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Apr 17, 2023 245 likes •483 views

Towards an interoperable information infrastructure providing decision support for genomic medicine Matthias Samwald , Holger Stenzhorn, Michel Dumontier, M. Scott Marshall, Joanne Luciano, Klaus-Peter Adlassnig Section for Medical Expert and

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Towards an interoperable information infrastructure providing decision support for genomic medicine

Matthias Samwald, Holger Stenzhorn, Michel Dumontier, M. Scott Marshall, Joanne Luciano, Klaus-Peter Adlassnig Section for Medical Expert and Knowledge-Based Systems Center for Medical Statistics, Informatics, and Intelligent Systems Medical University of Vienna Austria + University of Technology, Vienna, Austria MIE 2011, 30. August 2011, Oslo, Norway

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Medical practice is far from perfect

Adults in the U.S. receive only about half of recommended care,1 and up to 98,000 Americans die each year as the result of preventable medical errors.2

1. McGlynn, Asch, Adams, Keesey, Hicks, DeCristofaro, Kerr: The quality of health care delivered to adults in the

United States. N. Engl. J. Med 2003

2. Kohn , Corrigan, Donaldson, in: To err is human: building a safer health system. 2000.

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The development and clinical establishment of new therapies, e.g. drugs

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Most promising drugs fail at some point and never reach widespread clinical practice

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“If it were not for the great variability among individuals, medicine might as well be a science and not an art” Sir William Osler, 1892

People are different

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This costs lots of lives and money

 €

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‚Stratified Medicine‘

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rs7412 – 10x risk of Alzheimer's disease
rs9939609 - risk of obesity and type-2

diabetes

rs1799971 - stronger alcohol cravings
rs1051730 - nicotine dependence
rs3057 - perfect musical pitch
rs4988235 - lactose intolerance

A considerable part of the differences might be caused by genetic variation (such as SNPs)

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> 500.000 SNPs
Cost < 400 €
Data is valid for the entire lifetime
f each individual

Genotyping is becoming very cheap

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Pharmacogenetic information is becoming available for many different drugs

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Samwald M, Jentzsch A, Bouton C, Kallesoe CS, Willighagen E, Hajagos J, Marshall MS, Prud’hommeaux E, Hassanzadeh O, Pichler E, Stephens S: Linked open drug data for pharmaceutical research and development. J Cheminf 2011, 3:19.

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Still very difficult to make this useful for clinical practitioners

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An extended view of personalized/stratified medicine

„Blockbuster drugs“

Drugs

„Personalized medicine“

Drugs + Diagnostics

„Computer-assisted personalized medicine“

Drugs + Diagnostics + Computer-based decision support

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W3C Health Care and Life Science Interest Group

Task force: „Clinical decision support for effective and

personalized medicine“

http://www.w3.org/wiki/HCLSIG/CDS/Introduction

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The W3C group is developing the ‚Translational Medicine Ontology‘

Luciano JS, Andersson B, Batchelor C, Bodenreider O, Clark T, Denney CK, Domarew C, Gambet T, Harland L, Jentzsch A, Kashyap V, Kos P, Kozlovsky J, Lebo T, Marshall SM, McCusker JP, McGuinness DL, Ogbuji C, Pichler E, Powers RL, Prud’hommeaux E, Samwald M, Schriml L, Tonellato PJ, Whetzel PL, Zhao J, Stephens S, Dumontier M: The Translational Medicine Ontology and Knowledge Base: driving personalized medicine by bridging the gap between bench and

bedside. J Biomed Sem 2011, 2:S1.

(excerpt)

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Knowledge Base based on W3C standards powering CDS systems based on HL7 standards (e.g. Arden, Gello)

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Vienna General Hospital: > 2200 beds

Project initiated at the Medical University of Vienna

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