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This program is preliminary and subject to change.

 

FRIDAY JUNE 16

Business Meetings

 

 

 

0800-1600
CACB Oral Exams

 

 

 

 

SATURDAY JUNE 17

Business Meetings

 

 

 

0800-1230
CACB Oral Exams

 

0900-1700
CSCC 2022-2023 Council Meeting

 

1400-1700
CACB 2022-2023 Board of Directors Meeting

 

 

 

 

SUNDAY JUNE 18

Business Meetings

 

 

 

0800-1200
CACB Oral Exams

 

1200-1600
CCMG Board of Directors Meeting

 

Breakfast

Breakfast on your own

 

 

 

Morning

CCMG Program

CSCC Program

 

 

 

 

 

Enjoy Winnipeg!

 

Click here for Winnipeg Tourism information

0800-0930
Scientific Workshops – Morning Part 1

0945-1115
Scientific Workshops – Morning Part 2

Lunch

Lunch on your own

 

 

 

1115-1300 CSCC Charity Run/Walk

Everyone welcome!

 

 

 

Afternoon

1300-1600
CCMG Trainee Program

 

1300-1615
Media Training Workshop

  • W181300-A Messaging for the Media – A special workshop to learn how to balance the integrity of scientific terminology while simplifying your message. Through interactive case studies, mock interviews, and interactive discussions, you will be equipped to confidently interact with media and non-scientific personnel!

1645-1745 Lightning Talks

 

 

 

Evening

1745-2200 Joint Social Evening at the Canadian Museum of Human Rights

 

 

 

 

MONDAY JUNE 19

Business Meetings

 

 

 

 

Breakfast

CCMG Program

CSCC Program

0730-0830
Breakfast Seminar: Assigning Clinical Significance to Somatic Mutation for NGS Reporting and NMP at the Jewish General Hospital in Montreal to aid in the interpretation of NGS results for heme cases

0730-0830
CSCC Breakfast Roundtables

0830-0900 Shuttle bus to Convention Centre

 

 

 

Morning

0900-1200 Joint Symposium

0900-1200
Joint Symposium: The Current State of Perinatal Testing in Canada: Approaches, Consequences, and Ethics

 

 

 

Lunch

Lunch, Exhibits and Poster Viewing

 

 

 

Afternoon

1400-1700
CCMG Workshop – Guidelines, Interesting Cases and Abstract Oral Presentations

1315-1415
CSCC Industry Workshops

1430-1530
CSCC Top 5 Posters – Oral Presentations

1545-1645
CSCC Industry Workshops

 

 

 

Evening

1700-1900 Joint Wine & Cheese in Exhibit Hall

  • 1915 Last bus shuttle back to Fairmont Hotel

 

 

 

 

TUESDAY JUNE 20

Business Meetings

 

 

 

 

Breakfast

CCMG Program

CSCC Program

0730-0830
CCMG Awards Breakfast

0730-0830
CSCC SIGs & Committees

0830-0900 Shuttle bus to Convention Centre

 

 

 

Morning

0900-1200
CCMG Symposium: New approaches to early detection of genetic conditions and risk

0900-1200
CSCC Symposium: Autoimmune diseases testing: a Canadian update of an high complexity sector

 

 

Lunch

Lunch, Exhibits and Poster Viewing

 

 

 

Afternoon

1330-1630
CCMG Symposium: What’s new in cancer?

 

1330-1630
CSCC Symposium: Future tools and knowledge for predictions, trends and decisions

 

1630-1700
CSCC & CACB Awards

 

1700-1800
CSCC Annual General Meeting & Town Hall

 

 

 

Evening

1900-2200 Joint Gala Banquet

 

 

 

 

 

 

WEDNESDAY JUNE 21

Business Meetings

 

 

 

0730-0830

Clinical Biochemistry Editorial Board

 

1600-1700
CSCC 2023-2024 Council Meeting

 

1300-1500
CACB 2023-2024 Board of Directors Meeting

Breakfast

CCMG Program

CSCC Program

0730-0830
CCMG Membership: Genetic Testing Orderables: Debate, Discussion and Dining

 

0730-0830
CSCC SIGs & Committees

 

 

 

Morning

0900-1200
CCMG Symposium: Unique disease mechanisms

0900-1200
CSCC Symposium: Spotlight on the epidemic of non-alcoholic fatty liver disease

 

 

Lunch

 

1200-1300
CACB Annual General Meeting

 

 

 

Afternoon

 

CSCC SIGs & Committees

 

 

 

 

Accreditation Information

 

For CCMG attendees only:

This event is an Accredited Group Learning Activity (Section 1) as defined by the Maintenance of Certification Program of the Royal College of Physicians and Surgeons of Canada, and approved by the Canadian Association of Pathologists. You may claim a maximum of 12 hours (credits are automatically calculated).

