The European health data space: Too big to succeed?

In May 2022, the European Commission issued the Proposal for a Regulation on the European Health Data Space (EHDS), with the aims of granting citizens increased access to and control of their (electronic) health data across the EU, and facilitating health data re-use for research, innovation, and policymaking. As the first in a series of European domain-specific "data spaces", the EHDS is a high-stakes development that will transform health data governance in the EU region. As an international consortium of experts from health policy, law, ethics and the social sciences, we are concerned that the EHDS Proposal will detract from, rather than lead to the achievement of, its stated aims. We are in no doubt on the benefits of using health data for secondary purposes, and we appreciate attempts to facilitate such uses across borders in a carefully curated manner. Based on the current draft Regulation, however, the EHDS risks undermining rather than enhancing patient control over data; hindering rather than facilitating the work of health professionals and researchers; and eroding rather than increasing the public value generated through health data sharing. Therefore, significant adjustments are needed if the EHDS is to realize its promised benefits. Besides analyzing the implications for key groups and European societies at large who will be affected by the implementation of the EHDS, this contribution advances targeted policy recommendations to address the identified shortcomings of the EHDS Proposal.

An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.

PURPOSE: Advanced age-related macular degeneration (AAMD) risk is associated with rare complement Factor I (FI) genetic variants associated with low FI protein levels (termed 'Type 1'), but it is unclear how variant prevalences differ between AMD patients from different ethnicities. METHODS: Collective prevalence of Type 1 CFI rare variant genotypes were examined in four European AAMD datasets. Collective minor allele frequencies (MAFs) were sourced from the natural history study SCOPE, the UK Biobank, the International AMD Genomics Consortium (IAMDGC), and the Finnish Biobank Cooperative (FINBB), and compared to paired control MAFs or background population prevalence rates from the Genome Aggregation Database (gnomAD). Due to a lack of available genetic data in non-European AAMD, power calculations were undertaken to estimate the AAMD population sizes required to identify statistically significant association between Type 1 CFI rare variants and disease risk in different ethnicities, using gnomAD populations as controls. RESULTS: Type 1 CFI rare variants were enriched in all European AAMD cohorts, with odds ratios (ORs) ranging between 3.1 and 7.8, and a greater enrichment was observed in dry AMD from FINBB (OR 8.9, 95% CI 1.49-53.31). The lack of available non-European AAMD datasets prevented us exploring this relationship more globally, however a statistical association may be detectable by future sequencing studies that sample approximately 2,000 AAMD individuals from Ashkenazi Jewish and Latino/Admixed American ethnicities. CONCLUSIONS: The relationship between Type 1 CFI rare variants increasing odds of AAMD are well established in Europeans, however the lack of broader genetic data in AAMD has adverse implications for clinical development and future commercialisation strategies of targeted FI therapies in AAMD. These findings emphasise the importance of generating more diverse genetic data in AAMD to improve equity of access to new treatments and address the bias in health care.