

Paucity of evidence for clinical utility Research centers and funding institutions Support and grants for studies aimed at producing clinical evidence

Cost-effectiveness HTA institutions, healthcare payers More transparency, data sharing, and exchange of best practices to support reimbursement of personalised healthcare and genomic technologies

Ethical and legislative issues EU and country-level legislators, patient organizations, medical-ethical committees Development of model for ethical guidance and coordination of personalised healthcare activities Compilation of rigorous ethical standards and best practices to support roll-out of genomic technologies