This document summarizes a presentation about the progress and future of genomic medicine in the UK. It discusses:
1) The achievements of the 100,000 Genomes Project, including over 122,000 samples collected and over 83,000 genomes sequenced, with 20-25% of rare disease cases and around 50% of cancer cases having potential treatment implications.
2) The vision to expand to sequencing 5 million genomes in the UK over the next 5 years, including expanding the Genomes Project to 1 million genomes and making whole genome sequencing available for all seriously ill children and rare disease/cancer patients through the NHS.
3) The implications for NHS patients, including a new Genomic Medicine Service and consent being sought
GenBio2 - Lesson 1 - Introduction to Genetics.pptx
Demystifying Genomics for Patient Registries
1. Demystifying Genomics for Patient
Registries
Jillian Hastings Ward
Chair, Participant Panel
@HastingsJ123 Sano Genetics, 11th
July 2019
2. Today’s conversation
•What the 100k project has achieved: where we are today
•Towards 5m genomes
•First steps: implications for NHS patients
•Opportunities and challenges presented by genomic medicine
209 July 2019
3. My story
•Parent of severely disabled son
•Signed up for 100,000 Genomes Project after all other
test results negative
•Participant Panel founded in April 2016
•Positive diagnosis via project in autumn 2017: GRIN1
gene mutation
•Now part of worldwide network of GRIN families
•Board member for CureGRIN: seeking treatments and
cures
309 July 2019
4. 409 July 2019
100,000 Genomes Project: progress to date
Figures as at 21/06/2019
Samples
122,669
Samples collected and
received at the UK
Biocentre
Genomes Analysis and Results
genomes sent to NHS GMCs
91,281Results for
Equivalent to
cancer genomes and 67,450
rare disease
85,956
36,713
+4,575
genomes
since 1 May
• 20-25% actionable findings
for Rare Disease
• ~ 50% cancer cases contain
potential for a therapy or a
trial in our report
Genomes sequenced
83,761
113,022
29,261
23,831
5. Participants at the heart of it
509 July 2019
Helping to improve
patient experience
Whole genomes
Healthcare data
Overseeing use of
patient data
Research results
Individual tests
Working to maximize
patient benefit
Listening to patients, reporting
concerns to Genomics England
EAC
ARC
GeCIP Board
Discovery Forum
Contributing to
national genomics
policy
Contributing to
public discourse on
genomics
6. Moving forward: UK genomics vision
609 July 2019
UK will be a
global leader in
genomics and
precision
medicine
Expansion of the 100,000 Genomes Project to one million
whole genomes sequenced by the NHS and UK Biobank in
the next five years
On 2 October 2018, Secretary of State for Health and Social Care Matt
Hancock announced an ambitious vision for genomic healthcare in the UK
From 2019, the NHS will offer whole genome analysis for
all seriously ill children with a suspected genetic disorder,
including those with cancer. The NHS will also offer the
same for all adults suffering from certain rare diseases or
hard to treat cancers
An aspiration to sequence 5 million genomes in the UK
within the next five years
7. The strategic aspiration
•500,000 whole genomes through the NHS Genomic
Medicine Service - plus other genomic tests
•500,000 Biobank whole genomes through upgrade of
UK sequencing
•Whole genome sequencing of strategic cohorts
(unmet needs and long term value to the healthcare
system)
•Research cohort sequencing (whole genome and other
genomic tests) funded by current and future funding
•Exploring feasibility of a programme for self-paying
volunteers who wish to be early adopters of genomic
analysis
709 July 2019
8. Implications for NHS patients
•Genomic Medicine Service goes live across England very soon
•Test Directory of rare conditions that will now qualify for Whole Genome
Sequencing
•Consent will be sought by clinicians for clinical and research purposes
•Clinical data will reside within NHS computer system
•For patients who consent, research data will be added to the Genomics
England database for wider use (subject to same scrutiny and controls as
100k participant data)
•Many other tests also available (e.g. CGH Array, panel and exome testing,
single gene tests) but these remain the responsibility of local genomic
testing centres
809 July 2019
9. Challenges and Opportunities
•Sheer volume of data: research utility – how to maximise the benefit of
collecting it all? Must balance between security and utility
•Massive scope for new learning, greater differentiation between patients
previously thought to have the same condition -> clinical utility in short
term, plus setting scene for further research
•The question of actionability: when should results be returned to patients
and their families?
•Where is the line between what should and should not be included in
health records and/or shared with individual patients / family members?
•The need for support post diagnosis: many more questions – increasing
demand for genetic counsellors
909 July 2019