Professor Markus Perola, THL, at Genomics to Healthcare EU side event, 13 Sept 2019, THL, Helsinki

1. GENOMICS TO
HEALTHCARE
FINNISH PRECISION
MEDICINE STUDIES
P5 AND P6
3 Prevention of common
chronic diseases using
modern medicine
19.9.2019 1
Markus Perola
MD, PhD, Research Professor
Finnish Institute for Health and Welfare (THL), Helsinki, Finland

2. PRS = A TOOL FOR PREDICTING
GENETIC HEALTH RISKS
19.9.2019 2
3
D-vitamin level
lung cancer
inflammatory bowel diseases
gout
dementia
atrial fibrillation
rheumatoid arthritis
stroke
asthma
COPD
breast cancer
prostate cancer
retinal degeneration
colorectal cancer
smoking
parodontitis
hyperlipidaemia
caries type 2 diabetes
coronary heart disease
venous thrombosis The genome contains many different sites
that each modify the risk for the disease. The
size of the effect differs between sites.
 Each individual has their unique combination
of the risk modifying sites
 The sum of the risk effects is the polygenic
risk score of the individual
Disease endpoints selected to the P6 study

3. COMPARISON OF TRADITIONAL RISK FACTORS AND PRS
IN CORONARY ARTERY DISEASE
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3
Genetic risk
enables
more
individualized
care
Risk group evaluation
based on traditional
risk factors
Risk group evaluation
with traditional and
genetic risks combined
Presumably treated
Presumably not
treated
Participants
= 17% of the traditional
10-20% risk group
= 0.9% of all participants
= 46% of the traditional
10-20% risk group
= 37% of the traditional
10-20% risk group
Perola et al Duodecim 2019, Tikkanen E et al ATVB 2013

4. COMPARISON OF PRS AND BMI IN TYPE 2 DIABETES
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3
Genetic risk brings
added personalized
value to the disease
prevention
regardless of lifestyle
No (%) of type 2 diabetes cases
in a 10-year follow-up
Perola et al Duodecim 2019, Läll et al Genet Med 2017

5. COMPARISON OF AGE AT EVENT IN PRS RISK CLASSES
IN CORONARY ARTERY DISEASE
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3
Genetic risk identifies
individuals who have
increased risk to get
the disease younger
than others
Mean age at event
68 y
65 y
59 y

6. 9/19/2019 markus.perola@thl.fi 6
“…communicating DNA
based risk estimates
changes behaviour is not
supported by existing
evidence … do not support
use of genetic testing or the
search for risk-conferring
gene variants for common
complex diseases on the
basis that they motivate
risk-reducing behaviour.”
INTERVENTION!

7. NATIONAL INSTITUTE FOR HEALTH AND WELFARE
P6
TERVEYDENHUOLTO GENOMIIKKA
PUBLIC HEALTH PROGRAMMES
e.g. North Karelia Project 1972–, Finnish Allergy
Program 2008–2018, Suicide Prevention Project, Indoor
Air and Health
P6
INTERVENTION STUDIES
e.g. Diabetes Prevention Study (DPS),
FINGER, vaccine trials
POPULATION
FOLLOW-UP STUDIES
e.g. HES-surveys: Mobile Clinic, FINRISK, Health
2000/2011, FinHealth
DATA RECORDS
AND SAMPLE COLLETIONS
e.g. national registries, biobanks
A plethora of genomic regions
found to associate with various
diseases and traits (e.g. coronary
heart disease, type 2 diabetes)
Costs of genome analyses rapidly
decreasing
Focus heavily on treatment instead
of prevention
Ageing population; increasing costs
resulting from the chronic diseases
HEALTHCARE GENOMICS

8. P6 – GENOMICS TO HEALTHCARE
Prevention of common chronic diseases using modern medicine
19.9.2019 8
Collaboration in P6
 National Institute for Health and Welfare (THL) leads the
project
 Extensive collaboration network
– Including Ministry of Social Affairs and Health, Business Finland,
Sitra, Finnish biobanks, universities, medical specialists on
various fields, HealthTech companies etc.
 Pilot project P5 FinHealth launched in February 2018
– 3,500 participants
– Funded by Sitra, Finnish Foundation for Cardiovascular
Research and Yrjö Jahnsson Foundation
3

9. P6 – GENOMICS TO HEALTHCARE
Prevention of common chronic diseases using modern medicine
19.9.2019 9
3
Forming polygenic risk scores (PRS) based on
previous high-quality research.
Evaluation of PRSs in a large prospective Finnish
population sample collection
Recruitment of 100.000 participants from the
Finnish biobanks. Returning disease risk
information (genetic and lifestyle) via a
secure web portal
Invitation of X.000 high-risk individuals
to an active intervention (RCT)
D-vitamin level
lung cancer
inflammatory bowel diseases
gout
dementia
atrial fibrillation
rheumatoid arthritis
stroke
asthma
COPD
breast cancer
prostate cancer
retinal degeneration
colorectal cancer
smoking
parodontitis
hyperlipidaemia
caries type 2 diabetes
coronary heart disease
venous thrombosis
Disease endpoints selected to the P6 study

10. P6 – GENOMICS TO HEALTHCARE
Prevention of common chronic diseases using modern medicine
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3
Improved public
health
Cost-effective use of
the healthcare
resources
Health equality
of citizens
Finland as a
healthcare
pioneer
Improved prevention and
early care of the common
chronic diseases
Novel opportunities for research,
public-private co-operation and
businesses in the health sector
Professionally directed
use of genetic information
in the clinical care
Healthcare professionals have a new predcitive, preventive, personalized and
participatory tool for their clinical work that is ethically sound and simple to use
Management
and
coordination
P6 Study
P5 pilot
Communicat
ions
Public-
private
collaboration
Technology
and
biobanks
Health-
economic
evaluations
Training
PURPOSE

11. P6 – TIMELINE
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3
P5 FinHealth pilot
2018-2019
Strategic planning
of the P6 initiative
2019
P6 PRS
analyses in the
FINRISK cohort
2020
Recruitment of P6
study subjects via a
biobank portal
2020-2021
Follow-up through national
healthcare registries
Follow-up studies
2023 ->
P6 interventions
2020-2023
Returning P6 risk
information via a
secure web portal
2021-2023
Analyses of the
P6 results
2021-2023

12. GENOMICS TO HEALTHCARE – EXPECTED IMPACTS
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3