Genomics England: Challenges in delivering an NHS genomic future

** All attendees must obtain a free ticket on eventbrite **
https://www.eventbrite.co.uk/e/london-clinical-data-science-meetup-genomics-england-tickets-85991479831

Please join us for the London Clinical Data Scientists Meet-up! We welcome everyone with an interest in data science, and its applications in health care!

In partnership with NHS England, Genomics England’s ambitious plans to embed genomic medicine into routine patient care are well underway. In October 2018, the UK Secretary of State for Health and Social Care announced a plan to sequence 5 million genomes within five years. Notably, each genome can be composed of billions of nucleotides stored as plain text files in gigabytes (GBs). It is undeniable that these data impose unprecedented challenges.

We welcome two exciting speakers on this topic: Kevin Savage - a Data Scientist and Software Engineer in the Bioinformatics group at Genomics England; and Antonio Rueda-Martin, Head of the Interpretation Platform at Genomics England.

Both Kevin and Antonio will tell us how Genomics England have overcome some of the challenges involved with Genomic data and how they plan to deliver the Genomic future planned for the NHS.

Agenda:
1830 Pizza
1900 Talks and discussion
2030 Wrap up/Move on to the pub!

Venue:
IQVIA, 210 Pentonville Road, N1 9JY, London

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Abstract
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One of the main goals of Genomics England is to produce reliable results that clinicians can translate into diagnosis. The analysis of each genome in Genomics England is done in a consistent and reproducible manner, which enabled Genomics England to scale up to thousands of genomes analysed per week.

This presents some problems:

1. How to create one single process able to cope with many different scenarios for disorders which vary so wildly such as rare diseases and cancers?
2. How to present that amount of results in a way that is digestible by clinicians and other experts?
3. How to create a system that learns from previous results and keeps itself up to date?
4. How to store genomic variants and findings associated to variants in a consistent and scalable way?

In this talk the speakers will address these questions while guiding you through the Genomics England Interpretation Platform, the system that facilitates the interpretation of the cases in Genomics England, stores and serves the results.
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Look forward to seeing you there!

** All attendees must obtain a free ticket on eventbrite **
https://www.eventbrite.co.uk/e/london-clinical-data-science-meetup-genomics-england-tickets-85991479831