 

For CSCC attendees only:

This event is an Accredited Group Learning Activity as defined by the CSCC/CACB Professional Development Program.

Cette activité est une activité de formation collective agréée selon la définition établie par le Programme de perfectionnement professionnel de la SCCC et l’ACBC.

 

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CCMG Trainee Program – Cultivating Leadership
Sunday June 18, 1300-1600

 

Dr. Andrea Guerin,

Dr. Joanna Lazier,

Dr. Ronald Agatep,

Dr. Karen Niederhoffer,

Dr. Lauren Chad,

Dr. Natascia Anastasio,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Recognize the importance of developing leadership skills throughout their careers.
  • Identify steps to develop leadership in education and administration.
  • Develop a career plan that includes educational and administrative scholarship.

 

Educational leadership

Dr. Andrea Guerin,

 

Administrative leadership

Dr. Joanna Lazier,

 

Microtalks: Putting it into practice – Becoming a mentor

Dr. Ronald Agatep,

 

Microtalks: Putting it into practice – Teaching tips and tricks

Dr. Karen Niederhoffer,

 

Microtalks: Putting it into practice – Advocacy in Genetics

Dr. Lauren Chad,

 

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Opening Keynote: Growing A Culture Of Allyship: A Journey Towards Indigenous Reconciliation
Sunday June 18, 1830-1930

 

Patricia Birk, Professor and Head, Department of Pediatrics and Child Health, Health Sciences Centre Winnipeg

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Explain how the historical, political, and social context has resulted in the health inequities experienced by Indigenous communities served by the Canadian health care system.
  • Discuss how to integrate concepts related to colonization, racism, and health inequities in clinical teaching situations involving Indigenous patients.
  • Describe models of clinical practice with Indigenous patients and families that incorporate principles of trauma informed care, harm reduction, and anti-racism.

This presentation will provide an overview of the historical, political, and social factors contributing to the current health inequities experienced by Indigenous communities served by the Canadian health care system. It will highlight how academic departments can model concepts of Indigenous reconciliation and anti-racism in clinical practice, teaching and administration.

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CCMG Breakfast Seminar: Assigning Clinical Significance to Somatic Mutation for NGS Reporting and NMP at the Jewish General Hospital in Montreal to aid in the interpretation of NGS results for heme cases
Monday June 19, 0730-0830

 

Assigning Clinical Significance to Somatic Mutation for NGS Reporting

Dr. Shuba Krishna, Ph.D. Director, Scientific & Clinical Knowledgebase, Roche Diagnostics,

 

Assigning significance to somatic mutations in a tumor type in terms of impact on therapy, prognosis, and diagnosis allows us to understand their actionability in a clinical context. The AMP/ASCO classification schema has guidelines to bin variants into a 5 tier system based on strength of clinical evidence ranging from drug approvals and recommendations to clinical evidence from well powered clinical trials and smaller studies to preclinical evidence and finally, unknown significance. The AMP guidelines can be applied to solid and heme tumors alike, with the latter displaying inherent complexity that contributes to diagnosis, prognosis, and therapeutic recommendations. In addition, combinations of mutations e.g. resistance mutations also lend themselves to tiering by this system.

 

NMP at the Jewish General Hospital in Montreal to aid in the interpretation of NGS results for heme cases

Dr. Luca Cavallone, Clinical specialist in medical biology – OPTILAB MUHC,

 

During the second half, Luca will highlight challenges in interpreting heme cases. Then he will share his experience using NMP at the Jewish General Hospital in Montreal to aid in the interpretation of NGS results for heme cases.

