At Genomics England, our vision is a world where everyone benefits from genomic healthcare.
From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science.
Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.
Episodes
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, 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.
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