© 2016 InterSystems Corporation. All rights reserved.

Genomics disrupts Clinical Laboratory

Information Systems (LIS)

Gene Elliott

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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”