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Are polygenic scores "ready for primetime"?: In which diseases might they be useful?

December 7, 2023 5pm BST

Chair : Ewan Birney FRS (Sanger Institute)

Clare Turnbull MD PhD (Institute of Cancer Research, London)

Paul Pharoah MD PhD (Cedars-Sinai, Los Angeles)

Anneke Lucassen MD DPhil (Nuffield Dept of Medicine, Oxford)

Raghib Ali, MD (Cambridge University)

Aroon Hingorani PhD (University College London)

Sir Peter Donnelly PhD (University of Oxford)

 

It has been proposed that polygenic scores may enable better targeting of interventions for disease prevention and early detection, reducing cost, improving efficiency and extending opportunities into new age groups and even new diseases.  In the UK, the Our Future Health Programme is being rolled out this year in conjunction with NHS England.  This programme will focus specifically on SNP-genotyping and generation of polygenic scores in up to 5 million adult NHS users: patients will be offered opportunity to receive their results.  Are polygenic scores "ready for primetime"?  In which diseases might they be useful? Are additional research studies required? What are the possible harms of PGS-stratified screening/interventions? These questions will be discussed by a distinguished panel of experts chaired by Ewan Birney.

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