mark hoffman, ph.d. director – translational medicine aug 24, 2007 shawnee mission south
TRANSCRIPT
Mark Hoffman, Ph.D.Director – Translational Medicine
Aug 24, 2007
Shawnee Mission South
Bio-sketch
• Raytown South High School 1987
• BA - William Jewell College 1991– Oxford University 1990
• Ph.D. - University of Wisconsin 1996– 1994 internship at DNAStar
• Postdoctoral training – National Animal Disease Center (USDA) 1996-1997
High school
• Science Honor Society– Knowledge Bowl
• Equal interest in science and social studies
William Jewell College
• Oxbridge Honors Program– Molecular Biology Major– Semester in England studying bioethics
• Electives in political science– Cold War politics– International relations
Undergraduate summers
• UMKC– Learned how to do basic Microbiology tasks
• KU– Learned biochemical techniques– Protein purification– Small research problems
• Refolding of purified proteins
• JC Penney commission sales
University of Wisconsin
• Department of Bacteriology
• Funded by biotechnology training program– NIH program provides tuition and stipend for
first 3 years– Requires internship in industry– Coursework outside major
Graduate school
• Years 1-2 – Classes– Identify research project
• Preliminary exams• Years 3 – x
– Research– Publications– Write thesis– Defend thesis
Staphylococcal enterotoxin A
• Causes food poisoning
• Activates immune system through unusual mechanism
• Are the two related?
Rhesus monkey umbilical cordblood stimulation assay
Molecular modeling
Sites associated with vomiting Sites associated with immune activity
Internship
• DNAStar
• Developed programs that perform DNA and protein sequence analysis– Immunology related algorithms to predict
immunogenic epitopes in proteins• Rational vaccine design
NADC• National Animal Disease Center – USDA
• Ames, Iowa
• Research on diseases of importance to agriculture and human food safety
• Biosecurity level 2 and 3 barns
EC 0157:H7• E. coli O157:H7
– Causes enterohemorrhagic colitis– 7% of cases progress to hemolytic uremic
syndrome
• Live oral vaccination
Clin. Diag. Immun. 1998 5:242-246
Cerner
• Software developer for Microbiology team– Respond to issues– Write programs
• Team leader– Responsibilities above + lead team
• Architect
• Solution Manager
Our VisionOur Vision• Begin where youwant to end:– Automate
enterprise workflow
– Connect the community
– Structure and analyze
– Create executable knowledge
• The objective: close the loop
Critical DecisionsCritical Decisions
.
Cerner Millennium Solutions PortfolioCerner Millennium Solutions Portfolio
Innovation You Can Trust™
©2003 Cerner Corporation. All rights reserved. This document contains confidential information which may not be reproduced or transmitted without the expressed written consent of Cerner.Version 3.0
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Public Health
Lab Result
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Fax to DOH
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Preparation of Internal IC
Reports by hand using multiple
systems
Automatic Reporting - HealthSentry
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“Pushed” to HealthSentry
users
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Daily Result Trending
2006
DATA COMPLETENESS Reportable cases (non-STD): March-Sept 2002
*Average over 6 key data fields
UNDER-REPORTING
0%
100%
200%
300%
400%
% I
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0%
20%
40%
60%
80%
100%
Conventional HealthSentry
0.0
0.5
1.0
1.5
2.0
2.5
3.0
Conventional HealthSentry
TIMELINESS
% F
ield
s C
om
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*Average over all reportables
*Increased overall reporting by 96%
Da
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to r
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ive
rep
ort
HealthSentry – Proven Results
Present role• Director of Translational Medicine at Cerner
Corporation– Genomics– Biobanking– Clinical Trials– Registries– HIV Insights
• Lead group that is developing:– New software module(s)– Controlled vocabulary
Interoperability
• “You say tomato, I say tomato”
• Same meaning, different pronunciation
• Clinical example:– NA, Sodium, Sod = same meaning– EC, E. coli, Escherichia coli
Variant of like concept
• E. coli O157:H7
• E. coli O111:H11
• Bacillus
• Bacillus anthracis
• Scope:• Molecular pathology• Clinical Genetics• Infectious disease• Cytogenetics• Cell surface markers
• Current state (Jun 2008):• 12,063 Concepts• 29,355 Relationships• 761 Genes• 1,239 Nucleotide variants • 6,923 Terms
• 5,516 Facets
• Available from: www.clinbioinformatics.org
• Included in the NCI Metathesaurus
The Clinical Bioinformatics Ontology (CBO)
Registered Users
Registered Users - Global
Unified Report
Default- uneditable
MultiMedia Foundation (MMF)
Document Results
Protocol
Policy Issues - Genetic Testing•SACGHS
•Ordering
•Reporting
•Interpretation
•Reimbursement
•American Health Information Community (AHIC)•Standardization
•Data exchange
•Family history
Clinical Utility of Genetic Testing
• Evaluating Genomics in Practice and Prevention• Working group – generates reports• Stakeholder group – guides priorities/communication of WG• Example: CYP2D6 genotyping in non-psychotic depression treated with
SSRI
• Encourage to extend literature review model to incorporate data and other analytical methods
Pharmacogenomics• Use of genetic information in the
selection of therapy.• Sometimes used to describe the
use of Genomics to identify drug targets.
• Mutations that affect ability to metabolize drugs– Adverse Reactions
• Halothane -> Malignant Hyperthermia - RYR1
– Dosage effects• Coumadin - CYP2C9
– No benefit• Codeine - CYP2D6
Opportunities
• Internships (High School or College)
• Clinical roles– Nurse– Medtech– Physician
• Technical roles– Software engineer– Systems engineer
Options during High School
Tier 2: Velocity Academic Interns (High School)
Summer following Sophomore year in high school
3.0 cumulative GPA or above Technical career interest or previous experience Cap of 10 associates for 2008
Tier 3: Student Associate 3.0 cumulative GPA or above in High School or College
Cap of 35 associates/summer
Decisions• Seemingly small decisions can have lasting
impact
• Try to open doors and avoid closing them
• A career in science doesn’t rule out:– Business– Policy– Management
• Never say “just” – about yourself or others
• Learn what you do well and what you don’t and then accept both