The document outlines Estonia's steps towards personalized medicine, highlighting the establishment of a population-based biobank, the Estonian Genome Center, and supporting legislation for genetic research. It details the technical infrastructure enabling secure data exchange and the public's interest in genetic testing, revealing survey results that show a high willingness to pursue such tests. The document also identifies future challenges, including the need for international cooperation and the development of an IT framework for integrating genetic information into healthcare.

1. Steps Towards personalised
medicine in Estonia
EuroBioForum 2012
April 18th, 2012
Liis Leitsalu, Ivi Normet

2. “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

3. 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

4. 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

5. 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

6. 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

7. 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

8. HEALTH CARE BOARD EGCUT
- Health care providers
- Health professionals
- Dispensing chemists
Pharmacies Emergency
2010 January Medical Service
STATE AGENCY
OF MEDICINES 2013
- Citizen Registry Hospitals Family doctors School health
- Coding Centre
-Company Registry 2009 2009 2010
- Handlers of medicines
SS SS SS SS SS SS SS SS SS
X-ROAD
SS SS SS
Healthcare
Patient portal Monitoring portal
Provider
HEALTH INSURANCE
FUND
Goverment’s e-service framework
www.eesti.ee
Prescription Centre
2010 january
KIT EIT AIT W-SS
Citizen view Enterprice view Official’s view HEALTH INFORMATION
SYSTEM (EHR)
17.12.2008
Doctor’s and Estonian national eHealth infrastructure
pharmacies
software solutions Slides: courtesy of Dr. Madis Tiik

9. 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

10. EGCUT IS 2011-2015
Citizen Registry
Causes of Death Registry
National Digital Health
Record DB
Participant
Updated
phenotype
Participant
Participant data
Participant
Participant Cancer Registry
Additional
Participant Participant questions.
Timeline Health data.
No identification
data
Operative database
Genetic
information
Data Phenotype database
release
Online access to
database
Participant
Patient Portal
National DHR Scientists
Primary care physician

11. 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)

12. 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 56% Might give me unwanted 40%
better advice and help regarding information
my health
General curiosity about my 47% Results are not reliable, not all is 24%
genetic make-up known yet about the genes
So that I could change my lifestyle 45% I am concerned about my 20%
and health behavior accordingly privacy
It could be useful for others 39% Results cannot yet be used in 20%
(science, offspring) disease treatments
Other... 0% Other... 23%

13. 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)

14. 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

15. Thank you!