CINECA Challenge 5: Trans-national Harmonised ELSI Framework

Ethical, Legal and Social Implications (ELSI) issues represent a significant challenge for the research community. For individuals to benefit from personalised medicine approaches beyond a specific region or country we must address ELSI barriers to discovering and accessing data. There is little use in applying the FAIR principles (Findable, Accessible, Interoperable and Reusable) if data cannot be widely shared within an effective ethical, legal social framework which adheres to national and European regulations, and respects the rights of the participants. As we move to a world where genomic data moves closer to healthcare, then the sharing of these data becomes more, and not less challenging. The data are typically much larger than is usually present in an electronic Health Record (eHR) and sharing safely is an imperative to enable personalised medicine’s promise to be realised.

The rare disease community has made significant efforts driven by the need to diagnose affected individuals at very low frequencies in any one country’s population; tools like Matchmaker Exchange have led the way in providing solutions where patients can be matched across borders. CINECA will now leverage these approaches and extend these to full federated analyses. The ELSI work in this project operates in a truly international context, we address challenges across Canada, Europe and the 27 African countries represented in the H3Africa project by selection of a diverse set of cohorts.

African populations are critical to understanding human evolution and the structure of the human genome, but are underrepresented in genetic analyses a recent publication having estimated that only 20% of individuals in genome wide association studies (GWAS) were not of European descent, and the 1000 genomes project represented only seven African populations. By inclusion of H3Africa we not only address under representation of African genetic data worldwide, we also extend the collaboration to Africa and enhance the global take up of the project outputs. African genetic data is also key to deciphering genetic disease in countries with African populations as well as in Africa, for example African Americans have increased cardiovascular risk factors when compared with other ethnic groups which may be explained by genetic causes[1]. H3Africa has invested effort into standards and data harmonisation, but the consortium stands to benefit from the expertise of CINECA project partners, and implementation of the standards and tools produced by the project will ensure that responsible and ethical use of the data can benefit African populations world-wide.

[1] Carnethon MR, et al, 2017. Cardiovascular Health in African Americans: A Scientific Statement From the American Heart Association. doi:10.1161/cir.0000000000000534. PMID: 29061565.