Steps Towards personalised medicine in Estonia

EuroBioForum 2012

April 18th, 2012

Liis Leitsalu, Ivi Normet

“Estonian advantage”

National healthcare system and unified

regulations across the country

Population based biobank and the omics data

IT infrastructure developments

Positive attitude from the physicians and the

general population

Estonian Genome Center of the University of

Tartu (EGCUT)

Research institute with a longitudinal

prospective population based biobank – the

Estonian Biobank

Established in 2000

Recruitment via primary care providers

Over 50,000 gene donors recruited

Collection of biological material

Database of genotypic, phenotypic, health,

and genealogical information

Network of recruiters

Primary care

providers (PCPs)

Network of 640

recruiters

454 GPs (56% of all

GPs in Estonia)

186 senior nurses

and nurses

30h training

Human Genes Research Act (HGRA)

Approved by the Government on Aug 8, 2000

HGRA regulates

scientific research on human genetics

establishment and maintenance of the biobank

use of genetic information (informed consent)

legislation is forbidding third party access to the database

(police, employers, insurance companies etc.)

HGRA protects

confidentiality of the gene donor

public from the misuse of the genetic information

gene donor from the genetic discrimination

HGRA cont.

HGRA allows

Allows re-contacting and collection of health data

from other registries

Gene donors have the right to get feedback on their

genetic information

Feedback should be accompanied by clinical

counseling

Technical infrastructure

ID card – unique, obligatory

electronig identity card

1,150,000 ID cards - 90% of Estonians

enables unique identification and electronic signature

Estonian National Health Information System

obligatory for health care service providers to forward

medical data into the ENHIS since 2008

X-road

nationwide technical infrastructure established by the state

a connection between all Estonian public sector databases

allowing secure data exchange

X-ROAD

SS

HEALTH CARE BOARD - Health care providers

- Health professionals

- Dispensing chemists

STATE AGENCY

OF MEDICINES

- Coding Centre

- Handlers of medicines

SS

SS

HEALTH INSURANCE

FUND

Prescription Centre

2010 january

HEALTH INFORMATION

SYSTEM (EHR)

17.12.2008

SS

SS

- Citizen Registry

-Company Registry

SS

Pharmacies

2010 January

Doctor’s and

pharmacies

software solutions

Hospitals

2009

Family doctors

2009

Emergency

Medical Service

2013 School health

2010

SS SS SS SS

Healthcare

Provider

SS

Monitoring portal Patient portal

Goverment’s e-service framework

www.eesti.ee

KIT

Citizen view

EIT

Enterprice view

AIT

Official’s view

W-SS

Estonian national eHealth infrastructure

Slides: courtesy of Dr. Madis Tiik

EGCUT

SS

Future plans

To implement the new knowledge of genomics

(omics) research in public health

To implement a database that

can be accessed by all physicians in Estonia

would contain genomic data, along with all other

medically relevant information

could be used in medical counseling

National Digital Health Record DB

Online access to database

Scientists

Health data. No identification

data

Phenotype database

Patient Portal National DHR

Cancer Registry

Citizen RegistryCauses of Death Registry

Participant

Participant

Participant

Participant

Participant

Participant

Participant

Operative databaseGenetic

information

Additional questions. Timeline

Updated phenotype

data

Participant

Data release

EGCUT IS 2011-2015

Primary care physician

Public’s views and opinion regarding the use of genomic information in personalized medicine

TNS Emor survey 2011

topics for annual (or every 2-3 years) monitoring

knowledge, attitudes and health behavior

topics for non-recurrent mapping

barriers for testing, motivations for testing, financing, data

access

1000 individuals between 15 and 74 composed to be proportional to population structure with

respect to age, gender, religion and nationality

CATI (Computer Assisted Telephone Interviewing)

Motivations and barriers for testing

Genetic risk predictions through personalized genetic tests are available

already today. For what extent would You personally be interested in such a

test if it is for free of charge? 74% very or fairly interested 12% and 8% not very and definitely not

interested

Which of those statements correspond with your standpoint?

So that the doctors could give me

better advice and help regarding

my health

56% Might give me unwanted

information

40%

General curiosity about my

genetic make-up

47% Results are not reliable, not all is

known yet about the genes

24%

So that I could change my lifestyle

and health behavior accordingly

45% I am concerned about my

privacy

20%

It could be useful for others

(science, offspring)

39% Results cannot yet be used in

disease treatments

20%

Other... 0% Other... 23%

Financing and access

50% - interested in a genetic test even if they have to

pay for it

Who should have access to the genetic test results?

family doctor (PCP) 14%

self 12%

both self and the PCP 70%

Other comments (n=58)

Data protection (n=9)

Limited trust towards the PCP (n=7)

Me first, then the PCP (n=12)

PCP has the necessary qualifications (n=14)

Interested in more information (n=3)

Challenges ahead

1. Support international cooperation for data

usage as well as release of biomaterial and

phenotype data

2. Collecting additional data

3. Developing an IT-framework for usage of the

genetic information in healthcare

4. Integrating all the data sources

Thank you!