Colloquium: Moving polygenic score analysis into clinical practice

vrijdag 08 juli 2022 13:30 - 14:30

Colloquium research group Community Genetics :

Moving polygenic score analysis into clinical practice

Sowmiya Moorthie PhD, Senior Policy Analyst at PHG Foundation, Cambridge, United Kingdom

Polygenic risk scores have been around for a long time. From the initial hype following the first wave of genomic discoveries in the early 2000, PRS are maturing into potentially useful tools to prevent complex common diseases. In Europe, several countries have been investing heavily in infrastructures that could facilitate the transition of PRS from R&D to the clinic. However, discussion still continues as to whether polygenic scores (PGS) are a useful biomarker and the readiness of polygenic score analysis for incorporation into clinical and public health practice. Drawing on a wide-ranging programme of policy research, this talk will outline challenges that need to be considered and addressed to support responsible implementation of polygenic score analysis. Our research and analysis has included examining the concepts of clinical utility and validity in relation to PGS analysis, delving into research within the spheres of cancer and cardiovascular disease and considering integration of such technologies into the NHS Health Check programme. By taking a pragmatic and multidisciplinary approach we are able to identify considerations around the evidence needed to demonstrate suitable clinical validity and utility, as well as wider issues that can impact on implementation of polygenic score analysis.

Discussant: Philip Jansen MD PhD, Resident Clinical Genetics, Department Human Genetics, Amsterdam UMC, location VUmc. Postdoctoral researcher Complex Trait Genetics, Vrije Universiteit

Biography: Sowmiya is a Senior Policy Analyst at PHG Foundation where she is responsible for the development and delivery of projects with an epidemiological and scientific focus. Her interest is in effective use of scientific knowledge to improve the health of individuals and populations. Sowmiya works with both local and international experts to identify opportunities for health technology implementation and develop policy for science and public health.

Sowmiya has extensive experience in policy development for science and public health in areas including personalised prevention, whole genome sequencing, congenital disorders, newborn screening and prenatal diagnosis. Sowmiya currently leads the Foundation’s work as part of B-CAST, an EU Horizon 2020 project, carrying out research and analysis to examine the capacity development for personalised breast cancer prevention. She also leads their scientific work on polygenic scores. She is also a research associate with the East of England NIHR Applied Research Collaboration. She works as part of the Population Evidence and Data Science theme contributing to the development, conduct, analysis and implementation of applied population health and care research with a focus on the use of data to improve health.

Sowmiya has a PhD from the University of Cambridge and a Masters in Epidemiology from the London School of Hygiene and Tropical Medicine. She is an associate editor for the Journal of Community Genetics.

Background reading: How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests? | Personalized Medicine (

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