About the Webinar: Genomic testing has already become commonplace in oncology, but exponential growth in more comprehensive genomic tests, other innovative tests and testing approaches in oncology, as well as a number of other therapeutic areas is expected in the coming years. With the emergence of more complex, more expensive, and more promising tests, policymakers and healthcare providers may be challenged to provide these to patients at the pace of innovation. Don Husereau will describe what conditions are necessary for equitable access to advanced innovative testing, how major Canadian provinces are doing, and what more needs to be done in the coming years to benefit all patients.

1. A State of Readiness
Progress Report
Nov 2,2023
Towards the routine use of genome-based
testing in Canada’s major regions
CCSN Presentation, 2 Nov, 2023 (Virtual)

2. Disclosures
I have worked for public and private sector organizations that might be
interested in what I have to say.
2
Research support was provided by the following companies: Amgen Canada Inc., AstraZeneca Canada, Eli Lilly Canada Inc., GlaxoSmithKline Inc.
(GSK Canada), Janssen Inc./J&J, Pfizer Canada ULC,Thermo Fisher Scientific Inc., and Roche Canada.
Public / not-for-profit
Ontario Ministry 2019- Ÿ OntarioCED member 2015-2019
Ÿ PMPRBAdvisor /WorkingGroup member ŸCADTH
(pCODR EGP 2015-present, pERC committee member
2015-2017, Strategic advisor (early scientific advice / real-
world evidence),CDR)Ÿ PAAB consultant (code changes)
Ÿ HealthCanadaStrategic Policy Branch Ÿ Federal
InnovationCouncil ŸGenomeCanada Ÿ CD Howe
Institute Ÿ ISPOR Ÿ IHE Ÿ HTAi ŸCPhA ŸCHEO
Research Institute Ÿ Legal firms (as expert witness)
Private / for-profit
AbbVie Ÿ Amgen ŸAstraZeneca Ÿ Bei-Gene Boehringer
Ingelheim (Canada) Ltd. Ÿ Bristol Meyers Squibb ŸCelgene
Ÿ CSL Behring Ÿ FerringGlobal andCanadian
consultancies (Cornerstone, Evidera, IQVIA, Maple,
PDCI/McKesson, Pivina etc. ) Ÿ Danish LifeSciencesCouncil
Ÿ Eli Lilly Ÿ Elvium Ÿ Esai Ÿ GSK Ÿ Hoffman-La Roche Ÿ
Janssen Ÿ Leo Pharma Ÿ Lundbeck Ÿ Merck Ÿ Novo
Nordisk ŸOtsuka Ÿ Pfizer Ÿ Purdue ŸTaiho ŸTakeda Ÿ
ThermoFisher

3. Overview
3
• What is the issue?
• Approach to assessing Canada’s progress
• Findings
• Conditions for health system readiness
• Progress in Canada and individual provinces (BC, AB, ON, QC, NS)
• Priority actions for Canada and Quebec
• Q&A

4. Genetic testing
is a complex
intervention
4
These are context dependent-- Defined by interacting
components, reliance on behaviours, reliance on
groups/organizational levels, and allowance for
tailoring1,2
…
1. Craig, Peter, Paul Dieppe, Sally Macintyre, Susan Michie, Irwin Nazareth, and Mark Petticrew. 2008. “Developing and Evaluating Complex Interventions: The New Medical Research Council Guidance.” BMJ 337 (September): a1655.
https://doi.org/10.1136/bmj.a1655.
2. Skivington, Kathryn, Lynsay Matthews, Sharon Anne Simpson, Peter Craig, Janis Baird, Jane M. Blazeby, Kathleen Anne Boyd, et al. 2021. “A New Framework for Developing and Evaluating Complex Interventions: Update of Medical Research Council
Guidance.” BMJ 374 (September): n2061. https://doi.org/10.1136/bmj.n2061.
Context
Why Genome-Based Testing?
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5. Testing can serve many purposes
Uses of testing
• Diagnosis: e.g., CD20 and Ki67 to confirm diagnosis of diffuse large B-cell lymphoma (DLBCL)
• Prognosis: e.g.,TP53 mutation in chronic lymphocytic leukemia predicts poor outcomes and
response to therapy
• Prediction and monitoring: e.g., lack of (wild type) K-ras gene in (stage IV) metastatic colorectal
cancer predicts improved response and lower costs from targeted therapy
• Research: e.g., positivity for FGFR2-BICC1 fusion, MYC amplification, and NF2 inactivation in
cholangiocarcinoma can identify candidates for a trial
5

