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Clinical decision support systems for personalized medicine
Asst.-Prof. Mag. Dr. Matthias Samwald
CeMSIIS, Medical Univers...
Drug safety and effectiveness vary drastically
between patients
Part of this variability can be explained by
genetic variation influencing individual
pharmacokinetics and –dynamics
The f...
However, several barriers to widespread
implementation of pharmacogenomics remain
×Lack of selection of a panel of clinica...
We are aiming for pre-emptive pharmacogenomic testing,
where data on all essential pharmacogenes are tested in one
go and ...
But how to make use of these data when they are
finally available?
 Clinical decision support systems!
Is there evidence for the effectiveness of clinical
decision support systems (CDSS)?
• A 2005 systematic review by Garg et...
Have clinical decision support systems been widely
adopted in the last decades?
• Initial discussions already in the 1960s...
Which features of clinical decision support system
have an impact on their success?
CDSS is integrated into the clinical w...
This is idealThis is what is possible in
most places 
Current status among U-PGx implementation sites
We conducted a mixed-method study on system
design
1. Interviews with clinical pharmacologists (n = 8)
2. Survey A: PGx pr...
Practical question:
Which drugs might cause
trouble for this patient?
Not:
Which genotype/phenotype
does the patient have?...
Anonymous! No central database!
Open-source codebase!
The MSC system was evaluated positively
We also asked participants to use the system for
solving two cases
See http://safety-code.org/
Take-home messages
• Computer-based decision support is essential…
• …but tricky to implement effectively
• Busy practitio...
Local team (Medical University of Vienna)
Asst.-Prof. Mag. Dr. Matthias Samwald
Dr. Kathrin Blagec
Mag. Sebastian Hofer
Ho...
Bridging theory and practice: Clinical decision support systems for personalized medicine
Bridging theory and practice: Clinical decision support systems for personalized medicine
Bridging theory and practice: Clinical decision support systems for personalized medicine
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Bridging theory and practice: Clinical decision support systems for personalized medicine

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Talk at SUMMER SCHOOL: GENOMIC MEDICINE – Bridging research and the clinic, May 7 2016, Portoroz, Slovenia

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Bridging theory and practice: Clinical decision support systems for personalized medicine

