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

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

A

A

B

B1 B2

The relationship between populations and individuals will need to be better understood

What Matters –Genes or Environment?

p

p

q q

q

q

Disease

Risk

Disease

Risk E1

E1

E2

E2

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

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

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

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