6. Testing is here and on the rise
6
U.S. oncology medicines that recommend or require pharmacogenomic testing on their prescribing labels prior to use1
Key Therapeutic areas
• Oncology
• Prenatal and newborn screening
• Neonatal care
• Rare disease
• Cell and gene therapies
• Autoimmune disease
• Psychiatry
• Ophthalmologic conditions
• Lung disease
• Neurologic disease
1. IQVIA Institute, Supporting Precision Oncology: Targeted Therapies, Immuno-oncology, And Predictive Biomarker-based Medicines, Aug 2020

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Creating Opportunities for Improving
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and Providers
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appointments
Subspecialist
appointments $ʻȻʂȳȺȹʁȺȵ
Pathology
ƒ AnatomicʻLJĦǟųƤƏƤūȅʻʻ $ʻȳȶʂȶȲȻʁȵȴ
ƒ Basic biochemistry $ʻȶʂȴȺȻʁȳȴ
ƒ ComplexʻŁŸƤłųőƘŸǒǟNJȅ $ʻȻʂȶȵȹʁȲȶ
ƒ Serology/immunology $ʻȳʂȷȴȲʁȹȴ
ƒ Other
$0.00
Diagnostic imaging $ʻȷȲʂȳȸȷʁȶȷ
Electrophysiology $ʻȴȴʂȲȴȹʁȻȹ
Genetic testing
ƒ SNP microarray $ʻȴȵʂȺȺȲʁȲȲ
ƒ Other genetic tests $ʻȴȷʂȳȷȳʁȹȻ
Other
ƒ MedicalʻLJųƤǟƤūNJĦLJųȅ $ʻȺȲȻʁȸȴ
ƒ DNA extractionʻ
andʻshipping
$ʻȴʂȷȶȳʁȲȲ
OT/anaesthesia costs $ʻȵʂȸȻȵʁȷȵ
Geneticist
appointment
(new or review)
- $ʻȳȺʂȵȲȵʁȸȲ
Geneticist
appointment review
- $ʻȳȶʂȸȶȴʁȺȲ
Genetic counselor
appointment
- $ʻȹʂȵȷȺʁȶȲ
Genetic counselor
appointment review
- $ʻȷʂȺȺȸʁȺȲ
WES (sequencing,
analysis, reporting)
- $ʻȺȲʂȲȲȲʁȲȲ
TOTAL costs $ʻȳȺȻʂȵȷȴʁȷȵ $ʻȳȷȲʂȲȹȳʁȸȲ
TOTAL number of
diagnoses per 40 patients
7 25
TƚłNJőƘőƚǟĦƏʻcost per
diagnosis (95% CI)
-2,182.27
(-5,855.02,129.92)
Table 1 Cost savings (avoidance) associated with whole-exome sequencing as an
early routine test for infants with suspected genetic disease, adapted from [21]
12
$ʻȴȵʂȺȺȲʁȲȲ
Testing can improve outcomes, and lower costs
7
Example
• Whole-exome sequencing
(WES) as an early, routine
clinical test for infants with
suspected monogenic
disorders1
• More effective (25 vs. 7
diagnoses)
• Less costly ($150,071.60 vs.
$189,352.53)
1. Stark Z, Schofield D, Alam K, et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequenc- ing with that of usual care overwhelmingly supports early use and reimbursement. Genetics in
Medicine 2017;19:867–74. doi:10.1038/gim.2016.221
Unmet Need in Canada
nd Care
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Assessments
and tests
Standard
diagnostic
care
Whole-exome
sequencing first
line
Genetics
appointments $ʻȴȴʂȴȵȻʁȴȶ
Subspecialist
appointments $ʻȻʂȳȺȹʁȺȵ
Pathology
ƒ AnatomicʻLJĦǟųƤƏƤūȅʻʻ $ʻȳȶʂȶȲȻʁȵȴ
ƒ Basic biochemistry $ʻȶʂȴȺȻʁȳȴ
ƒ ComplexʻŁŸƤłųőƘŸǒǟNJȅ $ʻȻʂȶȵȹʁȲȶ
ƒ Serology/immunology $ʻȳʂȷȴȲʁȹȴ
ƒ Other
$0.00
Diagnostic imaging $ʻȷȲʂȳȸȷʁȶȷ
Electrophysiology $ʻȴȴʂȲȴȹʁȻȹ
Genetic testing
ƒ SNP microarray $ʻȴȵʂȺȺȲʁȲȲ
ƒ Other genetic tests $ʻȴȷʂȳȷȳʁȹȻ
Other
ƒ MedicalʻLJųƤǟƤūNJĦLJųȅ $ʻȺȲȻʁȸȴ
ƒ DNA extractionʻ
andʻshipping
$ʻȴʂȷȶȳʁȲȲ
OT/anaesthesia costs $ʻȵʂȸȻȵʁȷȵ
Geneticist
appointment
(new or review)
- $ʻȳȺʂȵȲȵʁȸȲ
Geneticist
appointment review
- $ʻȳȶʂȸȶȴʁȺȲ
Genetic counselor
appointment
- $ʻȹʂȵȷȺʁȶȲ
Genetic counselor
appointment review
- $ʻȷʂȺȺȸʁȺȲ
WES (sequencing,
analysis, reporting)
- $ʻȺȲʂȲȲȲʁȲȲ
TOTAL costs $ʻȳȺȻʂȵȷȴʁȷȵ $ʻȳȷȲʂȲȹȳʁȸȲ
TOTAL number of
diagnoses per 40 patients
7 25
TƚłNJőƘőƚǟĦƏʻcost per
diagnosis (95% CI)
-2,182.27
(-5,855.02,129.92)
Table 1 Cost savings (avoidance) associated with whole-exome sequencing as an
early routine test for infants with suspected genetic disease, adapted from [21]
12
$PTUTGPSQBUJFOUT 6%
$ʻȴȵʂȺȺȲʁȲȲ

