We are creating a barrier-free system for storing and interpreting personal pharmacogenomic information: The Medication Safety Code

1. The Medication Safety Code
initiative
Towards a global IT system for personalized
medicine
Matthias SAMWALD, José Antonio MINARRO-GIMÉNEZ,
Kathrin BLAGEC, Klaus-Peter ADLASSNIG
Medical University of Vienna, Austria

2. Drug safety and effectiveness vary drastically
between patients with different genetic profiles
Up to 100,000 deaths and 2 million hospitalisations per year in the United States
Many therapeutics in development eventually fail to reach patients
and costs of bringing a new drug to market are now > 1 billion Euros

3. Pharmacogenomic assays and treatment algorithms
are becoming more and more numerous

4. Pharmacogenomic assays and treatment algorithms
are becoming more and more numerous

5. Pharmacogenomic assays and treatment algorithms
are becoming more and more numerous
Sequencing-based:
PGRNseq
…
Microarray-based:
23andMe
Affymetrix DMET chip
Florida/Stanford chip
…

6. We are creating a barrier-free system for storing and
interpreting personal pharmacogenomic information:
The Medication Safety Code
Current version contains data on ~15 pharmacogenes
with clinically actionable variants

7. We are creating a barrier-free system for storing and
interpreting personal pharmacogenomic information:
The Medication Safety Code

8. Technology
• Compressed pharmacogenomic data in QR codes
• Can be readily decoded and interpreted with common
mobile devices
o QR code readers come pre-installed on most devices; installation of
dedicated apps not required
o Web-based decision support service gives dosing recommendations
based on up-to-date clinical guidelines
• All data are inside the QR code
o No central database required
(patients have full control over their data)
o Decoding on client-side through Android app is possible
• Data remains anonymous
• Backed by a sophisticated knowledge base we created
o > 300 pharmacogenomic decision support rules as table and OWL
ontology

9. After scanning, the system presents a searchable,
prioritized list of personalised pharmacotherapy
guidelines

10. After scanning, the system presents a searchable,
prioritized list of personalised pharmacotherapy
guidelines

11. Alternatively, you can select drugs for which
treatment recommendations are required and enter
data manually

12. Recent addition: MSC app for offline-use available on
Google Play for registered users

13. Preview:
Formative user evaluations with clinical pharmacists
• Ongoing user evaluations with clinical pharmacists at
University of Pittsburgh
• Preliminary results help optimize pharmacogenomic CDS
o Guidelines from different sources slightly different, confusing to
users when both are presented
o Pharmacists really appreciate alternative treatment
recommendations (not only warnings)
o Trustworthiness and traceability of recommendations are very
important

14. Preview:
Checking the fidelity of (pharmaco)genomic tests for
diverse patient populations
• Using full-genome data from > 1000 patients of diverse
ancestries (1000 genomes dataset)
• Simulating the results one would yield with cheaper
(array-based) pharmacogenomic tests and current
haplotype definitions for these patients
o Usually, these tests only check for certain ‘characters’ in the
genome sequence, while ignoring others
• Our unpublished results indicate that cheaper genetic tests
are prone to produce false or questionable results quite
frequently, and that these results differ based on ancestry
o E.g., for certain genes and assays, patients with African or Asian
ancestries have higher risk of problematic pharmacogenomic
assay results

15. Preview:
Impact estimation of delivering pre-emptive
pharmacogenomic testing and CDS to broad patient
populations

16. Preview:
Impact estimation of delivering pre-emptive
pharmacogenomic testing and CDS to broad patient
populations
• Impressive data on medications with associated
pharmacogenomic guidelines from private practices in
Germany alone:
o Total net cost of 3,75 billion € per year
o 123 million prescriptions per year
• We are currently conducting a study with detailed
prescription data from hundreds of millions of patients
(IMEDS datasets, mostly from United States)

17. Vision
• Creating a barrier-free system for putting personalized
medicine into the pockets of patients
• Making pharmacotherapy safer, more effective and
less costly through pre-emptive genotyping
• Cooperation of stakeholders
o Clinical institutions and medical professionals
o Health insurance providers
o Pharmaceutical companies
o Genetic testing providers
o Health IT companies
o Patient organisations
• Enable bringing stratified/personalized therapeutics to
market

18. Vision
• Towards a new synthesis:
Personalized, computer-assisted pharmacotherapy
 Pharmacogenomics for pharmacokinetics and -dynamics
 Polypharmacy and clinical parameters (e.g., organ dysfunction)
 Personalisation based on sex / gender
 Age (pediatric and geriatric patients)
 Genetic risk markers for rare, severe adverse effects
 Somatic mutations in cancer therapy

19. Wrapping up:
How does all that relate to you?

20. Join us on
http://safety-code.org/

21. Wrapping up:
How does all that relate to you?
• We are interested in evaluating the system and decision
support functionality in various medical settings (as well
as pharmacies)
 opportunity for research papers!
• We are looking for commercial partners to integrate MSC
technology into their products
 opportunity for novel products for medication safety!
• European Research projects (e.g., PHC-24)

22. Thanks!
Local team (Medical University of Vienna)
Dr. Matthias Samwald (team lead, biomedical informatics & pharmacology)
Dr. Jose Antonio Miñarro-Gimenez (researcher and developer, computer science)
Kathrin Blagec (medical student)
Prof. Dr. Klaus-Peter Adlassnig (biomedical informatics)
International participants & supporters
Robert R. Freimuth (Mayo Clinic)
Richard Boyce (University of Pittsburgh)
Michel Dumontier (Stanford University)
Simon Lin (Marshfield Clinic)
Web
http://safety-code.org/
Funding
Austrian Science Fund (FWF): [PP 25608-N15]