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SUMMARY:LMB Seminar Series - The 100\,000 genomes project and beyond - Tim
  Hubbard\, Professor of Bioinformatics &amp\; Head of Department\, King’
 s College London
DTSTART:20190523T150000Z
DTEND:20190523T160000Z
UID:TALK116653@talks.cam.ac.uk
CONTACT:72112
DESCRIPTION:The 100\,000 genomes project set out to mainstream whole genom
 e sequencing for treatment into the NHS. Genomics England\, set up in 2013
  to deliver the project\, established sequencing and interpretation pipeli
 nes to enable whole genome sequences to be analysed for rare diseases and 
 cancer patients with individual reports returned to clinicians. In paralle
 l\, NHS England set up a national network of NHS Genome Medicine Centres i
 nvolving more than 80 hospitals to identify and consent eligible patients 
 with unmet clinical need and delivering samples for sequencing with associ
 ated clinical data. Partnerships with the Scottish Genomes Partnership\, N
 HS Wales and Health and Social Care in Northern Ireland have ensured patie
 nt access across the whole UK. The target of 100\,000 genomes sequenced wa
 s reached in December 2018 at which point individual interpretation report
 s had been returned to the NHS for half of those genomes. Whole genome seq
 uencing is now part of standard commissioned health care through the creat
 ion of the NHS Genome Medicine Service which is targeted to generate anoth
 er 500\,000 whole genomes for clinical care over the next 5 years. This is
  in addition to the 500\,000 whole genomes of UK biobank participants plan
 ned over the same period.\n\nThe secure\, scalable high performance-comput
 ing environment where all data processing takes place is located within th
 e NHS firewall\, but is also configured to support research. It is current
 ly accessible by more than 1\,500 researchers who are members of the Genom
 ics England Clinical Interpretation Partnership (GeCIP). Researchers are o
 rganised into domains around disease or computational area. The environmen
 t contains a rich set of clinical data (more than 1 billion data points) i
 ncluding the longitudinal electronic health record of each participant\, a
 long side genome sequence and variant files with a full set of tools to en
 able research.\n\nThe construction of a dual use data environment within a
  health system provides a model for future translational human research. I
 t allows researchers to move beyond analysis of cohorts of research subjec
 ts of limited size to analysis of patient data from whole health systems w
 hile respecting data privacy\, allowing comorbidities and longitudinal hea
 lth data to be better taken into account. It also provides a model for ini
 tiatives around other health data types\, such as the newly announced Inno
 vateUK Imaging\, Pathology and AI centres and Health Data Research UK. I w
 ill discuss the progress of these projects and their impact on health rese
 arch and personalised medicine in the UK.\n
LOCATION:Max Perutz Lecture Theatre\, Medical Research Council (MRC) (MRC 
 Laboratory of Molecular Biol
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