Program Sponsors

Scientific Program

April 30

 

SUNDAY APRIL 30

 
Time Session Location

0800-1700

Committee Meetings

0800-1000

CCMG Board of Directors

Palais

1000-1200

Policy & By-Laws Committee

Ramezay

 

Accreditation of Training Centres Committee

McGill

 

Laboratory Practice Committee

Beaver Hall

 

Clinical Practice Committee

Ste-Helene

1200-1300

Lunch with Trainees (provided)

Grande Place

1300-1500

Scientific Program Committee

McGill

 

Training Committee

Beaver Hall

1500-1700

NGS Laboratory Working Group

McGill

 

Credentials Committee

Ramezay

 

Education, Ethics & Public Policy Committee

Beaver Hall

 

Awards & Nominations Committee

Ste-Helene

1000-1630

Fellow Education Day

1000-1045

Exam Skills

Speakers:

Aspasia Karalis, Service de génétique médicale, CHU Sainte-Justine, Montréal QC

Ryan Lamont, Molecular Diagnostics Laboratory, Alberta Children's Hospital, Calgary AB

Julie Richer, Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa ON

1045-1100

Refreshment Break

1100-1150

Quality Assurance of Lab Developed Tests

Speaker:

Tracey Stockley, Clinical Laboratory Genetics, Laboratory Medicine Program, University Health Network, Toronto ON

1200-1300

Lunch with Trainees (provided)

1315-1400

Career Paths

Speaker:

Bridget Fernandez, St John's Health Sciences Centre, St. John’s NL

1400-1500

How to write your CV and cover letter

Speakers:

Julie Richer, Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa ON

Karen Niederhoffer, Department of Medical Genetics, University of Alberta, Edmonton AB

Aspasia Karalis, Service de génétique médicale, CHU Sainte-Justine, Montréal QC

Jim Stavropoulos, Hospital for Sick Children, Toronto ON

Anne Marie Laberge, CHU Sainte-Justine, Montréal QC

1500-1515

Refreshment Break

1515-1615

How to write a manuscript and select a journal

Speaker:

Philippe Campeau, Department of Pediatrics, Université de Montréal, Sainte-Justine Hospital, Montréal QC

Viger

1200-1300

Lunch with Trainees (provided)

1700-1850

Keynote Address & Award Presentation

Montreal AB

 

1700-1710

Welcome Remarks - President Judy Chernos

1710-1815

Keynote Presentation

1710-1715

Introduction of Keynote Speaker by Gail Graham, Children´s Hospital of Eastern Ontario, Ottawa ON

1715-1800

Title: Bill S201- The Journey towards genetic fairness in Canada

Speaker: Bev Heim-Myers - CEO Huntington Society of Canada & Chair Canadian Coalition for Genetic Fairness

Objectives: At the end of the session, the participants will be able to:

  • Understand the history of protecting genetic information in Canada and Bill S201
  • Understand the legislative process, the stakeholders that helped make it happen and how Bill S201 works to protect genetic test information in Canada
 1800-1815 Questions and Discussion
 1815-1850

The F. Clarke Fraser Award for Excellence in Mentorship and Teaching Presentation

1815-1825

Remembrances of F. Clarke Fraser - Dr. Marilyn Preus

1825-1840 Introduction of Dr. Charles Scriver - inaugural recipient of the F. Clarke Fraser Award - Dr. Janet Buchanan
1840-1850 Presentation of Award and acceptance speech Dr. Charles Scriver, DeBell Lab for Biochemical Genetics, Children´s Hospital Res Institute, Montréal QC
1900

Welcome Reception

Understanding the history of protecting genetic information in Canada and Bill S201 – S/B S20

Grande Place

 

May 1

 

MONDAY MAY 1

 

Tme Session Location
0700-0800 Delegate Breakfast Montreal Foyer

Industry Breakfast Seminar - Hosted by GeneDX

Title: Exome Sequencing in a Clinical Laboratory

Speaker: Jane Juusola, Ph.D., FACMG, Director, GeneDx Clinical Genomics Program

Objectives:

