By Dr. Nick van Terheyden aka Dr. Nick
Twitter: @drnic1
Host of Dr. Nick: The Incrementalist – #TheIncrementalist
On this episode I talked to James Lu, M.D. Ph.D., President, co-founder of Helix (@my_Helix), an end-to-end population genomics platform. Dr Lu has an interesting background with a PhD in genomics working with Robert Gibbs from Baylor College of Medicine and worked in the Machine learning laboratory at Duke. Even in the early days of sequencing it was challenging to capture data and integrate it into the healthcare system to make it useful and this challenge formed part of the early ideas for Helix.
Episode NOW on Demand
We delve into gene sequencing, the fact this data set does not change over time (and we talk about how it might as well) and detail why genes are not determinist but rather influencers of disease since most genes are probabilistic versus binary in effect.
As genome sequencing became more widespread and economical our gene reading capabilities improved dramatically and Helix not only manages the data generation but importantly decouples this from the data usage. Getting to the first and only FDA Authorization for a Whole Exome Sequencing Platform which was driven in part by this decoupling and allows for additional use cases over time of the data as we learn and understand more.
Learn how they achieved their progress by building proof points including this recently published paper focusing on 3 diseases: Population genetic screening efficiently identifies carriers of autosomal dominant diseases, understanding what is impactful and can have a positive influence on patient outcomes.
Listen in to hear their incremental steps to create a digital resource library and manage physician workflow effectively and how they have been working their systems 24/7 in support of the COVID19 effort, identifying 50 cases of variants in the USA and correctly predicting the rise of Variants of Concern (VoC) in particular the B117 we are seeing now across the country.
About the Show
For years Dr. Nick van Terheyden aka Dr. Nick, has served as a voice on the impact of new technologies on healthcare, earning a reputation as a leading authority on where the future of medicine is going. Combining powers of observation and real world experience, Dr. Nick has seen many predictions come true and makes the case that innovations in healthcare can be accomplished incrementally, not just by moonshot events. Tune in to hear Dr. Nick: The Incrementalist and his guests discuss what the future of healthcare looks like, how we will get there, and what it will take to improve healthcare for all.
This article was originally published on the Dr. Nick – The Incrementalist blog and is republished here with permission.