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CCMG/CSCC Joint Symposium: The Current State of Perinatal Testing in Canada: Approaches, Consequences, and Ethics
Monday June 19, 0900-1200

 

 

Abdul Noor, Mount Sinai Hospital, Toronto

Graham Sinclair, BC Children’s Hospital, Vancouver

Alice Virani, Director of the Clinical Ethics Service for the Provincial Health Service Authority of BC

 

Overall Learning Objectives:

At the end of the symposium the participants will be able to:

  • Appraise the system impacts of non-invasive prenatal screening.
  • Describe the current state of perinatal screening in Canada.
  • Recognize the ethical considerations of perinatal genetic testing.

 

The Impact Of Increased Uptake And Expansion Of NIPS On Downstream Diagnostic Testing

Abdul Noor, Mount Sinai Hospital, Toronto

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Assess the effectiveness of NIPS
  • Describe the expanded use of NIPS.
  • Identify the challenges associated with inconclusive NIPS results.

Non-Invasive Prenatal Screening (NIPS) was first introduced in 2011 as a screening test to identify common fetal trisomies, including trisomies 13, 18, and 21. Over time, NIPS has become more widely available, with over 90 countries currently offering the test. Recently, the American College of Medical Genetics and Genomics (ACMG) recommended NIPS as the preferred screening method for all pregnant patients to detect trisomies 13, 18, and 21, which is expected to further increase its use for prenatal screening.
In recent years, the scope of NIPS has expanded to include the detection of sex chromosome anomalies (SCA), microdeletion and microduplication syndromes, as well as rare autosomal trisomies (RATs). The expanded use of NIPS has resulted in an increase in follow-up diagnostic testing. This talk will discuss diagnostic testing results from Sinai Health System (SHS) laboratory to show the performance of NIPS and highlight the challenges associated with inconclusive NIPS results.

 

Newborn screening in Canada and Future Directions

Graham Sinclair, BC Children’s Hospital, Vancouver

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Assess the drivers for change in conditions screened.
  • Describe the increasing role of genetic testing in newborn screening.

This presentation will review the current status of newborn screening programs across Canada and provide examples of the increasing use of genetic testing as part of the screening process. We will review large scale international efforts to evaluate practical, social, and ethical issues with respect to genomics in screening and consider novel therapies as drivers of change in this context.

 

Ethical Considerations In Perinatal Screening

Alice Virani, Director of the Clinical Ethics Service for the Provincial Health Service Authority of BC

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Describe the key ethical considerations that arise in the perinatal genetic testing context.
  • Understand the ethics of resource allocation and how it relates to equity and justice in the context of perinatal genetic testing.
  • Apply methods of ethical decision making to complex perinatal genetics situations.

Using cases and examples, this session will provide an overview of the key ethical considerations in perinatal genetic testing. The presentation will outline questions and concerns raised about such testing from an equity, access and disability ethics lens. Participants will understand the key ethical values and approaches that can help resolve ethical issues on a clinical and systemic level.

 

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CCMG Symposium: New approaches to early detection of genetic conditions and risk
Tuesday June 20, 0900-1200

 

Pranesh Chakraborty,

Patrick Frosk,

Tamar Rubin,

Farshad Niri,

Patient Vignette

 

In Utero Enzyme Replacement Therapy Trials

Pranesh Chakraborty,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Describe the early experience from a Phase 1 clinical trial of in utero enzyme replacement therapy for Lysosomal Storage Diseases.

Enzyme Replacement Therapy (ERT) has improved outcomes for patients with a number of Lysosomal Storage Diseases (LSDs). For some LSDs, very early onset of pathology in the fetal period, anti-drug immune responses, and inability for ERT to penetrate the central nervous system have complicated therapy or limited effectiveness. Providing in utero enzyme replacement therapy (IUERT) is one one potential approach to addressing these issues. I will describe Lysosomal Storage Diseases (LSDs) with emphasis on Pompe Disease, describe the experience with IUERT to treat a patient with Pompe Disease during fetal life, and describe the early experience from the UCSF Phase 1 clinical trial of IUERT for LSDs.

 

Carrier Screening In Manitoba Founder Populations

Patrick Frosk,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Identify the 4 main founder populations found in Manitoba.
  • List at least three conditions unique to these founder population.
  • Describe the utility of targeted carrier screening.

Manitoba is home to a number of founder populations with distinctly different genetic health care needs compared to the general Canadian population. The session will focus on highlighting some of the unique conditions present in these populations and will discuss the need for focused preconception carrier screening programs to help address their reproductive needs.

