Towards Personalized Medicine

2013-09-15 - Esitlused

Esitletud rahvusvahelisel konverentsil “E-health – integration of IT and medicine” Tartus 15.09.2013

Towards Personalized Medicine in Estonia from Erkki Leego


Towards personalized medicine in Estonia

  • Erkki Leego
  • IT adviser
  • Estonian Genome Center, University of Tartu


  • Biobank
    • An organized collection of human biological material and associated information stored for one or more research purposes
  • Population biobank
    • The collection has a population basis
    • To supply biological materials or data derived therefrom for multiple future research projects
    • It contains biological materials and associated personal data

Genetic research

  • Most complex diseases are caused by a large number of combined effects from genes, lifestyle, and the environment
  • New discoveries and development of tools depend on studies of large collections of well-documented, up-to-date epidemiological and clinical data accompanied by biological material from individuals

Estonian Biobank

  • Estonian Genome Center, University of Tartu
  • A prospective, longitudinal, population biobank with health record and biological materials
  • Established in 2000
  • 52,000 gene donors recruited -5% of the adult population
  • Supported directly by the government
  • Estonian Human Genes Research Act

Population pyramid (50155 participants)

Data “infrastructure” for research

  • Good quality data collection
    • Biomedical data (DNA, plasma, WBC)
    • Phenotype
    • Genealogy
    • Epidemiology data
    • Genotypes
  • Open to various research projects
  • Well defined procedures for data release
  • Usable next 30 years

Diagnoses in the database

  •  (50155 participants)

Education: the Estonian population vs. EGCUT

  • (50155 participants)

Using data

  • Today’s focus is on Genome Wide Association Studies (GWAS)
    •  “Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk„
    • “Complement Factor H Polymorphism in Age-Related Macular Degeneration”
  • Next focus on rich phenotype, including health behavior and sensor data
  • Then personalized medicine solutions

Example. Coffee drinking habits

Example of science project

  • Genetic map of Europe

Genetic „map“ of Estonia

Secure data handling

Coding challenges

Public opinion and awareness of the EGCUT 2001-2013

Example of personal genetic information

Risk dependence on age

  • Men ages 0-79
  • Men ages 40-49

What can I do?

Ancestery and relatives

  • Ancestery
  • DNA relatives

Towards more personalized medicine

Calculating personal genetic risks

Conditions for feedback

  • Treatable health conditions with genetic factors
    • Melanoma
    • Prostate cancer
    • Type I and II Diabetes
    • Lupus
    • Age-Related Macular Degeneration
    • Iron Overload/Hemochromatosis


  • How genetic makeup affects an individual’s response to drugs
  • Aim is to ensure maximum efficacy with minimal adverse effects
  • Drugs and drug combinations can be optimized for each individual’s unique genetic makeup
  • Reduces cost of healthcare

New devices for self monitoring

  • ECG adaptor for smartphone
  • Blood clucose sensors
  • Sleep monitoring
  • Ultrasound device Vscan

Challenges and issues

  • Awareness doctors and patients
  • New technologies and data empower patient with more possibilities to manage own health
  • Ethical issues
    • Right to know and right not to know
    • Treatable and non-treatable conditions
  • Not enough knowledge about associations between DNA variants and diseases
  • Large work-load to keep database of known risk markers updated

Estonia’s unique starting point

Estonian E-services

  • 99% of bank transfers are performed electronically
  • 94% of income tax declarations made via the e-Tax Board
  • 24% of votes were cast over the internet on 2011
  • 62% persons have completed the e-census 2012
  • 2000: Launch of e-Tax Board
  • 2000: Launch of m-Parking
  • 2002 : Introduction of national electronic ID-Card
  • 2005: i-Voting was introduced
  • 2007: Introduction of m-ID
  • 2007: Launch of e-Police system
  • 2008: Launch of e-Health system
  • 2010: Launch of e-Prescription
  • 2012: e-census

Tools and enablers of information exchange

  • One universal national identification code
    • Registries and databases use same code to uniquely identify persons
  • National PKI infrastructure
  • The Estonian ID card
    • Smartcard with two digital certificates
  • National Data Exchange Layer X-Road
  • Obligatory national data security framework
  • High public acceptance and trust
    • No public incidents or misuses (10 years)

Estonian information system

The Estonian ID card

  • The ID card is a mandatory ID document for all Estonian residents from the age of 15
  • Enables secure digital authentication and signing
  • A digital signature has the same legal consequences as a hand-written signature
  • Does not have any additional information
    • No bank account, no health information etc.
  • Active cards: 1 209 594 (13.09.2013)
    • Estonian Population 1 286 540 (01.01.2013)
    • Estonia has been issuing electronic ID cards from January 1st 2002

Public Key Infrastructure PKI

  • PKI or the public key infrastructure enables secure digital authentication and signing
  • The infrastructure also allows forwarding data by using an encrypting key pair: a public encryption key and a private decryption key
  • In Estonia, this technology is used in relation with electronic identity (ID card, mobile ID, digital ID)
  • Certification Service and Time-stamping Service provider is non-governmetal

Data Exchange Layer X-Road

  • Technical and organizational environment, which enables secure Internet-based data exchange between the state’s information systems


  • Estonia has great potential to implement state level personalized medicine solutions
    • Genetic research with 5% of population genetic and continuously updated phenotype information
    • Nation wide Health Information Exchange platform
    • 10 years of experience of national level e-services (PKI, X-Road, ID-card, security framework)
    • High level public trust and acceptance

Thank you!

Erkki Leego