8. Testing has multiple impacts.
Why prepare for genomic medicine?
• Improved care – including better health outcomes, reducing harm from therapy, and improving
survival and quality of life.
• Better patient and care provider experiences –reducing the need for referrals and other
diagnostic tests, and improving time to diagnosis.
• Better science and economic growth – aiding scientific discovery and clinical trial enrollment,
creating commercial and investment opportunities as well as future-proofing Canada’s
healthcare workforce.
8

9. Testing has multiple impacts. (2/2)
Why prepare for genomic
medicine?
• More efficient / cost-effective care –
genomic medicine creates
opportunities to reduce costs OR
deliver care efficiently (i.e., cost-
effectively).
• Additional opportunities for
commercial development,
investments in research
9
Type Intervention Health Experience Spend
(Savings)
Value Ref
Prognosis
School-based
screening for
Tay-Sachs and
Cystic Fibrosis
22 more
/1000
screened
Faster diagnosis
/ care
$AUD
670M Cost neutral [1]
Diagnosis
Testing for
familial
hypercholester
olemia
Reduced
heart and
stroke
Faster diagnosis
/ care
($60M) Excellent [2]
Treatment
EGFR t790
resistance
mutation
(liquid based,
alone)
•Improved
response
• Less
toxicity
• Avoid biopsy
• Improve equity
of access to
testing
($9.3M) Excellent [3]
1. Warren E, Anderson R, Proos AL, et al. Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program. Genet- ics in Medicine 2005;7:484–94.
doi:10.1097/01.gim.0000178496.91670.3b
2. Maguire T. Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment. 2022;168.
3. Ontario Health (Quality). Cell-Free Circulating Tumour DNA Blood Testing to Detect EGFR T790M Mutation in People With Advanced Non- Small Cell Lung Cancer: A Health Technology Assessment. Ont Health
Technol Assess Ser 2020;20:1–176.

