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Expert Q&A Dr. Euan Ashley

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Euan Ashley is Associate Professor of Medicine, Genetics and Biomedical Data Science at Stanford University. He is director of the Center for Inherited Cardiovascular Disease, the Clinical Genomics service and the Stanford Data Science Initiative. In 2010, he led the team that carried out the first clinical interpretation of a human genome. He also leads the MyHeart Counts team that collects cardiovascular risk data through an iPhone app. He is co-founder of Personalis and DeepCell.

What factors limit the solve rate of rare and undiagnosed diseases to 30-40%? For example, would deeper or more complete sequencing (e.g. whole genome instead of exome sequencing) help? Do we lack the ability to interpret noncoding sequence?

Answered on Aug 17

What kind of information to predict the cardiovasular risk by using smart phone app?

Answered on Aug 17

I would love to know what you think of emerging technologies such a Optical Mapping (Bionano) to help further the understanding of Diseases given their "observed" view of the genome and large SV's. It seems like a great complement to existing techniques and might have an important role for Precision medicine

Answered on Aug 17

With genome sequencing increasing being used to enable precision medicine treatments, are educational efforts needed to provide a baseline understanding of genetics.

Answered on Aug 17

Given the discordance in variant interpretations between labs submitting to ClinVar, what steps can be taken to reduce different interpretations and ensure that patients are given accurate information?

Answered on Aug 17
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