 

Newborn Screening For Immunodeficiency In Manitoba

Tamar Rubin,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Define SCID and CID, and delineate the burden of primary immunodeficiency in Canada and in Manitoba.
  • Describe the development and implementation of a population-specific immunodeficiency newborn program in Manitoba.
  • Be aware of the therapeutic options for treatment of SCID and CID, and the importance of precise genetic diagnosis.
  • Appreciate the impact of newborn screening on clinical outcomes in severe primary immunodeficiency.

In this presentation I will review how awareness of increased immunodeficiency frequency, as well as unique forms of immunodeficiency in Manitoba led to a targeted program of newborn screening. I will review outcomes of newborn screening for immunodeficiency in Manitoba to date and discuss how newborn screening has impacted natural history of the disease locally and globally.

 

Newborn Screening For Spinal Muscular Atrophy In Alberta: First-year Experience

Farshad Niri,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Understand the importance of newborn screening for Spinal Muscular Atrophy (SMA).
  • Gain insight into the first-year experience of newborn scning for SMA in Alberta, including successes and challenges.

During my presentation, I will discuss the development and implementation of newborn screening for SMA in Alberta, including evaluating the assay’s performance. This will be achieved by analyzing the results obtained from screening 50,000 newborns in the initial one-year pilot program.

Patient Vignette

 

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CSCC Symposium: Autoimmune Diseases Testing: A Canadian update of an high complexity sector
Tuesday June 20, 0900-1200

 

Nicolas Tétreault, (Chair)

Speakers:

Dana Bailey, Dynacare

Vathany Kulasingam,

May Choi,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Explain the importance of ANA reporting standardization at the regional, provincial and national level.
  • Outline one approach to analytical verification of line immunoblot assays and understand practical considerations for implementation and oversight.
  • Discuss machine learning as a novel approach in biomarker interpretation for the diagnosis, prediction and prognosis of autoimmune diseases.

Autoimmune disorders cause a highly heterogenous array of diseases. With an aging population more prone to these pathologies, coupled with the recent observation that autoimmune disease may be increasing in the general population, the quality of diagnostics tools is of tremendous importance. Laboratory testing plays a critical role in identifying these pathologies. Testing for autoantibodies as proven to be a cornerstone of the patient evaluation. From ANA (Antinuclear antibodies) to ENA (Extractible Nuclear Antibody) and to other specific autoantibodies, this field is characterized by high complexity testing and interpretation. Furthermore, there is the necessity of close collaboration between clinical biochemists and physicians in order to reconciliate patient signs and symptoms with laboratory results. As constant improvement of testing method is at the heart of our mission as laboratory medicine specialists, we must ask ourselves if there is a way to improve autoimmune testing. This session will shed light on 3 different ways to reach this goal.

 

Standardizing Ana Reporting In Canada – Institute For Quality Management In Healthcare

Dana Bailey, Dynacare

 

Despite worldwide acceptance of ICAP recommendations by clinical laboratories, it is unknown how heterogeneous the interpretation and reporting of HEp-2 IFA is across Canada. In this seminar, we will describe the landscape of HEp-2 IFA reporting focusing on Ontario and Canadian laboratories. Additionally, we will outline the ICAP recommendations for reporting, and articulate what is required for Canadian labs to reach standardization. We will include audience polls and feedback regarding implementation concerns and barriers to change.

 

Immunoblot Implementation: Validation, Reporting and Positivity Rate

Vathany Kulasingam,

 

This presentation will outline one approach to analytical validation/verification of line immunoblot assays (LIA), discuss reporting strategies for autoimmune diagnostic tests, appreciate practical considerations for implementation and oversight for LIA and review 2-year retrospective data analysis of patient results.

 

 

May Choi,

 

We will discuss how biomarkers and machine learning can be used to address the current challenges of autoimmune rheumatic disease detection, prognosis, and treatment.

 

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CCMG Symposium: What’s new in cancer?
Tuesday June 20, 1330-1630

 

Harriet Feilotter,

Raymond Kim,

Catherine Goudie,

Paola Marcato,

Patient Vignette

 

Current and Future Landscape of Molecular Pathology in Canada

Harriet Feilotter,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Identify areas of growth for molecular pathology in Canada.
  • Assess current opportunities for molecular pathology standardization.
  • Assess the ability of the Canadian health care system to adopt new molecular pathology biomarkers for clinical use.