10. 10
Why a State
of Readiness
Progress
Report?

11. Why a Progress Report?
11
The progress report was created to:
• Objectively communicate current and future care gaps that
may impact
• Quality of health care
• Health system effectiveness efficiency
• Opportunities for innovation in healthcare
• Provide future direction for policymakers and researchers

12. Approach
12
Information gathering
• A Project Authority and regional teams consisting of
sponsor representatives informed scope and validated
findings
• A mixed methods (literature review and semi-structured
interview was conducted)
Create and Validate List of Conditions and Good Practices
• Working with National and International experts
• Peer-reviewed publication
Develop Progress Report
• Focus on unmet need, impact (humanistic, organizational,
economic), and specific policy recommendations
Communication
• Release materials to aid discussion
• Socialize the report

13. Information gathering
13
• Report is evidence-based with a
clear search strategy (Appendix A)
• Interviews were conducted with
interview form (Appendix B) and
interviewees acknowledged
International
• Vivek Muthu
• DavidThomas
• Daryl Spinner
• Lotte Steuten
Alberta
• Chris McCabe
• Michael Mengel
British Columbia
• Craig Ivany
• Arminee Kazanjian
Quebec
• Francois Sanschagrin
• EvaVillalba
• Jean Latreille
• Guy Rouleau
Nova Scotia
• Mike Carter
Ontario
• Chris Simpson
• Harriet Feilotter
• Christine Williams
• Raymond Kim

14. Layout of progress report
14
Introduction / context – why is this important?
(see previous slides)
Approach taken to create report
What Conditions Are Necessary for Health System
Readiness?
Progress report - State of readiness in AB, BC, ON, QC,
NS (based on mapping against conditions)
Impact of system readiness on healthcare and research
and a business case for change
Implications for policy, patients and research
with specific directions for provinces
Section 1
Section 2
Section 3
Section 4
Section 5
Section 6
Husereau D, Villalba E,
Steuten L, Muthu V, Thomas,
DM, Spinner DS, Ivany C,
Mengel M, Sheffield B, Yip S,
Jacobs, P, Sullivan T. Towards
the routine use of genome-
based testing in Canada’s
largest regions: A State of
Readiness Progress Report.
2023. 72 p. ISBN###
74 pages,
6 sections

