This presentation was delivered at a Nesta Hot Topics event – Our Genomic Future – where we discussed what would happen if we all had our genome sequenced. For more on the event visit http://www.nesta.org.uk/event/our-genomic-future

3. Genetic
Biological Physical
Political Social
Behavioural
Genetic Endowment
Natural Environment
Structural Environment
Individual Behaviour
INDIVIDUALS POPULATIONS
Genetic factors are important determinants of health and disease and it will be as important
to understand these as the external environmental factors with which we are all familiar

4. GENES ENVIRONMENT
•
•
•
•
•
•
Complex diseases
Diabetes
Cardiovascular
Cancer
Alzheimer’s
Hypertension
Schizophrenia
Rheumatoid arthritis
Learning disability
Genes and environment work together and are jointly responsible for all physiological traits and disease risk

5. A
A
B
B1
B2
The relationship between populations and individuals will need to be better understood

6. What Matters –Genes or Environment?
p
p
q q
q
q
Disease
Risk
Disease
RiskE1
E1
E2
E2

7. A better understanding of disease mechanisms
A new
categorisation
of disease
based on
genotype
Novel
therapeutic
interventions
Opportunities
for the
prediction and
prevention of
disease
Greater diagnostic potential through genetic testing
Its implications for clinical care will need to be established

8. Economics
Genomics
Patient
Autonomy
Better
Prevention
Better
Diagnosis
Better
Treatment
Better
Prognosis
Organisational
Change
In the
NHS
Personalised
Health Care
Individual
The individual citizen
and patient will play a
much greater part in
health care and have a
better understanding of
their own disease risk

9. Super
Convergence
New Medicine
Old Medicine
Mobile
Connectivity
& Bandwidth
Internet
Social
Networking
Increased
Computing Power
& Data Universe
Wireless
Sensors
Genomics
Imaging
Information
Systems
Adapted from Fig 1: The
transformation of medicine today
to new individualised medicine
enabled by digitising humans.
Eric Topol (2012)
The Creative Destruction of Medicine
Physician driven
Technology as aid
Objective values assessed professionally
Medical profession as trusted intermediaries
Patient defers to physician
Community values predominate
Consumer driven
Technology driven
Subjective values predominate
Decline of trusted intermediaries
Patient as partner
Individualism reigns
Achieving
the right
balance
Information and telecommunication technologies will work with genomic technologies to result in a
new paradigm of care

10. Pre-test
Probability
Postnegative-test
Probability
Post-positive-test
Probability
D+ D-
D+ D-
T+
T+
T-
T-
P(D)=8%
P(D)=0.1%
10,000
100,000
800 9,200
1,032
8,968
664
136
368
8,832
Sensitivity=83%
Specificity=96%
100 99,900
4,079
95,921
83
17
3,996
95,904
From Hunink & Glasziou: Decision Making in Health & Medicine
PPV=64.3%
NPV=98.5%
PPV= 2.03%
NPV=99.98%
Use of FOBT in Colorectal Cancer
The value of genomic(and indeed all clinical) tests will always be greater when applied to the
ill patient than to the worried well