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Genome-wide association studies, polygenic scores and social science genetics: overview and policy implications

Abstract: 

Recent developments in genetics are opening unprecedented possibilities to understand the physical and mental health of individuals. Moreover, with the advent of genome editing techniques it has become possible to introduce subtle changes in the DNA and thus to intervene in the combined sets of traits of an individual, including the curing of certain diseases. In this report we focus on the first part, namely on the understanding and interpretation of the genetic information and its connection with the functionality in the host organism, and we will zoom in on the great wealth of information the reading, analysing and comprehension of the complete DNA sequence across organisms, including humans may provide. However, since this technology is not based on agreed standard methodologies including validated algorithms, a warning is raised with respect to the possibility of misinterpretation and this in turn may have scientific, ethical and thus policy implications. This report analyses how these developments are impacting not only on health through personalised medicine, but also on social aspects of individuals and of human well-being. In particular, among these new applications, it highlights the possible policy implications of genome wide association studies (GWAS), polygenic scores (PGS) and social science genetics, an interdisciplinary research field that studies if and how human behaviour and socio-economic outcomes are influenced by genetic factors. Due to the fact that these developments have the potential to affect many areas of public interest including public health, privacy rights, data security, threats of discrimination, new technologies for forensics, the emergence of new industries and the functioning of markets, schooling, and even direct changes to the human gene pool that can be passed on to future generations, they need to be observed, evaluated and scrutinised. They also raise ethical questions that touch the core of what type of society we want to live in. The purpose of the current report is not to deliver final, definite answers as to which consequences genetics and genomics might have on the society, but to provide unbiased knowledge on the possible policy implications of recent developments in these fields, with a specific focus on GWAS, PGS and social science genetics. Rather, the purpose is: ● to provide an accessible entry point for policy makers and the wider public to understand the goals and tools of these developments, ● to track the progress of the field until now, ● to identify areas that are potentially relevant from a public policy perspective, ● to open a dialogue between scientists, policy makers, and the general public about how to move forward. It is also not intended with this report to extensively discuss in detail the possible applications of the technology. In the medical field, there is still some resistance to act on the basis of the results of genome analysis through the polygenic risk score (PRS), even in cases of 'high risk' patients, and there is an ongoing debate with respect to the level of evidence required prior to a routine introduction of the approach for personalised care. Here, we will exclude these discussions from the scope of the report. This report links, more generally, to the ongoing activities within the European Commission Joint Research Centre (JRC) on eHealth and Big Data, both related to the implementation of the EC Digital Single Market strategy. It is complementary to the 2018 JRC Science for Policy Report Overview of EU National Legislation on Genomics , a mapping of existing national legislations linked to genomics aimed to be used as a baseline for the analyses of possible consequences for EU policies already in place, and to forecast policy gaps and eventual interventions.