Welcome to part two of this two-part episode on whole-genome sequencing (WGS) in rare disease research and treatment. In part one we discussed the impacts the technology has had on both improving the clinical diagnosis and management of rare diseases and on drug development and basic research studies.This episode goes beyond the technology’s capabilities and into the debates surrounding how, when and why they should be used. What needs to change for the technique to be applied equitably? And how does reality stack up against science fiction in terms of people’s perceptions of ubiquitous WGS?To do this I speak with David Dimmock, Senior Medical Director of the Rady Children’s Institute for Genomic Medicine (CA, USA); Christine Stanley, Chief Director of Clinical Genomics, Variantyx (MA, USA); and Take Ogawa, Vice President of Sales & Marketing at Psomagen (MD, USA). Each of these speakers provides their opinions on the impacts of race, religion and way of life on the application of WGS and how much is too much data.Contents:Introductions: 00:00-02:20Gauging public perceptions of routine WGS 02:20-05:40The role of industry in improving WGS accessibility and capabilities: 05:40-07:35The appropriate use of pre-symptomatic and predictive risk findings: 08:00-11:15Debating the discovery of untreatable diseases: 11:15-12:45The impact of data biases in gene sequencing and the lack of gene references for different populations: 12:45-14:45The impact of religion and lifestyle on ethical considerations in the use of WGS data: 14:45-16:00Dealing with unintended findings or results that impact relatives: 16:00-16:45The value of WGS in pharmacogenomic variant findings and challenging the ACMG59 list: 16:45-19:20Striking the balance between fully utilizing WGS for all potential findings and ensuring maximum participation for all groups: 19:20-22:45Filtering data to avoid exclusion: 22:45-24:10Who owns WGS data? 24:10-25:15Consent conversations: 25:15-26:30Final comments: 26:30-27:15 Hosted on Acast. See acast.com/privacy for more information.

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