Day 1: RD 2022 Fall Conference Patient Information: Registries and Beyond What governance procedures for data collection, data analysis, and data sharing are needed to advance optimal use of data? How can we create a pan- Canadian initiative to provide harmonized consent language (or core elements), clear custodianship of the data, efficient and equitable access procedures? Ma'n H. Zawati, McGill University What are open access patient platforms that can support patient submission of patient-relevant information and allow for patient control over use of theirinformation, and patient input on choices related to their care? Katheron Intson, University of Toronto

1. PATIENT REGISTRIES AND
DATA GOVERNANCE
Ma’n H. Zawati
Assistant Professor, Executive Director
Centre of Genomics and Policy, McGill University

2. IMPORTANCE OF
DATA
GOVERNANCE
Data Governance → key
component of the design,
implementation, and
long-term sustainability
of patient registries
Need for data
interoperability and
standardization
Data governance ensures
data can be shared in a
facilitated manner, while
ensuring ethical and legal
safeguards are in place

3. DATA INTEROPERABILITY
• Registry data are most useful if standardized and
interoperable
• Standardized core consent elements can ensure
standardization and interoperability of datasets
• Prospective data collection
• Retrospective data integration
• Making use of existing “legacy” datasets
• Standardized retrospective filters

4. NEW
PUBLICATION

5. DATA STORAGE AND MANAGEMENT
Patients’ privacy and confidentiality are key concerns in the
management and operation of patient registries
Data privacy and security
safeguards and protections are
essential
Technical safeguards
Administrative safeguards
Physical safeguards

6. DATA ACCESS
• Importance of oversight
procedures for data access
• Policies and procedures for
handling data access requests
must be transparent, fair and
objective
• Data access procedures must
comply with all applicable
ethical, legal, and regulatory
requirements

7. CREATED
AND
SUSTAINED

8. 1
Copyright
©
Varient
2022
Copyright © Varient 2022
www.varientapp.com
RARE DISEASE PATIENT COMMUNITY-
SOURCED RWE PLATFORM
CORD Fall Conference November 2022
Katheron Intson, CEO
kath@varientapp.com

9. 2
Copyright
©
Varient
2022
400,000,000
people are living with
10,867
life-threatening rare diseases1
96% of rare patients have no standard
treatment.
86% of caregivers turn to web forums for
medical advice2.
50% of all doctor’s visits are expected to
involve genetic assessments by 20253
92% of rare diseases are suspected to have a
genetic basis.1
1The Power of Being Counted, RareX, 2022
2Children with Rare Conditions, Nicholl et al. 2017
3Healthcare and Life Science CIO’s Genomics Series, Gartner, 2022
Genetic testing has
identified a
massive, global population

10. 3
Copyright
©
Varient
2022
Genetic stratification to inform rare
disease treatment is best practice

11. 4
Copyright
©
Varient
2022
We help rare patients
share medication insights
with one another
We crowdsource medication efficacy data among
patient groups, allowing users to find new insights
for getting symptoms under control.

12. 5
Copyright
©
Varient
2022
Develops new
treatments for
patients
Provides treatment
insights to users
provide approved and off-
label treatment feedback
Users
350+
communities waitlisted
Varient facilitates a continuous development-iteration
cycle between patients and pharma
1200+
users waitlisted
Provides data + informs users
Pharma

13. 6
Copyright
©
Varient
2022
Katheron Intson,
CEO
www.varientapp.com
kath@varientapp.com
Rare disease management:
No need to start from 0.