At the end of the session, the participants will be able to:

  • Summarize the approach taken to analyze and interpret clinical exome data
  • Describe the evolution of genes from candidate to disease-causing
  • Identify why reanalyzing exome data is important
Montreal C
0700-0800

Industry Breakfast Seminar - Women's College Hospital

Title: The Screen Project: A Population Based BRCA Genetic Testing Program in Canada

Speakers: Dr. Steven Narod, Scientist, Women's College Research Institute, University of Toronto

Dr. Mohammad R. Akbari, Women's College Research Institute, University of Toronto

Nicole Gojska, Genetic Counsellor, Women's College Research Institute, University of Toronto

Objectives:

At the end of the session, the participants will be able to:

  • Introduce the project and its goals,
    Discuss the benefits and harms of the population based genetic testing for BRCA genes,
  • Introduce the idea of guided direct-to-consumer,
  • Discuss the steps needed to be taken for participating in the project and ordering the test,
  • Explain about the technical specifications of the test
Montreal D

0800-1140

Symposium 1

CNV and New Pathogenic Models in Neurodevelopmental Disorders

Chair: Frederique Tihy, Service de Génétique Médicale, CHU Ste-Justine, Montréal QC

Montreal AB

 

 

0800-0815

Opening Remarks

0815-0850

Pathogenic CNVs, the adult phenotype, and counselling about long term outcome
Speaker: Anne Bassett, Department of Psychiatry, University of Toronto, Toronto ON

Objectives: At the end of the session, the participants will be able to:

  • Appreciate the important role of counselling about the adult phenotype of pathogenic copy number variations for individuals at different life stages
  • List three treatable conditions usually arising in adulthood associated with at least two different pathogenic CNVs
  • Describe potential benefits of genetic diagnosis for patients with schizophrenia, their families, and their clinicians

0850-0900

Q & A Session

0900-0935

The joy and pain of genetic counselling for recurrent CNVs implicated in neurodevelopmental disorders
Speaker: Melissa Carter, Children’s Hospital of Eastern Ontario, Ottawa ON

Objectives: At the end of the session, the participants will be able to:

  • Discuss the differences between a "syndrome" and a "susceptibility variant" with respect to recurrent CNVs
  • Understand one's own biases, and those in the case report literature, regarding these CNVs
  • Identify the gaps in the current evidence base for the pathogenic nature of these CNVs
  • Share ideas about how to counsel our patients in the absence of certainty

0935-0945

Q & A Session

0945-1015

Refreshment Break

1015-1050

Gene Dosage effects on cognition and additive/oligogenic models in the neurodevelopmental clinic
Speakers: Sebastien Jacquemont, Hôpital Ste-Justine, Montréal QC
Melissa Carter, Children’s Hospital of Eastern Ontario, Ottawa ON

Objectives: At the end of the session, the participants will be able to:

  • Understand the heritability of cognitive and behavioral traits
  • Understand the quantitative effects of genomic variants on cognitive and behavioral traits
  • Use available data to understand the contribution of genomic variants to the symptoms present in patients referred for a neurodevelopmental disorder.
  • Understand the implication of these studies on genetic counselling

1050-1100

 Q & A Session

1100-1135

Copy Number Variants in Neurodevelopmental Disorders
Speaker: Christian Marshall, Hospital for Sick Children, Toronto ON

At the end of the session, the participants will be able to:

  • Differentiate between recurrent and non-recurrent copy number variants and identify the mechanisms that lead to their formation.
  • Describe the strategies used for interpretation of copy number variants including the criteria used to establish clinical significance.
  • Identify the most common CNVs associated with neurodevelopmental disorders.

