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Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Reforming Medical Informatics in Germany - Basis for Precision Medicine
Prof. Dr. H.U. Prokosch Chair of Medical Informatics Friedrich-Alexander-Universität Erlangen-Nürnberg and past board member of the GMDS
11. Oktober 2016
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Agenda
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• Precision Medicine
• Data Sources for Precision Medicine
• Exemplary Applications
• Challenges for Medical Informatics
Biomedical Informatics
(Medical Data Science)
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Precision Medicine
3
http://healthitanalytics.com/features/how-precision-medicine-will-shift-from-research-to-clinical-care
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
The U.S. Precision Medicine Initiative
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Launched by President Barack Obama,
January 20, 2015
Images as a courtesy of Jyothisman Pathak (Weill Cornell Medicine, Healthcare Policy & Research)
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016 5
The U.S. Precision Medicine Initiative
A research cohort that will engage a million or more Americans who volunteer
to contribute their health data and biospecimen over many years to improve
health outcomes, fuel the development of new treatments for disease, and
catalyze a new era of data-based and more precise preventive care and medical
treatment. https://www.nih.gov/precision-medicine-initiative-cohort-program/precision-medicine-initiative-cohort-program-frequently-asked-questions
slide as a courtesy of
Jyothisman Pathak
(Weill Cornell Medicine,
Healthcare Policy & Research)
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
‘precision medicine’ is promising to provide
‘the right patient
with the right dose
of the right drug,
at the right time’.
Bevan E Huang, Widya Mulyasasmita & Gunaretnam Rajagopal (2016). The path from big data to precision medicine, Expert Review of
Precision Medicine and Drug Development, 1:2, 129-143, DOI: 10.1080/23808993.2016.1157686
Precision Medicine
The path from big data to precision medicine
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Precision Medicine & Big Data
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
US FDA Definiton:
“… ‘the tailoring of medical treatment
to the individual characteristics, needs, and preferences
of a patient during all stages of care, including
• prevention,
• diagnosis,
• treatment, and
• follow-up’.
Precision Medicine & Big Data
FDA. Paving the Way for Personalized Medicine: FDA’s Role in the New Era of Medical Product Development;
http://www.fda.gov/downloads/ScienceResearch/SpecialTopics/PersonalizedMedicine/UCM372421.pdf; 1b
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
US FDA Definiton:
“… ‘the tailoring of medical treatment to the individual characteristics, needs, and
preferences of a patient during all stages of care, including • prevention,
• diagnosis,
• treatment, and
• follow-up’.
Big data, as it applies to precision medicine, is the generation and
repository of large amounts of data from
• bio-specimens,
• health records,
• medical imaging and
• sensors,
from which disease-specific factors, patterns, and associations
can be computationally identified and used
to customize medical treatments unique to the individual
Precision Medicine & Big Data
FDA. Paving the Way for Personalized Medicine: FDA’s Role in the New Era of Medical Product Development;
http://www.fda.gov/downloads/ScienceResearch/SpecialTopics/PersonalizedMedicine/UCM372421.pdf; 1b
Data Warehouse
Data Mining
Machine Learning
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Data Sources for Precision Medicine
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Figure 1. In the future, precision medicine will be enabled by individuals surrounded by a cloud of data. Layers of the cloud represent data varying between
those directly affecting/quantifying the individual, and those quantifying the environment and indirectly affecting the individual, i.e. levels of the exposome.
Published in: Bevan E Huang; Widya Mulyasasmita; Gunaretnam Rajagopal; Expert Review of Precision Medicine and Drug Development 2016, 1, 129-143.
DOI: 10.1080/23808993.2016.1157686
Copyright © 2016 Informa UK Limited, trading as Taylor & Francis Group
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Data Sources for Precision Medicine
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Published in: Bevan E Huang; Widya Mulyasasmita; Gunaretnam Rajagopal; Expert Review of Precision Medicine and Drug Development 2016, 1, 129-143.
DOI: 10.1080/23808993.2016.1157686
Copyright © 2016 Informa UK Limited, trading as Taylor & Francis Group
Clinical
Informatics
Imaging
Informatics
Bioinformatics
Exposome
Informatics
Sensor-based
Wearables
Medical
Informatics ?
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Precision Medicine
12
Exemplary applications
for research
and clinical care
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Clinical Care and Translational Research two (or three ?) separate worlds
Co
mm
un
ica
tion
Se
rve
r
EHR
DWH
Feasibility Phase / Cohorte Identification
Study Protocol
Registration in Trial Registry
Patient Recruitment
Clinical Trial documentation
Pharmacovigilance
The
clinician
The clinical
researcher
The basic
researcher
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Challenge: Reuse Clinical Care Data for Translational Research
Co
mm
un
ica
tion
Se
rve
r
EHR
DWH
Feasibility Phase / Cohort Identification
Study Protocol
Registration in Trial Registry
Patient Recruitment
Clinical Trial documentation
Pharmacovigilance
The
clinician
The clinical
researcher
The basic
researcher
Single Source Concept
Medical Informatics &
Clin. Research Informatics
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Challenge: Reuse Clinical Care Data for Translational Research
Co
mm
un
ica
tion
Se
rve
r
EHR
DWH
Feasibility Phase / Cohorte Identification
Study Protocol
Registration in Trial Registry
Patient Recruitment
Clinical Trial documentation
Pharmacovigilance
The
clinician
The clinical
researcher
The basic
researcher
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Discovery Research in the Genomic Era
Co
mm
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Se
rve
r
EHR
DWH
Feasibility Phase / Cohorte Identification
Study Protocol
Registration in Trial Registry
Patient Recruitment
Clinical Trial documentation
Pharmacovigilance
Biomedical Informatics
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Discovery Research in the Genomic Era
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
http://transmartfoundation.org/
Discovery Research in the Genomic Era An exemplary platform
Scheufele E, Aronzon D, Coopersmith R, McDuffie MT, Kapoor M, Uhrich CA,
Avitabile JE, Liu J, Housman D, Palchuk MB. tranSMART: An Open Source
Knowledge Management and High Content Data Analytics Platform. AMIA Jt
Summits Transl Sci Proc. 2014 Apr 7;2014:96-101.
