UMC Utrecht Prediction Meetings

Meeting link: Click here for the meeting in Teams

Sowmiya Moorthie

Abstract: My work at PHG Foundation is looking to understand how genetic test and prediction model evaluation frameworks can be applied to polygenic score analysis and integrated risk models/tools. 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 We recently completed a report on polygenic scores and clinical utility. We are currently exploring the properties of and assessment of clinical validity and considering how this applies to tests based on polygenic score analysis (either standalone or as part of integrated risk assessment). In this talk, I will give an overview of the work and findings of our multidisciplinary approach to identify key considerations around the evidence needed to demonstrate suitable clinical validity and utility, of risk prediction models, using PGS as an exemplar.

Biography: Sowmiya is a Senior Policy Analyst at PHG Foundation where she is responsible for the development and delivery 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 has led 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.