Montreal AB

 

1135-1145

Q & A Session

1145-1345

Award Presentation and Lunch followed by the CCMG Annual General Meeting

Hamerton Award Presentation - Janet Buchanan
Founders' Award Presentation - Cheryl Greenberg-Rockman

Open to all attendees.

Montreal AB

1345-1715

Symposium 2

WES and Metabolic and Mitochondrial Diseases

Chair: David Chitayat, Professor, Department of Pediatrics, Obstetrics & Gynaecology, Laboratory Medicine & Pathobiology & Molecular Genetics, University of Toronto, Toronto, ON

Montreal AB

 

1345-1420

Molecular Diagnostics in the Integrated Approach to Mitochondrial Disease

Speakers: Grant Mitchell, Service de génétique médicale, Hôpital Ste-Justine, Montréal QC
Jean-Francois Soucy, CHU Sainte-Justine, Hôpital Ste-Justine, Montréal QC
Julie Gauthier, CHU Sainte-Justine, Hôpital Ste-Justine, Montréal QC

Objectives: At the end of the session, the participants will be able to:

  • Explain the differences in molecular diagnostics of diseases due to mitochondrial DNA mutations and those due to nuclear DNA mutations. Summarize the criteria for assigning the pathogenicity of nuclear mutations in mitochondrial disease.
  • Explain the importance of tissue heteroplasmy in determining the phenotype of diseases of mitochondrial DNA.
  • Discuss the use of molecular diagnosis with respect to clinical and biochemical evaluations of the patient and of patient samples.

1420-1430

Q & A Session

1430-1505

Neurodegeneration when iron is the culprit

Speaker: Patrick MacLeod, Medical Genetics, Department Office, University of British Columbia

Objectives: At the end of the session, the participants will be able to:

  • Summarize the biology of iron metabolism
  • Discuss the role of iron in the brain
  • Discuss the various forms of neurodegeneration with brain iron accumulation
  • List the genes involved in NBIA

1505-1515

Q & A Session

1515-1545

Refreshment Break

Montreal Foyer

1545-1620

Peroxisome biogenesis disorders and related single enzyme defects: clinical updates and pre-clinical approaches to targeted therapies.

Speaker: Nancy Braverman, McGill University, Montréal QC

At the end of the session, the participants will be able to:

  • Integrate newly described peroxisome disorders
  • Formulate a diagnostic model for the different peroxisome disorders
  • Describe new contributions to peroxisome biology
    Appraise preclinical approaches to therapy

Montreal AB

 

1620-1630

Q & A Session

1630-1710

Mitochondrial Diseases: Whole exome sequencing and beyond
Speaker: Eric Shoubridge, McGill University, Montréal QC

At the end of the session, the participants will be able to:

  • Maximize success of finding genetic defects by WES
  • Validate variants of unknown significance
  • Use modern tools for interrogating mitochondrial interactomes

Montreal AB

 

1710-1715

 Q & A Session

1715-1815

Non-Trainees Poster Viewing – Presenters should be at their posters for Q&A

 

Grande Place

1715-1930

Wine & Cheese Reception in Exhibit Hall

Grande Place

 

May 2

 

TUESDAY MAY 2

 

Time Session Location

0700-0800

Light Breakfast with the Exhibitors

Grande Place

0700-0800

Industry Breakfast Seminar - AstraZeneca

Title: Clinical implications of tumour-based BRCA1/2 mutation testing: Lessons from a Pilot program

Tracy Stockley, PhD, FCCMG, FACMG

Associate Director, Genome Diagnostics, Department of Clinical Laboratory Genetics, Laboratory Medicine Program, University Health Network, Toronto ON

Raymond Kim, MD, PhD, FRCPC, FCCMG, FACMG

Medical Geneticist, Assistant Professor, Department of Medicine, University of Toronto, Toronto ON

Objectives:

Tumour-based BRCA1/2 mutation testing: The UHN Genome Diagnostics Experience

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

  • Provide an overview of germline versus tumour-based (germline and somatic) BRCA1/2 mutation testing; differences and caveats for somatic testing
  • Relay the benefits of BRCA1/2 mutation tumour-based testing
  • Outline UHN’s experience of implementing BRCA1/2 tumour testing, including discussion of sample preparation, testing methodologies and somatic variant interpretation

Clinical integration of somatic and germline BRCA1/2 mutation testing: In future, how do they co-exist?

