The Generation study by Alice Tuff-Lacey

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Alice Tuff-Lacey
22/11/2023
The Generation study:
exploring the use of
WGS in newborns

2
What does the Generation Study aim to do for the diagnostic odyssey?
Baby develops
symptoms
Baby gets
diagnosis
Baby ref...

01
Evaluating the utility and
feasibility of screening
newborns for a larger number
of childhood-onset rare
genetic condit...

Five core questions we need to answer
Feasibility &
acceptability
Is the use of WGS as a tool for early
diagnosis of rare,...

5
Where are we?
Implementation
into the NHS
If the evidence review
supports it,
implementation into
NHS routine care
1 2 3...

6
How Newborns works
• NHS Strategic Implementation Group – designed to support design study and
communicate expectations ...

7
Public, participant, and patient perspectives
Newborn
Genomes
Programme
Public dialogue and engagement Standing structur...

8
Participant experience
Participant
NHS
GEL + partners
In partnership with NHS

9
Choosing which conditions to
screen for
The challenge: there are thousands of conditions that
could be detected through ...

10
Overview
Principles
Principle A: there is strong evidence that the
genetic variant or variants cause the condition
and ...

11
Governance and timeline
Sign-off
Aware
and
consulted
Developing principles
for choosing conditions
Reviewing conditions...

12
Specialities in scope
Audiovestibular
Cancer
Cardiology
Dermatology
Endocrinology
Gastroenterology
Haematology
Immunolo...

13
Variant Prioritisation Strategy
Inclusion list
Curated list of
disease-causing
variants
Data
refinement
ACMG classifica...

Communicating results
14
Note: Why we are not saying
‘positive’ or ‘negative’
• Communicating ‘condition suspected’:
• Com...

15
The locations of our study recruitment
NHS sites throughout England
Factors we’re considering when choosing sites:
Site...

16
Regional approaches
Develop treatment and support pathways
Refer and coordinate 'condition suspected' results
(Regional...

Thank you
Visit: www.genomicsengland.co.uk
17

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