15. 15
Accesstogenomictesting.ca

16. Conditions for readiness (Ch. 3)
16
Citation: Husereau, D.; Steuten, L.;
Muthu, V.; Thomas, D.M.; Spinner,
D.S.; Ivany, C.; Mengel, M.; Sheffield,
B.; Yip, S.; Jacobs, P.; et al. Effective
and Efficient Delivery of
Genome-Based Testing-What
Conditions Are Necessary for Health
System Readiness?. Healthcare 2022,
10, 2086. https://doi.org/10.3390/
healthcare10102086
Academic Editor: Simona Zaami
Received: 22 August 2022
Accepted: 12 October 2022
Published: 19 October 2022
Publisher’s Note: MDPI stays neutral
with regard to jurisdictional claims in
published maps and institutional affil-
iations.
Copyright: © 2022 by the authors.
Licensee MDPI, Basel, Switzerland.
This article is an open access article
distributed under the terms and
conditions of the Creative Commons
Attribution (CC BY) license (https://
creativecommons.org/licenses/by/
4.0/).
healthcare
Perspective
Effective and Efficient Delivery of Genome-Based Testing-What
Conditions Are Necessary for Health System Readiness?
Don Husereau 1,* , Lotte Steuten 2,3, Vivek Muthu 4, David M. Thomas 5,6, Daryl S. Spinner 7, Craig Ivany 8,
Michael Mengel 9 , Brandon Sheffield 10, Stephen Yip 11, Philip Jacobs 12 and Terrence Sullivan 13,14
1 School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON K1G 5Z3, Canada
2 Office of Health Economics, London SE1 2HB, UK
3 City Health Economics Centre (CHEC), City University of London, London EC1V 0HB, UK
4 Marivek Healthcare Consulting, Epsom KT18 7PF, UK
5 Garvan Institute of Medical Research, Sydney, NSW 2010, Australia
6 Omico, Sydney, NSW 2010, Australia
7 Menarini Silicon Biosystems Inc., Huntingdon Valley, PA 19006, USA
8 Provincial Health Services Authority, Vancouver, BC V5Z 1G1, Canada
9 Department of Laboratory Medicine Pathology, University of Alberta, Edmonton, AB T6G 2S2, Canada
10 William Osler Health System, Brampton, ON L6R 3J7, Canada
11 Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia,
Vancouver, BC V6T 1Z7, Canada
12 Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada
13 Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada
14 Gerald Bronfman Department of Oncology, McGill University, Montreal, QC H4A 3T2, Canada
* Correspondence: donh@donhusereau.com; Tel.: +1-6132994379
Abstract: Health systems internationally must prepare for a future of genetic/genomic testing to
inform healthcare decision-making while creating research opportunities. High functioning testing
services will require additional considerations and health system conditions beyond traditional
diagnostic testing. Based on a literature review of good practices, key informant interviews, and
expert discussion, this article attempts to synthesize what conditions are necessary, and what good
practice may look like. It is intended to aid policymakers and others designing future systems
of genome-based care and care prevention. These conditions include creating communities of
practice and healthcare system networks; resource planning; across-region informatics; having a
clear entry/exit point for innovation; evaluative function(s); concentrated or coordinated service
models; mechanisms for awareness and care navigation; integrating innovation and healthcare
delivery functions; and revisiting approaches to financing, education and training, regulation, and
data privacy and security. The list of conditions we propose was developed with an emphasis on
describing conditions that would be applicable to any healthcare system, regardless of capacity,
organizational structure, financing, population characteristics, standardization of care processes, or
underlying culture.
Keywords: diagnostic molecular pathology; genetic testing; diagnostic services; technology assess-
ment; biomedical; genetic services; financial support; clinical governance; health technology; health
care innovation
1. Introduction
Clinical decisions are increasingly informed by biomarker-defined subsets of patients,
forming the basis of precision medicine. The measurement of laboratory-based biomarkers
may serve one or more purposes for patients and healthcare providers—including iden-
tifying who has disease or may develop future disease, monitoring health, monitoring
response(s) to therapy, predicting who may most benefit or be harmed by therapy, or
predicting how disease is likely to progress [1]. Increasingly, advanced tests are being used.
Healthcare 2022, 10, 2086. https://doi.org/10.3390/healthcare10102086 https://www.mdpi.com/journal/healthcare
• Good practices created through
literature review and interviews with
13 National and 4 International
Experts
• List developed, pared down and
peer-reviewed
• Published October, 2022

17. Why conditions?
Infrastructure
What is the nature of the problem?
• Inconsistent service delivery,
inequitable care delivery
• Unsustainable care delivery
• Duplication of testing, inconsistent
quality, no information for evaluation
17
What is the solution / condition?
• Creating communities of practice and
healthcare system networks
• Resource planning
• Informatics – linked information
systems

18. Examples of good practice
Informatics
The UK Department of Health Social
Care committed “£4 billion over a five-
year period (2016-21) in digital
technology, systems and infrastructure, to
provide the health and care system with
the digital capability and capacity it
needs . . . .1
18
Resource planning
“The US Government Accountability
Office conducted a study forecasting a
future shortfall of genetic counsellors
and medical geneticists in general, and
by geographic region.”2
(1) Dong, O.M.; Bates, J.; Chanfreau-Coffinie , C.; Naglich, M.; Kelley, M.J.; Meyer, L.J.; Icardi, M.; Vassy, J.L.; Sriram, P.; Heise, C.W.; et al. Veterans
Affairs Pharmacogenomic Testing for Veterans (PHASER) Clinical Program. Pharmacogenomics 2021, 22, 137–144
(2) Barwell,J.;Snape,K.;Wedderburn,S.TheNewGenomicMedicineServiceandImplicationsforPatients.Clin.Med.2019,19,273–277