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

  • Understand how the molecular basis of ovarian cancer, both germline and somatic mutations, may inform clinical treatment decisions
  • Discuss potential clinical implementation models of somatic BRCA1/2 mutation testing, including test ordering and post-test counselling needs
  • Relay challenges and opportunities to integrating tumour-based testing into current germline testing workflows
  • Understand the role of the multidisciplinary team in enabling tumour-based BRCA1/2 mutation testing

Montreal C

0700-0800

Industry Breakfast Seminar - PreventionGenetics

Title - Finding Answers: Comprehensive Fetal and Neonatal Loss Panel
Speaker: Diane Allingham-Hawkins, Ph.D, FCCMG, FACMG

Objectives:

At the end of the session, the participants will be able to:

  • By the end of this seminar, participants should be able to:
  • Discuss the incidence and major causes of miscarriage, stillbirth, and neonatal death. 
  • Describe the major genetic contributors to miscarriage, stillbirth, and neonatal death.
  • Explain the benefits and limitations of genetic testing in cases of miscarriage, stillbirth, and neonatal death.

 

Montreal D

0800-1200

Symposium 3 - Population Genetics / Founder Effects

Chair: Micheil Innes, Department of Medical Genetics, Alberta Children’s Hospital, Calgary AB

Montreal AB

 

 

 

0800-0815

Opening Remarks

0815-0850

The Importance of Peace of Mind: Lessons Learned from the Evaluation of a Community-based Carrier Screening Program in First Nations Communities

Speaker: Anne Marie Laberge, CHU Sainte-Justine, Montréal QC

Objectives: At the end of the session, the participants will be able to:

  • Describe the carrier screening program for Cree encephalitis and Cree leukoencephalopathy in the Cree communities of James Bay
  • Discuss the importance of adapting a program to the target population's needs and values
  • Use the lessons learned in this setting to their own practice when counseling individuals and couples about carrier screening for recessive conditions

0850-0900

Q & A Session

0900-0935

Title: The Great Migration and African-American genomic diversity

Speakers: Simon Gravel, McGill University. Montréal QC
Soheil Baharian, McGill University, Montréal QC

Objectives: At the end of the session, the participants will be able to:

  • Describe how recent history affected genomic diversity
  • Build models of genetic admixture
  • Build models of genetic relatedness

0935-0945

Q & A Session

0945-1015

Refreshment Break - Grande Place

Trainee Poster Viewing Session for Posters (Odd Numbers)

1015-1050

High tech in a low tech world: The provision of culturally sensitive genetics healthcare to the Amish and Mennonite population in southwestern Ontario

Speaker: Victoria Siu, Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London ON

Objectives: At the end of the session, the participants will be able to:

  • Discuss the importance of cultural competency in working with Anabaptist groups
  • Summarize resources available for diagnosis and management of genetic disorders in this population
  • Discuss the outcomes of a targeted newborn and carrier screening program

1050-1100

Q & A Session

1100-1135

From Gene Discovery to Provision of Genomic Medicine in the Hutterite Population

Cheryl Rockman-Greenberg, Pediatrics and Child Health, Children's Hospital Health Science Centre, Winnipeg MB
Beth Spriggs, Dept. of Clinical Biochemistry and Genetics, Diagnostic Services Manitoba, Health Sciences Centre, Winnipeg MB

Objectives: At the end of the session, the participants will be able to:

  • Name at least 3 autosomal recessive diseases unique to Hutterites where the mutations are known.
  • Define what the “Hutterite Chip” is and its main role in diagnostics.
  • Describe the molecular technology behind the “Hutterite Chip”.
  • Assess the pros and cons of implementing a “Hutterite Chip” into medical practice.
  • Discuss the ethical concerns.