Despite rapid growth in clinical adoption of molecular pathology biomarkers, this area of laboratory medicine remains challenging for a number of reasons. This talk will focus on some of these areas, and highlight efforts in Ontario and other jurisdictions to address some of the gaps that impact access to training and research, implementation of new biomarkers, and standardization of tests used for patient care.

 

Collaborating In Genetics, Cancer As A Model

Raymond Kim,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Identify current issues in the cancer genetics community in Canada.
  • Compare genetic testing criteria across provinces.
  • Consider how genetics can bring and lead multiple stakeholders together.

This presentation will review a number of cancer genetics initiatives in Canada including the CCMG Cancer Genetics Community of Practice, Provincial Genetics Program in Ontario, and the Ontario Hereditary Cancer Research Network. It will present various collaborative models and stakeholder participation in the broad field of cancer genetics.

 

Algorithm for Determining Genetic Testing in Pediatric Cancers

Catherine Goudie,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Recognise clinical features that raise suspicion for cancer predisposition syndrome in children.
  • Describe advantages and challenges associated with genetic risk prediction strategies in pediatric oncology.
  • Reflect on the use of eHealth to assess likelihood of cancer predisposition syndromes in pediatric oncology.

This session will provide a practical overview of cancer predisposition syndrome risk assessment strategies in pediatric oncology. I will introduce an eHealth decision-support tool (called MIPOGG) which is used by clinicians in Canada and abroad to screen for cancer predisposition syndromes in children with cancer. I will discuss the advantages and challenges of various genetic risk assessment approaches contextualized in a range of oncology settings.

 

Emerging Role Of Long Non-coding RNAs As Novel Cancer Biomarkers And Therapeutic Targets

Paola Marcato,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Assess the poential future impact of long non-coding RNAs in the clinic for diagnosis, prognosis, and treatment.
  • Distinguish how long non-coding RNAs are different than coding genes, which makes the role in cancer distinct.
  • Describe what long non-coding RNAs are and the roles they play in cancer.
  • Reflect on how assessing long non-coding RNA levels in patient tumors could reveal important information about the cancer.

I will provide an overview of the emerging role of long non-coding RNA in cancer and how some long non-coding RNAs have significant potential as novel biomarkers and targets for cancer therapeutics.

 

Patient Vignette

 

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CSCC Symposium: Future tools and knowledge for predictions, trends and decisions
Tuesday June 20, 1330-1630

 

Andrew Lyon, (Chair)

Speakers:

Joseph Rudolf, University of Utah School of Medicine and ARUP Laboratories

Lori Berard, Diabetes Educator, Winnipeg

Natalie Knox, National Microbiology Laboratory, Winnipeg

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Explain the rationale and implications of (1) novel quality control models that predict the frequency of false-positive and false-negative QC results and (2) the risks of underestimating false-negative results in common quality control performance models.
  • Describe (1) the continuous glucose monitoring systems and novel metrics of glycemic control and (2) the updates to the Diabetes Canada clinical practice guidelines that relate to continuous glucose monitoring in practice.
  • Discuss (1) the analytic methods used for wastewater surveillance for infectious disease and (2) the complexity of wastewater surveillance biomarkers and value to public health systems.

The theme of this conference is ‘coming together in the centre’, and this symposium provides background and updates on three emerging topics ‘where data comes together in the center’ to provide attendees with tools and insights to improve their practice of clinical biochemistry.

 

Risk-Based Modeling For Quality Control

Joseph Rudolf, University of Utah School of Medicine and ARUP Laboratories

 

Clinical laboratories conduct billions of tests each year, but each test result is associated with error. These errors contribute to cost and can impact patient care. Laboratories spend considerable resources on quality control activities to minimize these errors but often use outdated one-size fits-all approaches that incur unnecessary costs. In this session, we describe a flexible, risk-based approach that balances false positive (FP) risk and false negative (FN) risk to optimize quality control (QC) policies.

 

Advanced Glucose Monitoring – Changing Diabetes Management

Lori Berard, Diabetes Educator

 

Recent advances in glucose monitoring for people living with diabetes is rapidly changing the way people living with diabetes are managing their glucose control. With improved access to this technology combined with the growing body of evidence, these devices are becoming standard of care primarily for those living with type 1 diabetes but also those with type 2. This session will describe sensor based technology, the glycemic metrics which are guiding care and discuss the Diabetes Canada Clinical Practice Guidelines recently updated to help clinicians integrate this “game changing” technology into practice.

