Podcast: Nothing about me without meThe importance of involving patients in genomic research – Genetic Literacy Project

In this episode of Genetics Unzipped, recorded at the recent Festival of Genomics in London, Kat Arney finds out why its so important to make sure that both academic and commercial research studies are done with rather than on participants.

Research into genetic conditions relies on information from patients and their families, whether thats detailed health records or genomic data. As the tools and techniques for DNA and data analysis become cheaper and more organisations get in on this fast-growing field, its vital to make sure that the most valuable research resource human lives doesnt get overlooked in the rush.

Fiona Copelandis the chair of a support group for UK families affected by primary ciliary dyskinesia or PCD a rare genetic condition that affects the lungs and is the mother of two adult sons with the condition. Shes spent many years acting as a patient representative, engaging with academic and industry scientists looking to involve PCD patients in research into understanding and treating the condition. She explains what her role involves and shares her advice for how researchers can engage and involve patient groups more effectively. Her top tip? Dont make children cry!

Next Arney speaks with Patrick Short. Hes the CEO of Sano Genetics a Cambridge-based startup that aims to connect researchers with patients who want to take part in genomic research. While some companies using patients in research have come under scrutiny for poor handling of data and ethical compliance, Short is keen to help organizations do better and drive change in the fast-growing commercial genomics sector.

Finally, we hear from Shelley Simmonds, a disability rights campaigner and rare disease advocate whose son Fraser was initially given a diagnosis of Duchenne Muscular Dystrophy as a baby. When Fraser didnt seem to be progressing as might be expected for a child with the disease, she and her family got involved in Genomics Englands 100,000 Genomes Project in search of clarity but things turned out not to be quite so simple. Shelley talks what happens when the question Whats wrong with my child? has no answer.

Full transcript, links and references available online atGeneticsUnzipped.com

Genetics Unzippedis the podcast from the UKGenetics Society,presented by award-winning science communicator and biologistKat Arneyand produced byFirst Create the Media.Follow Kat on Twitter@Kat_Arney,Genetics Unzipped@geneticsunzip,and the Genetics Society at@GenSocUK

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Podcast: Nothing about me without meThe importance of involving patients in genomic research - Genetic Literacy Project