Hilary Lemass of Genomics Medicine Ireland (GMI) discusses GMI's work with DNA and data. GMI was founded in 2015 with AbbVie partnership and $40M in funding to build genomic sequencing capability and disease-specific population databases in Ireland. GMI aims to position Ireland as a center for population genomics research, accelerate medical research, and discover new drug targets to benefit Irish patients. GMI collects participants' genomic data through blood samples and lifestyle/health data to identify trends and link variants to diseases for research into conditions like cancer, neurology, and rare diseases. GMI protects personal data through pseudonymization, encryption, access controls, and data security practices.

1. From DNA to Data
Hilary Lemass Ph.D.
Data Privacy Manager GMI

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The Agenda
Who we are
Why we do it
What we do
How we do it

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Genomics Medicine Ireland
Founded 2015
AbbVie Partnership
(Jan 2017)
Building Next
Genome sequencing
capability in Ireland
Leveraging Ireland’s
homogenous
population
Building world class
disease- specific
population genomic
database
$40M Series A
(Oct 2016)
Who we are

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Position Ireland as a centre of excellence in
population genomics & research
Create an environment to accelerate
next generation of medical research
Discover novel gene & drug targets
Benefit to Irish patients from discoveries
Benefitting Ireland

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Development for Deep
Disease-Specific and Cross-Disease Research
Confidential © Genomics Medicine Ireland Limited, 2018.
Cardiovascular
Rare
Diseases
Auto-Immune
Oncology
Neurology
Controls
Additional
Diseases
Why we do it

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Your DNA Converted into DataWhat we do
in your DNA
When sequenced your
DNA is equivalent to
Common
variants
A number of variants have
been linked with disease
Most variants have
unknown effects

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Health and Lifestyle Data = Phenotypic Data
Diet Ancestry
Health
Supplements
Alcohol
Consumption
Allergies
Smoking
History
Caffeine
Consumption
Exercise
Levels
Education
Level
Sleep
Levels
Why we do it

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How we do it
You present at our
wellness or complex/
rare disease site
Research Ethics
Committee approval
The onsite researcher
collects your lifestyle, health
data and blood sample
Samples tracked with
unique barcode identifiers
The lawfulness of processing:
You review our information
leaflets and sign the
informed consent
You Volunteer to Participate

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Your DNA is extracted from the
blood sample and then whole
genome sequenced
Research site enters all your
phenotypic data into GMIs
data capture system
How we do it
Your phenotypic data is combined with the
3.2 billion letters of your DNA to identify trends
in the DNA/data of the sampled population
The Process

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Pseudonymisation & Encryption
What is GMI doing to protect your personal sensitive data?
How we do it
A PN number is
assigned at study site
PN is encrypted
to iPN
You volunteer
Suitable & Specific Safeguards

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eCRF Data
Capture System
GMI pseudonymised
phenotype database
Phenotypic data plus
data derived from DNA
How we do it
Combined data
Phenotypic Data Entry

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Best-in-class technology solutions
User
authentication
laptops
encrypted
Multiple isolated
networks
2 factor
authentication
VPC
Change
management
& control
Policies
Procedures
Analytics
system not
internet
accessible
DP annual
training on line
& in-house
How we do it Internal Technical Security

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Access requires
approval and a legally
binding contract
How we do it
Authorised commercial
partners:
1. ID check before access
2. Limited to virtual desktop
computers hosted inside GMI
3. Computer never connect directly
to GMI’s analytics systems
4. Access granted & approved
by GMI
5. All activity logged and tracked
External Security
Encryption keys only
accessible from
specific servers

14. Thank You