1135-1145

Q & A Session

1145-1220

The Power of Genome-Wide DNA Methylation: A Functional Tool for Classifying Mutations

Speaker: Rosanna Weksberg, Department of Genetics, Hospital for Sick Children, Toronto ON

Objectives: At the end of the session, the participants will be able to:

  • Describe epigenetic marks and their role in normal development and in the pathophysiology of genetic disorders
  • Identify a range of human syndromes caused by mutations in epigenetic regulators or epigenes
  • Describe how functional epigenetic studies could be used to classify variants of unknown significance

Montreal AB

 

1220-1230

Q & A Session

1230-1400

PEACE Train Committee

 Palais

1230-1430 Lunch with Exhibitors Grande Place

1430-1545

CCMG Trainees Platform Presentations - Selected abstracts

Chair: David Chitayat, The Hospital for Sick Children, Mt. Sinai Hospital, Toronto ON

Montreal AB

1430-1440

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing - Jean-Baptiste Rivière

 

1440-1445

Q & A Session

 

1445-1455

Delineating the impact of rare copy number variation on IQ in schizophrenia - Chelsea Lowther

 

1455-1500

Q & A Session

 

1500-1510

Exome Reanalysis: Integration of New Knowledge in Genomic Reports - Val Lapin

 

1510-1515

Q & A Session

 

1515-1525

Investigation of simplex patients born to consanguineous parents: Whole exome sequencing has a high yield, with significant contribution of de novo mutations - Alison Eaton

 

1525-1530

Q & A Session

 

1530-1540

Homozygous mutation in RSPRY1 in a patient of Canadian indigenous descent results in skeletal dysplasia and intellectual disability: Expanding the phenotype of SEMD Faden-Alkuraya type - Inara Chacon

 

1540-1545

Q & A Session

 

1545-1615

Refreshment Break with the Exhibitors

Trainee Poster Viewing Session for Posters (Even Numbers)

Grande Place

BREAKOUT SESSION 1

1615-1730

Clinical/Biochemical  Breakout

Moderators: Oana Caluseriu, Department of Medical Genetics, University of Alberta, Edmonton AB
Murray Potter, Laboratory Medicine, McMaster Children’s Hospital, Hamilton ON

Objectives:

At the end of the session, the participants will be able to:

  • Recognize rare clinical disorders of difficult diagnosis
  • Evaluate the utility of new diagnostic techniques in the assessment of patients with rare disorders including whole exome and whole genome sequencing.
  • Review the value of a complete phenotypic assessment and integration of genotype and phenotype data.
  • Review strategies for follow-up of abnormal biochemical investigations.

Montreal C

 

1730-1745

Q & A Session

BREAKOUT SESSION 2

1615-1730

Molecular/Cyto Breakout

Moderators: Hanxin Lin, London ON

Dennis Bulman, Research Institute & Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa ON

Objectives:

At the end of the session, the participants will be able to:

  • Describe potential issues with current diagnostic technologies.
  • Distinguish unique biological differences which may affect testing results or interpretations.
  • Describe different approaches for troubleshooting unexplained test results.
  • Describe approaches to combine molecular and cytogenetic interpretations to genetic disease.

