Diversity of genomic data & polygenic risk scores

Hilary Martin, Wellcome Sanger Institute




“In most countries where there's large scale funding, ethnic minority populations are, by definition, minorities. And so in order to collect enough ethnic minority data in the given healthcare system, you really have to oversample those people. And in order to do that you need to have good public engagement programmes to persuade them to participate and to reassure them that you're going to look after their data responsibly.”

Dr Hilary Martin is a group leader at the Wellcome Sanger Institute with a PhD in Human Genetics from Oxford University. Hilary’s research focuses on exploring genetic architecture in the Deciphering Developmental Disorders (DDD) study, with a particular focus on the role of rare recessive variants and polygenic risk.  


On this podcast, Hilary joins Dr Richard Scott, Clinical Director at Genomics England to talk about the diversity of genomic data, working with British Pakistani populations and consanguinity. She also discusses polygenic risk scores and the Deciphering Developmental Disorders (DDD) study. 



 

Dr Hilary Martin is a group leader at the Wellcome Sanger Institute with a PhD in Human Genetics from Oxford University. Hilary’s research focuses on exploring genetic architecture in the Deciphering Developmental Disorders (DDD) study, with a particular focus on the role of rare recessive variants and polygenic risk.