19. Additional conditions for readiness
Operations
What is the nature of the problem?
• Technology creep; lack of intra-
operability; duplication
• Low value care
• Uncoordinated care; delays
• Confusion , lack of information
regarding test availability
19
What is the solution / condition?
• Single entry/exit point for innovation
proposals
• Evaluation function
• Service models – coordinate care
• Tools for awareness and care
navigation

20. Additional conditions for readiness
Health care environment
What is the nature of the problem?
• Care lags behind pace of innovation
• Care interruptions, wait times, or
unsustainable care
• Medical error, low quality care, care lagging
behind pace of innovation
• Substandard care , negligence and legal
liability
20
What is the solution?
• Integration of innovation and care
delivery
• Financing approach
• Education and Training
• Regulation
• Data privacy legislation

21. 21
Canada’s
progress

22. How did Canada do (Ch 4)?
22
• Overall, Canada appears to be making some
progress
• Partially ready for a future of genomic
medicine.
• Important gaps are
• Need for linked information systems and data
integration (informatics);
• Evaluative processes that adhere to HTA
principles of timeliness transparency and
engagement;
• Navigational tools for care providers;
dedicated funding to facilitate rapid
onboarding or a funding formula that supports
test development and proficiency testing; and
• Broader engagement with a broader set of
innovation stake-holders (e.g., patients,
administrators, IT professionals,
implementation and genome scientists, public
and private sector innovators and others).

23. 23
Quebec
British
Columbia
Ontario
Nova Scotia

24. How did Quebec do?
24
Needs Improvement
Partially Established
Established
Takeaway: Quebec began taking
necessary steps to reform its
approach to genome-based testing
over a decade ago. There are still
opportunities to improve the
optimal use of testing in Quebec
À retenir :
Le Québec a commencé à prendre
les mesures nécessaires pour
réformer son approche des tests
génomiques il y a plus de dix ans.
Il existe encore des possibilités
d'améliorer l'utilisation optimale
des tests au Québec.

25. Peer-reviewed publication – main report
25
• A synopsis of the report (no
grades or infographics)
• Published June 1, 2023 in Current
Oncology

26. Summary
26
• Canada's major healthcare regions are moving toward a state of
readiness for genomic medicine
• Although using different approaches and at different rates.
• Highlights the many challenges that health systems face when they are
required to quickly respond to a disruptive technology.
• There may be opportunities through recent rare disease funding to create
necessary infrastructure for genomic testing.

27. Thank you.
27
Don Husereau
don.husereau@gmail.com
613-299-4379
@DonHusereau
https://www.resilienthealthcare.ca/partner-
projects/nz6kgde0aj66f6k8x7z7gthhf8xvb6
Briefing
material
Peer-reviewed
article
Today’s Slides
https://www.mdpi.com/1718-7729/30/6/408

28. Supporting materials
28
Four page Executive summaries in French
and English (same as report + sponsorship
acknowledged)
Two-page provincial briefs in English
for each province (plus QC in french)
Master slide deck (in development)
Two peer reviewed reports (one
published, one in development)

29. Briefing report Layout
29
• 2 pages, 4 sections
• Why the province needs to be
prepared (impacts, Chapter 5)
• Summary of strengths and
weakness of each province with
an accompanying infographic
(progress , Chapter 4)
• Policy priorities and implications
(implications, Chapter 6)
• Description of conditions that
were met (progress, Chapter 4)

30. Special Issue
30
• Special Issue Health System Readiness for Genomic Medicine in
Oncology”
• Deadline for submission 25 June 2023
• The aim of the Special Issue is to highlight new approaches intended to
make health systems ready for the future of genomic medicine. It is
intended to highlight the increasingly important role of the laboratory
function and how this must evolve to be most beneficial to patients.
• https://www.mdpi.com/journal/curroncol/special_issues/Health_System_
Readiness_Genomic_Medicine_Oncology