Montreal D

 

1730-1745

Q & A Sessions

1830-2330

The Gala (formerly the Founders Dinner) - Verses Restaurant - 100 Rue Saint Paul O, Montreal QC H2Y 1Z3

Verses Restaurant

 

May 3

 

WEDNESDAY MAY 3

 

Time Session Location

0700-0800

Light Breakfast with the Exhibitors

Grande Place

0700-0800

Industry Breakfast Seminars - Blueprint Genetics

Title: Defining transparency in a genetic testing lab

Speaker: Dr. Tero-Pekka Alastalo, MD, PhD

Objectives:

At the end of the session, the participants will be able to:

  • Gain an understanding of the limitations in current genetic testing technologies
  • Define and understand what transparency from a lab means
  • Discuss the results of the analytic validation of the Blueprint Genetics diagnostics pipeline and the diagnostic yield encountered so far

Montreal C

0800-1200

Symposium 4

Humanities in Genetics

Chair: Margaret Joanna Nowaczyk, Division of Genetics, McMaster University Medical Centre, Hamilton ON

Montreal AB

 

0800-0815 Opening Remarks

0815-0855

Title: Frameshifts: Narrative Medicine in Clinical Genetics.

Speaker: Margaret Nowaczyk, Division of Genetics, McMaster University Medical Centre, Hamilton ON

Objectives:

At the end of the session, the participants will be able to:

  • Understand the principles of narrative healthcare.
  • Explore close reading and reflective writing as a tool for strengthening empathy.
  • Explore self-reflection by means of narrative.

0855-0935

Seeing Ourselves and Others: Developing Empathic Future Medical Leaders through Visual Art.

Speaker: Joyce Zazulak, McMaster University, Hamilton ON

Objectives: At the end of the session, the participants will be able to:

  • Understand of the role of the arts in medical education
  • Demonstrate the role of the arts in development of empathetic and compassion healthcare providers
  • Explore the role that art may have in the development of the reflective practioner

0935-1015

Refreshment Break with Exhibitors

1015-1045

 

Policy relevant truth telling for ethics governance of the data intensive sciences: a tale of two(?) narratives

Speaker: Vassiliki Rahimzadeh, University of Toronto, Toronto ON

Objectives: At the end of the session, the participants will be able to:

  • Appreciate the policy relevant knowledge generated by narrative policy analysis
  • Explore the complementary, competing and overlapping narratives in the ethics of governing data sharing in the data-intensive sciences such as genomics
  • Apply a narrative policy lens to unveil the priorities, politics and problems of contemporary science governance

1045-1125

 

Integrating the medical humanities into competency-based training programs in medical genetics: opportunities and challenges

Speaker: Aspasia Karalis, Service de génétique médicale, CHU Sainte-Justine, Montréal QC

Objectives: At the end of the session, the participants will be able to:

  • Summarize the key characteristics of competency-based medical education;
  • Identify potential benefits of integrating the humanities as means of teaching and evaluating the development and acquisition of competencies in professionalism, communication, patient advocacy and leadership;
  • Evaluate the opportunities and challenges for integrating the medical humanities into a competency-based, medical genetics curriculum at their respective academic centres.

1125-1145

Q & A Session

1145-1200

Closing Remarks - Judy Chernos, Associate Professor, Department of Medical Genetics, University of Calgary/ Site Head, Genetic Laboratory Services - Alberta Health Services.

WORKSHOP

1200-1215

Pick up Box Lunch

Montreal Foyer

1215-1415

Session 1: Practicing Genetics in the Era of Social Media: An Interactive Workshop

Moderator: Margaret Joanna Nowaczyk, Division of Genetics, McMaster University Medical Centre, Hamilton ON

Speakers: Julie Lauzon, Department of Medical Genetics, Alberta Children’s Hospital, Calgary AB; Oana Caluseriu, Department of Medical Genetics, University of Alberta, Edmonton AB; Tyler Peikes, Winnipeg MB

Objectives: At the end of the session, the participants will be able to:

  • Discuss the types of social medial useful and used in medical practice
  • Be aware of patients’ perceptions and uses of social media
  • Be aware of the ethical implications of using social medial in patient communication, research, education and medical practice
  • Consider establishing and participating in a working group to develop a CCMG policy on the use of social media in the practice of clinical genetics

Montreal C

 

1415-1430

Q & A Session

 1300-1500  Metabolics Committee  Palais