“My genome: our future”

Setting the stage

Brussels

12th February 2019

The 100,000 Genomes Project

• The 100,000 Genomes Project was launched in December 2012 with the declared intention of giving the UK the world leading infrastructure for genomic medicine

• The first goal was to sequence 100,000 genomes from NHS patients and their families, focusing on those with rare diseases or common cancers

• The aims of the project:

• To bring benefit to patients

• To enable new scientific discovery and medical insights

• To stimulate industrial and scientific investment

• To build public support

• Genomics England was created in 2013 to deliver the project

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How the 100,000 Genomes Project works

• 13 NHS Genomic Medicine Centres covering England

• Responsible for identifying and recruiting participants and for clinical care following results

• Northern Ireland, Scotland and Wales have joined

GEP HEI x10

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We did it!

Samples

118,489Samples collected

and received at the

UK Biocentre

Genomes Analysis and Results

genomes sent to NHS GMCs

56,622Results for

Equivalent to

cancer genomes and

42,472 rare disease85,662

32,827

+50,000Genomes since

last February

20-25% actionable findings for Rare

Disease

Genomes sequenced

79,834

103,311

23,477 14,150

Access to linked Real World Data

✓✓✓✓Mortality

data

✓✓✓✓ Hospital Episode

Statistics

Digital pathology

data ✓✓✓✓

Primary

prescribing data…

Secondary

prescribing data…

✓✓✓✓ Genome

data

✓✓✓✓ Enrolment

data

Secondary

health records…

Wearables?

Social media?

Primary

health records…

✓✓✓✓ Genetic

diagnosis data

✓✓✓✓ Biobank

data

EHR

GP

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What are we telling

participants?

• Information about a patient’s main condition

• Information about additional ‘serious and actionable’ conditions (optional)

• Carrier status for non affected parents of children with rare disease (optional)

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Image courtesy of Health Education England

Promoting ethics and transparency

• Patient involvement - the National Participant Panel

• Ensure the interests of participants are always at the centre of the Project.

• Broad consent for translational research

• Oversight of who should have access to participant data

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Discovery

Forum

Ethics

Advisory

Committee

GeCIP

Board

Access

Review

Committee

Participants

Socialising the genome….

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From this

Socialising the genome….

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To this:

“You can look at the books or fishes but you cannot take them away with you”

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Chief Medical Officer’s report – Generation Genome

From 100,000 to 5 million

1115 February 2019

Health and Social Care Secretary Matt Hancock said:“I’m proud to announce we are expanding our 100,000 Genomes Project so that one million whole genomes will now be sequenced by the NHS and the UK Biobank.

I’m incredibly excited about the potential for this type of technology to improve the diagnosis and treatment for patients to help people live longer, healthier lives – a vital part of our long-term plan for the NHS.

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.

Today’s commitments form part of our bold aspiration to sequence 5 million genomes in the UK, using ground-breaking technology to do this within an unprecedented 5-year period.”

Genomic volunteers….

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“….Genomics England will undertake detailed development work on a new service to enable genomic volunteers to pay for a personalised report on their unique genetic makeup. As part of this and with the permission of these volunteers, the genetic data will be made available to researchers and scientists working on tackling some of our country’s greatest health challenges. Genomics England will work with NHS England and public and patient groups to lead the development of the service.

Life Sciences Sector Deal 5/12/18

Final thoughts

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“Genetic solidarity and altruism

We all share the same basic human genome,

although there are individual variations which

distinguish us from other people.

Most of our genetic characteristics will be

present in others.

This sharing of our genetic constitution not

only gives rise to opportunities to help others

but it also highlights our common interest in

the fruits of medically-based genetic research.”

Thank you to all our

participants

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