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13 J.L. & Biosciences 1 (2026)

handle is hein.journals/jlbsc13 and id is 1 raw text is: 


Journal of Law and the Biosciences, lsaf016
https: //doi.org/ 10.1093/jlb/lsaf016
Original Article




        Polygenic disease risk scoring and

              genetic non-discrimination


    Jin K.  Park', Susannah Baruch2 and I. Glenn Cohen i;3*


                1Yale Law School, 127 Wall Street, New Haven, CT 06511, United States
 2Petrie-Flom Center for Health Law Policy, Biotechnology, and Bioethics at Harvard Law School, 23 Everett St,
                             Cambridge, MA 02138, United States
           3Harvard Law School, 1525 Massachusetts Ave, Cambridge MA 02138, United States
                     *Corresponding author. E-mail: igcohen@law.harvard.edu


                                    ABSTRACT
          The Genetic  Information Nondiscrimination Act (GINA)   became  law
          almost two decades ago, when genomic medicine was stillin its infancy. One
          reason for its passage was to ensure that individuals and society would reap
          the benefits of emerging advances in genetic medicine, and would be able
          to benefit from genetic testing and research without fear of employment or
          health insurance discrimination. Since then, genomics has matured into a
          complex probabilistic science that increasingly allows for individualized
          estimates of genetic risk derived from large-scale population studies.
          Polygenic risk scores (PGSs), which  provide genome-wide   estimates
          of disease liability and may help indicate effective preventive care for
          an individual, raise new benefits but also concerns. PGS testing may
          become  common   in clinical practice, particularly to mitigate common
          complex diseases such as cardiac conditions and cancer. But are existing
          antidiscrimination protections adequate for a world where polygenic risk
          scoring is the norm? In this paper, we consider how existing laws apply and
          whether newlegal and policy approaches are needed to support widespread,
          beneficial clinical use of PGSs. We also propose avenues for potential action
          by policymakers.

          KEYWORDS: genetic   discrimination, polygenic risk scores, GINA, ADA


                                I. INTRODUCTION
We  are now  witnessing  a proliferation of scientific efforts that take full advantage of
human   genetic variation to elucidate the genetic architecture of complex diseases and
phenotypes,  the most prominent   of which is the practice of polygenic disease risk scor-
ing, which provides  genome-wide   estimates of disease liability. The development and

© The Author(s) 2026. Published by Oxford University Press on behalf of the Duke University School of Law,
Harvard Law School, Oxford University Press, and Stanford Law School. This is an OpenAccess article distributed
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