dr gene elliott - intersystems
TRANSCRIPT
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© 2016 InterSystems Corporation. All rights reserved.
Genomics disrupts Clinical Laboratory
Information Systems (LIS)
Gene Elliott
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1 | © 2016 InterSystems Corporation. All Rights Reserved.
They were here before us
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Selection
Migration
Australopithecus to Homo 2010 & 2015
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Darwin and the Evolution of Species
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Screening for hereditary
diseases
Genetic inheritance
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Anthrax
Tuberculosis
Cholera
Disease theory
Viruses
PrionsRobert Koch
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New Infections
SARS EPIDEMIC, HONG KONG 2003
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Forensic pathology
Agriculture
Genetically Modified (GM) crops
Gene sequencing and insertions
Watch this space!
Other uses of genetic testing
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Recording stuff - Cave man to modern
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DNA
RNA
Proteomics
Polymerase chain reaction (PCR)
Sequencing – Sanger to high
throughput
Automation - miniaturization
Leap in speed – reduced cost
Technology
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Disruption set to continue
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BIG data
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Demand
Increasing due to knowledge and consumer
awareness
Expectations
Supply
Capacity
Commercial incentive still requires work
Fee for service?
Pressures = economic theory 101
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Pharmacogenomics
Gene therapy
Carrier testing
Prenatal testing
Newborn screening
Improved disease diagnostics
Risk assessment predictive and pre-symptomatic
Research
Clinical benefit
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Legacy systems
Request – result – report
New requirements
Data types and access - EMR
Sharing information – integration
Analysis – interrogation (and repeating)
Interpretation
Why this matters for the laboratory
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Legacy systems often have problems with
connectivity, scalability and flexibility
Demand for modular based, scalable, connected
systems
Flexible customization of function for optimized
workflow and efficiency
Interface with automation
Web-based
Next generation LIS
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Staff
Compliance with legislation
Monitoring and adapting
Shifting standard of care
Other challenges
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Clinical need in three areas
Rare and inherited diseases
Cancer – molecular identity
treatment
Health management – predictive personal medicine
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Data storage - personal
Data mining - explore
Data interpretation - strategy
Translation into meaningful
clinical use
Cognitive computing
Learning systems
Robotic process automation
Looking Forward
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Here be monsters
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Consent and chain of custody
Security of information – privacy/discrimination
Mitochondrial replacement – 3 parent babies
CRISPR – cutting and splicing
Sequencing replacement genes
Designer babies
Counseling and insight
Can technology be used to monitor?
Ethical issues
22
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And change
3 Certainties
Death
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We are fearfully and wonderfully
made!
“The power behind what matters”