Athey BD, Braxenthaler M, Haas M, Guo Y. tranSMART: An Open Source and
Community-Driven Informatics and Data Sharing Platform for Clinical and
Translational Research. AMIA Jt Summits Transl Sci Proc. 2013 Mar
18;2013:6-8.
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Discovery Research at Erlangen University
from three separate worlds to an ecosystem which integrates phenotype data and omics data
Co
mm
un
ica
tion
Se
rve
r
EHR
DWH
Feasibility Phase / Cohorte Identification
Study Protocol
Registration in Trial Registry
Patient Recruitment
Clinical Trial documentation
Pharmacovigilance
Scheufele E, Aronzon D, Coopersmith R, McDuffie MT, Kapoor M, Uhrich CA,
Avitabile JE, Liu J, Housman D, Palchuk MB. tranSMART: An Open Source
Knowledge Management and High Content Data Analytics Platform. AMIA Jt Summits
Transl Sci Proc. 2014 Apr 7;2014:96-101.
Athey BD, Braxenthaler M, Haas M, Guo Y. tranSMART: An Open Source and
Community-Driven Informatics and Data Sharing Platform for Clinical and
Translational Research. AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:6-8.
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Discovery Research at Erlangen University
from three separate worlds to an ecosystem which integrates phenotype data and omics data
Co
mm
un
ica
tion
Se
rve
r
EHR
DWH
Feasibility Phase / Cohorte Identification
Study Protocol
Registration in Trial Registry
Patient Recruitment
Clinical Trial documentation
Pharmacovigilance
Scheufele E, Aronzon D, Coopersmith R, McDuffie MT, Kapoor M, Uhrich CA,
Avitabile JE, Liu J, Housman D, Palchuk MB. tranSMART: An Open Source
Knowledge Management and High Content Data Analytics Platform. AMIA Jt Summits
Transl Sci Proc. 2014 Apr 7;2014:96-101.
Athey BD, Braxenthaler M, Haas M, Guo Y. tranSMART: An Open Source and
Community-Driven Informatics and Data Sharing Platform for Clinical and
Translational Research. AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:6-8.
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Integrating phenotype data and omics data for discovery research
E
T
L
T3+T4 T1+T2
Analysis
Let me „play“
with my data
„This is a great tool to support
translational research…“
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Precision Medicine Pharmacogenomic therapy recommendations
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Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
SMART Genomic Apps for Clinical Decision Support
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Warner JL, Rioth MJ, Mandl KD, Mandel JC, Kreda DA, Kohane IS, Carbone D, Oreto R, Wang L, Zhu S, Yao H, Alterovitz G. SMART precision
cancer medicine: a FHIR-based app to provide genomic information at the point of care. J Am Med Inform Assoc. 2016 Jul;23(4):701-10.
https://gallery.smarthealthit.org/vanderbilt-university-medical-center/smart-precision-cancer-medicine
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Interoperability Standards for Precision Medicine (HL7 FHIR)
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http://healthitanalytics.com/news/fhir-app-provides-precision-medicine-support-at-point-of-care
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Medical Informatics in Germany Quo Vadis?
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Methods Inf Med 2016; 55: –
http://dx.doi.org/10.3414/ME15-02-0005
Elenko E, Underwood L, Zohar D. Defining digital medicine. Nat Biotechnol.
2015 May;33(5):456-61.
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
From Medical Informatics to Biomedical Informatics
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Martin-Sanchez eet al. Methods Inf Med 2016; 55: Elenko E, Underwood L, Zohar D. Defining digital medicine. Nat Biotechnol.
2015 May;33(5):456-61.
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016 27
From Medical Informatics to Biomedical Informatics
Martin-Sanchez eet al. Methods Inf Med 2016; 55:
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Data scientist: the sexiest job of the 21st century. Davenport TH, Patil DJ. Harvard Business Review,
2012. Available at: https://hbr.org/2012/10/datascientist-the-sexiest-job-of-the-21st-century/
Biomedical Informatics & Data Science
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
… the dominant trait among data scientists is an intense curiosity
a desire to go beneath the surface of a problem,
find the questions at its heart, and
distill them into a very clear set of hypotheses that can be tested
Biomedical Informatics & Data Science
Data scientist: the sexiest job of the 21st century. Davenport TH, Patil DJ. Harvard Business Review,
2012. Available at: https://hbr.org/2012/10/datascientist-the-sexiest-job-of-the-21st-century/
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
From Medical Informatics to Biomedical Informatics
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
The role of the biomedical informatician in a translational medicine team
Establishing Data Integration Centres…
… requires bringing
many people from
different disciplines
to talk with each other
Sarkar IN. Biomedical informatics and translational medicine. J Transl Med. 2010 Feb 26;8:22
Reforming Medical Informatics in Germany - Basis for Precision Medicine :: Prokosch HU :: 11.10.2016
Thank you very much!
Medical Informatics
Biomedical Informatics (Medical Data Science)
Health Informatics
Bioinformatics
The challenge ahead . . .