 

Wastewater surveillance as a public health tool for detecting emerging pathogens

Natalie Knox, National Microbiology Laboratory, Winnipeg

 

Learning Objectives:

At the end of this presentation the participants will be able to:

  • Provide a primer on the use of wastewater for surveillance of infectious disease.
  • Describe the state of wastewater surveillance in Canada.
  • Demonstrate the public health value and complexity of wastewater surveillance for infectious disease.

The presentation will provide an overview of wastewater surveillance as a public health tool for detecting emerging pathogens. Topics covered will included: a primer on wastewater surveillance methods for detection of infectious diseases, an overview of the pan-Canadian wastewater surveillance program, and describe the public health value and complexity of performing wastewater surveillance.

 

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Gala Evening – Folklorama Themed Banquet
Tuesday June 20, 1900-2200

 

 

One of the most popular events in Winnipeg is Folklorama, a vibrant festival that celebrates the cultural and ethnic heritage of people from dozens of cultures who have made Winnipeg their home. CCMG & CSCC will welcome a number of the festivals most popular performers to showcase their diverse talents, while enjoying a lovely reception and dinner together. This event will be hosted at the Fairmont Winnipeg, and is not to be missed!

 

Performers include:

Brian Clyne – Hoop Dancer & Drummer

Flying Lion Dance Troupe

Clyde Heeran & Paradise Band

Marco Castillo & Brazillian Beats

The Zoloto Ukrainian Dance Ensemble

 

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CCMG Membership: Genetic Testing Orderables: Debate, Discussion and Dining
Wednesday June 21, 0730-0830

 

Dr. Cheryl Greenberg,

Dr. Tyler Peikes,

 

Genetic Testing Orderables: Debate, Discussion and Dining

 

Given that genetics is relevant to all areas of medicine, whom should order it? Meeting attendees are welcome to join us for breakfast and a lively debate about genetic testing ordering practices. After statements from our debaters, members of the audience will be welcomed to discuss the arguments and pose questions of your own to help us decide a debate winner.

 

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CCMG Symposium: Unique Disease Mechanisms
Wednesday June 21, 0900-1200

 

Kristin Kernohan,

Ryan Yuen,

Mark Tarnopolsky,

Geoff Hicks,

Patient Vignette

 

Care4rare Experience With Multi-omics For The Identification Of Novel Disease Mechanisms

Kristin Kernohan,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Recognize the pros and cons of different multi-omics technologies as they apply to rare disease.
  • Discuss some case examples of novel disease mechanisms identify by new approaches.
  • Understand the most successful use cases for select new omics technologies.

Discussion of Care4Rare experience using different multi-omics technologies for gene discovery and diagnosis.

 

Genome-wide Tandem Repeat Expands Our Understanding Of Complex Disorders

Ryan Yuen,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Identify tandem repeat expansions from short-read genome sequence data.
  • Assess the contribution of tandem repeat expansions in complex disorders.
  • Consider analyzing tandem repeats in other genetic disorders.

Identification of genetic risk factors has provided important information on understanding the functional pathways involved in many of complex disorders. However, the contributing genetic factors identified in many complex disorders so far generally confer less risk than expected from the empirical estimates of their heritability. Tandem DNA repeats make up around 6% of the human genome and have been associated with more than 50 monogenic disorders, but their involvement in complex disorders is largely unknown. I will present our novel approach to detect genome-wide tandem repeat expansions. This approach has led to the identification of rare tandem repeat expansions contributing to autism spectrum disorder and other conditions. It provides a model to search for missing heritability in other complex disorders.

 

Treatment For Mitochondrial Cytopathies

Mark Tarnopolsky,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Identify the biological basis and clinical trial evidence for therapies.
  • Distinguish between different therapies for different mitochondrial disorders.
  • Select appropriate therapies for patients.
  • Demonstrate a knowledge of the rationale behind therapies.

