Ilaria Galasso, PhD - University College Dublin
In this paper we scrutinize emerging public involvement practices as a response to the major ELSI challenges around precision medicine and genetics research. Many concerns, barriers and unfulfilled potentials for benefiting individuals and populations remain around the growing variety of existing genetics initiatives. At the same time, the emerging phenomenon of Public and Patient Involvement (PPI) has potential to lead the way to a more democratic approach that could facilitate harnessing genetics innovation to the equitable pursuit of the public good by letting the concerned actors themselves express their interests and needs. We analyse and compare, through secondary data analysis and interviews, leading genetics initiatives including national research cohorts such as the All of Us Research Program in the US and the 100,000 Genomes Project in the UK; and consumer genetic testing companies such as 23andMe, AncestryDNA, MyHeritage. We focus specifically on the variety of PPI practices made available by or raised around them, and argue that two aspects of PPI are crucial for a democratic approach with equitable capacities in genetics research: inclusiveness (the actual inclusion in the decision making of all social groups, including minorities) and effectiveness (the actual capacity to translate deliberation into action, as opposite to tokenism). We scrutinize these aspects across different PPI practices – differentiable along different vectors – by aiming to promote the approaches, or combinations of approaches, that are most suitable to overcome existing challenges and foster equitable outcomes in genetics research.