Beyond the Medical: The ELSI of Polygenic Scores for Social Traits

7. PROJECT SUMMARY/ ABSTRACT
In traditional predictive genetic testing single gene variants are analyzed to determine whether an individual is
at high risk of developing a disease. The vast majority of diseases, however, are polygenic—caused by many
different genes. Polygenic risk scores (PRS) have been heralded for their promise to predict risk for these more
complex diseases like heart disease or diabetes by measuring the contribution of hundreds or thousands of
genetic variants at once. Yet beyond prediction of health or medical outcomes, the realm of `sociogenomics' is
developing polygenic scores (PGS) measuring genetic contributions to social traits and behavioral factors, such
as income, educational attainment, sexuality, and optimism. Proponents of sociogenomic PGS cite the
potential for this research to increase understanding of the interplay between genetic and environmental
factors, to account for genetic factors in social science research, and to create personalized social interventions
akin to personalized medicine. But others worry that sociogenomic PGS findings could lead to discrimination
and an exacerbation of existing social disparities. In order to understand the ethical, legal, and social
implications of sociogenomic PGS research and its outcomes, this project addresses the following research
questions: 1) What are the current trends in the development of sociogenomic PGS and what are the possible
applications of scores in social settings?; 2) How do various stakeholders perceive the benefits and risks of
sociogenomic PGS?; and 3) How well do existing laws, policies, or governance protect against the potential
harms of sociogenomic PGS while also promoting their potential benefits? Answering these questions requires
both empirical research and legal analysis. Using horizon scanning methodologies, Aim 1 maps the landscape
of sociogenomic PGS, their potential applications, and how sociogenomic research findings are presented to
and consumed by the public. Aim 2 enlists those involved in the pipeline of sociogenomics research (biobank
participants whose genetic data may be used to develop PGS, PGS researchers who develop the scores, and
social scientists who may use the scores in their research studies) to examine and assess their attitudes toward
the range of harms and benefits of sociogenomic PGS, and the implications of varying applications of PGS.
Both of these efforts will inform Aim 3, which consists of a legal and policy analysis of how current legal rules
protect against potential misuse and/or promote possible benefits of sociogenomic findings. The product of
this project will be a set of case studies designed to help policy makers and researchers anticipate and mitigate
the potential harms of employing sociogenomic PGS in various social settings while still identifying and
maximizing potential benefits.

Grant Number: 5R01HG012402-04
NIH Institute/Center: NIH
Principal Investigator: Rosemary Cadigan