We are Genomics England and our vision is to create a world where everyone benefits from genomic healthcare. Introducing our refreshed podcast identity: Behind the Genes, previously known as The G Word. Join us every fortnight, where we cover everything from the latest in cutting-edge research to real-life stories from those affected by rare conditions and cancer. With thoughtful conversations, we take you behind the science. You can also tune in to our Genomics 101 explainer series which breaks down complex terms in under 10 minutes.
Episodes
Wednesday Sep 01, 2021
Dr Hilary Martin: Diversity and data
Wednesday Sep 01, 2021
Wednesday Sep 01, 2021
“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.”
In this week’s episode of The G Word #sciencepodcast, Rich Scott is joined by Dr Hilary Martin, 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.
Today Hilary talks 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.