  1. 1. Clinical decision support systems for personalized medicine Asst.-Prof. Mag. Dr. Matthias Samwald CeMSIIS, Medical University of Vienna SUMMER SCHOOL: GENOMIC MEDICINE – Bridging research and the clinic, May 7 2016, Portoroz, Slovenia Bridging theory and practice Funded by Austrian Science Fund (FWF): [P 25608-N15] This project has received funding from the European Union’s Horizon 2020 research and Innovation programme under grant agreement No 668353 (KB and MS).
  2. 2. Drug safety and effectiveness vary drastically between patients
  3. 3. Part of this variability can be explained by genetic variation influencing individual pharmacokinetics and –dynamics The frequencies of actionable pharmacogenes. Over 95% of the population carries at least one actionable genotype for one of the genes covered by the DPWG guidelines (Dunnenberger, 2015)
  4. 4. However, several barriers to widespread implementation of pharmacogenomics remain ×Lack of selection of a panel of clinically relevant PGx markers ×Lack of information on cost-effectiveness and cost- consequences of PGx testing ×Lack of knowledge when test needs to be conducted; organizational overheads discourage testing ×Lack of appropriate information technologies for interpretation and incorporation in the workflow of physicians and pharmacists
  5. 5. We are aiming for pre-emptive pharmacogenomic testing, where data on all essential pharmacogenes are tested in one go and are made available for immediate use in the future Gene Substances associated with gene in pharmacogenomic guidelines Core list CYP2C19 amitriptylinea,b, clomipraminea,b, clopidogrela,b, desipraminea, doxepinb, imipraminea,b, nortriptylinea,b, trimipraminea, citalopramb, escitalopramb, esomeprazoleb, lansoprazoleb, moclobemideb, omeprazoleb, pantoprazoleb, rabeprazoleb, sertralineb, voriconazoleb CYP2C9 warfarina, acenocoumarolb, glibenclamideb, gliclazideb, glimepirideb, phenprocoumonb, phenytoinb, tolbutamideb CYP2D6 amitriptylinea,b, clomipraminea,b, codeinea,b, desipraminea, doxepina,b, imipraminea,b, nortriptylinea,b, trimipraminea, aripiprazoleb, atomoxetine b, carvedilol b, clozapineb, codeinea,b, Duloxetineb, flecainideb, flupenthixolb, haloperidolb, metoprololb, mirtazapineb, olanzapineb, oxycodoneb, paroxetineb, propafenoneb, risperidoneb, tamoxifenb, tramadolb, venlafaxineb, zuclopenthixolb CYP3A5 tacrolimusb DPYD capecitabinea,b, fluorouracila,b, tegafura,b TPMT azathioprinea,b, mercaptopurinea,b, thioguaninea,b UGT1A1 irinotecanb SLCO1B1 simvastatina VKORC1 warfarina, phenprocoumonb Others F5 estrogen-containing oral contraceptivesb HLA-B abacavira,b, allopurinola, carbamazepinea, ribavirina,b IFNL3 peginterferon alfa-2aa, peginterferon alfa-2ba, ribavirina,b a: substance covered by CPIC guidelines, b: substance covered by DPWG guidelines. Data as of mid-2014.
  6. 6. But how to make use of these data when they are finally available?  Clinical decision support systems!
  7. 7. Is there evidence for the effectiveness of clinical decision support systems (CDSS)? • A 2005 systematic review by Garg et al. of 100 studies concluded that o CDSS improved practitioner performance in 64% of the studies o CDSS improved patient outcomes in 13% of the studies (detecting patient outcomes often difficult) • CDSS could also help improve translation of findings from clinical research into practice o Currently this often takes 10+ years
  8. 8. Have clinical decision support systems been widely adopted in the last decades? • Initial discussions already in the 1960s, prototypes in the 1970s • However, mostly research prototypes that were never widely deployed o Even though several were shown to perform better than humans • Several reasons for lacking adoption o Lack of integration into existing workflows, bad user interfaces (!!) o Lack of trust o Lack of incentive o Knowledge bases not kept up-to-date
  9. 9. Which features of clinical decision support system have an impact on their success? CDSS is integrated into the clinical workflow CDSS provides decision support at the time and location of decision making Integration with charting or order entry system CDSS actively provides recommendations / alternatives for care, not just assessments Avoiding over-alerting / ‚altert fatigue‘ Justification of decision support via research evidence Provision of decision support results to patients as well as providers
  10. 10. This is idealThis is what is possible in most places 
  11. 11. Current status among U-PGx implementation sites
  12. 12. We conducted a mixed-method study on system design 1. Interviews with clinical pharmacologists (n = 8) 2. Survey A: PGx professionals (n = 63) 3. Survey B: Physicians and pharmacists (n = 43)
  13. 13. Practical question: Which drugs might cause trouble for this patient? Not: Which genotype/phenotype does the patient have? Filtered for actual clinical significance
  14. 14. Anonymous! No central database! Open-source codebase!
  15. 15. The MSC system was evaluated positively
  16. 16. We also asked participants to use the system for solving two cases
  17. 17. See http://safety-code.org/
  18. 18. Take-home messages • Computer-based decision support is essential… • …but tricky to implement effectively • Busy practitioners want a tweet, not an essay • In passive CDS, show most important information first (medications with added risk!) • Let us know if you want to adopt the MSC system!
  19. 19. Local team (Medical University of Vienna) Asst.-Prof. Mag. Dr. Matthias Samwald Dr. Kathrin Blagec Mag. Sebastian Hofer Hong Xu Web http://samwald.info/ http://safety-code.org/ http://upgx.eu Questions?

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