Mitochondrial cytopathies can affect any tissue or system at any age. The clinical manifestations are varied but most involve some aspect of the neurological system. At the cellular level there is evidence for oxidative stress, inflammasome activation, apoptosis and lower cellular energy charge. Exercise and various prevention strategies are helpful. Specific multi-ingredient supplements that target the multiple final common pathways of cellular energy dysfunction can lower biomarkers and confer some level of clinical efficacy. Some small molecule drugs have been studied but to date none are approved as monotherapy.

 

The Genetics and Epigenetics of Fetal Alcohol Spectrum Disorder

Geoff Hicks,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Identify risk factors associated with FASD.
  • Describe how candidate approaches in genetic analysis can identify risk and resilience variants for FASD.
  • Describe how epigenetic analysis of children diagnosed with FASD may identify signatures of FASD outcomes.
  • Discuss the strengths and weaknesses of using genetic and epigenetic biomarkers for early risk assessment of FASD outcomes.

FASD is complex neurodevelopmental disorder with no known molecular etiology. Risk factors of FASD are well established and include prenatal alcohol exposure (PAE), maternal age, socioeconomic status, maternal age, family stress and genetic factors. Taking a candidate gene approach, we have identified genetic variants associated with risk and resilience to FASD outcomes in children diagnosed with FASD. Furthermore, we have evidence that social, biological and environmental risk factors be captured as Social Epigenetic markers of PAE exposure and FASD outcomes. Taken together, such biomarker signatures could be used as a diagnostic tool to assess risk of FASD outcomes in children with known PAE. It is well established that early intervention and access to care can profoundly the change the outcomes for children with FASD and their families.

 

Patient Vignette

 

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CSCC Symposium: Spotlight on the epidemic of non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH)
Wednesday June 21, 0900-1200

 

Speakers:

Nabiha Faisal, Health Sciences Centre, Winnipeg

Ronald Booth, The Ottawa Hospital

Leanne Reeb,

Mang Ma,

 

Learning Objectives:

At the end of the symposium the participants will be able to:

  • Outline the increasing prevalence, risk factors, pathogenesis, diagnosis and management of NAFLD and NASH.
  • Discuss current challenges associated with screening and diagnosis of NAFLD/NASH.
  • Describe ongoing implementation of provincial algorithmic approach for NAFLD/NASH screening in Alberta, Canada.
  • Discuss the role, merits and limitations of non-invasive approaches, including blood biomarkers, calculated scores and imaging.

Non-Alcoholic Fatty Liver Disease (NAFLD) and Non-Alcoholic Steatohepatitis (NASH) are rapidly becoming the most common cause of chronic liver disease worldwide. They represent hepatic manifestation of the metabolic syndrome with estimated prevalence of NAFLD in Canada of 25-40% and NASH 3-4%. Known risk factors for NAFLD and NASH include obesity, dyslipidemia, type 2 diabetes and prediabetes.

NAFLD is the most common chronic liver disease in Canada, the second leading cause of liver transplantation, and expected to be the leading cause within 10 years. NASH is a progressive condition which leads to cirrhosis and associated complications, notably hepatocellular carcinoma (HCC), the second leading cause of cancer-related death in the world. NASH is also associated with increased risk of cardiovascular disease and liver-related mortality.

 

Facing A Silent Liver Disease Epidemic Role Of Biochemistry Tests

Nabiha Faisal, Gastroenterologist and Hepatologist, Health Sciences Centre, Winnipeg

 

The presentation will provide a current burden of NAFLD and review the pathophysiology and natural course. The session will provide an overview how to identify at risk population and will discuss the clinical and lab tests that are currently used in clinical setting to characterize fibrosis.

 

Laboratory Testing in Liver Disease: Basic Liver Panel To Calculated Scores

Ronald Booth, The Ottawa Hospital

 

There is increasing utility and availability of calculated scores for assessment of patients with known or suspected liver fibrosis.
The analytical considerations of individual liver-related biomarkers and calculated liver scores will be covered from a laboratory perspective. Select calculated scores will be compared and implementation considerations presented.

 

Overview of the Implementation of the Fib-4 Score in Alberta

Leanne Reeb, and
Mang Ma,

 

This session will describe Alberta’s experience in implementing the FIB-4 score as a tool to assist with risk stratification for Non-Alcoholic Fatty Liver Disease. Presenters will outline the clinical rationale and health system benefits associated with use of the FIB-4 score, describe their approach to planning and implementation, and outline challenges experienced and future directions planned.