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Workshop PM [clear filter]
Tuesday, February 28
 

12:45

Afternoon Session Registration and Coffee
Moderators
avatar for Emma Bedoukian, MS, LCGC

Emma Bedoukian, MS, LCGC

Workshop Facilitator, Genetic Counselor, Children's Hospital of Philadelphia
Emma Bedoukian completed her MS in Genetic Counselling at Mount Sinai School of Medicine in New York and her BScH in Biology and Psychology at Queen's University. She completed a fellowship focused on Lysosomal Storage Disease at the Children's Hospital of Philadelphia from 2013... Read More →

Tuesday February 28, 2017 12:45 - 13:00
CRL 3rd Floor Lobby

13:00

Welcome and Introductions
Speakers
avatar for Adel D. Gilbert, MS, CGC

Adel D. Gilbert, MS, CGC

Workshop Course Director, Education Advisor, Centre for Genetic Medicine, SickKids
Adel Gilbert, Course Director/Coordinator for the Workship in Applied Genomic Medicine. After graduating from McGill University with a Masters in Genetic Counseling and a Masters in Clinical Genetics, she worked as a prenatal genetic counselor for many years in the United States... Read More →


Tuesday February 28, 2017 13:00 - 13:05
CRL Event Room 3a/3b PGCRL Bay Street Toronto

13:05

Clinical Genomic Testing From A (Array) to G (Genome Wide Sequencing)
This talk will highlight current state of genetic testing technologies and strategies that are available today to the practicing clinician

Three key elements will be explained:

  1. Current technologies used for genetic testing in diagnostics 
  2. Approaches to genetic testing including genome wide and targeted testing strategies 
  3. Advantages and limitations of genome wide sequencing

Speakers
avatar for Christian Marshall, PhD

Christian Marshall, PhD

Associate Director, Pediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto
Dr. Christian Marshall, completed his undergraduate and graduate training at Simon Fraser University in Vancouver, Canada. Following completion of his Ph.D. in 2005, he undertook a postdoctoral fellowship at The Hospital for Sick Children in Toronto, Canada. His post-doctoral res... Read More →


Tuesday February 28, 2017 13:05 - 13:45
CRL Event Room 3a/3b PGCRL Bay Street Toronto

13:45

Clinical Genomic Testing - Question Period
Moderators
avatar for Sarah Bowdin, MD

Sarah Bowdin, MD

Workshop Course Director, Interim Director, Centre for Genetic Medicine, Assoc. Professor Paediatrics, SickKids
Dr. Sarah Bowdin, Workshop Course Director, graduated from the University of Southampton Medical School England.  She completed her training in general paediatrics and neonatology in London, England and Edinburgh, Scotland, obtaining membership of the Royal College of Paediatrics and Child Health in 2001. She then trained in Clinical Genetics in the West Midlands Regional Genetics unit, England... Read More →

Speakers
avatar for Christian Marshall, PhD

Christian Marshall, PhD

Associate Director, Pediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto
Dr. Christian Marshall, completed his undergraduate and graduate training at Simon Fraser University in Vancouver, Canada. Following completion of his Ph.D. in 2005, he undertook a postdoctoral fellowship at The Hospital for Sick Children in Toronto, Canada. His post-doctoral res... Read More →


Tuesday February 28, 2017 13:45 - 14:00
CRL Event Room 3a/3b PGCRL Bay Street Toronto

14:00

Clinical Genomic Case Study -Case Background/Choosing the Patient/Phenotyping
This talk will focus on how to choose the patients that will benefit from genomic sequencing and which tools to use in order to phenotype the whole patient accurately.

  1. Which patient characteristics suggest that WES will have clinical utility
  2. How to collect an accurate and detailed phenotype

Speakers
avatar for Sarah Bowdin, MD

Sarah Bowdin, MD

Workshop Course Director, Interim Director, Centre for Genetic Medicine, Assoc. Professor Paediatrics, SickKids
Dr. Sarah Bowdin, Workshop Course Director, graduated from the University of Southampton Medical School England.  She completed her training in general paediatrics and neonatology in London, England and Edinburgh, Scotland, obtaining membership of the Royal College of Paediatrics and Child Health in 2001. She then trained in Clinical Genetics in the West Midlands Regional Genetics unit, England... Read More →


Tuesday February 28, 2017 14:00 - 14:30
CRL Event Room 3a/3b PGCRL Bay Street Toronto

14:30

Pre-Test Consult - Clinical Genomic Case Study
Learn the core elements of counselling for exome/genome sequencing tests and hear from a genome genetic counselor some practical tips for this process.

The key elements of this presentation will be:

  1. What health care providers (HCPs) need to know about exome/ genome sequencing to facilitate informed consent      
  2. Practical tips for counselling families about exome/genome sequencing tests      
  3. Where to find resources that will facilitate the process

Speakers
avatar for Nasim Monfared, MS, CGC

Nasim Monfared, MS, CGC

Certified Genetic Counsellor, The Hospital for Sick Children, Toronto
Nasim Monfared is the coordinator and genetic counsellor for the Genome Clinic at the Centre for Genetic Medicine at SickKids. Nasim recruits and counsels patients undergoing exome and genome sequencing (ES), interprets and reports variants generated through these tests and couns... Read More →


Tuesday February 28, 2017 14:30 - 14:45
CRL Event Room 3a/3b PGCRL Bay Street Toronto

14:45

Testing Options - Clinical Genomic Case Study
This talk will highlight the process and key considerations the pediatric subspecialist must take into consideration when ordering clinical exome sequencing. 

Three key elements will be explained:

1. Logistics including DNA Resource Centre and Ministry of Health package
2. Practical considerations of whole exome sequencing (WES) offered by different clinical service labs; such as type of testing performed, turn around time, requirements, etc.
3. Reporting policies of WES testing offered by clinical service labs  

Speakers
avatar for Seema Jamal, MSc, CGC, CCGC

Seema Jamal, MSc, CGC, CCGC

Certified Genetic Counsellor, The Hospital for Sick Children, Toronto
Seema is a Genetic Counsellor in both the Genome Diagnostics Laboratory and the department of Clinical and Metabolic Genetics at the Hospital for Sick Children. Seema obtained her Master of Genetic Counselling degree at the University of Toronto. Soon after graduation, Seema move... Read More →


Tuesday February 28, 2017 14:45 - 15:00
CRL Event Room 3a/3b PGCRL Bay Street Toronto

15:00

Result Interpretation - Clinical Genomic Case Study

This talk will highlight elements of interpretation and reporting of genomic results and discuss the importance of phenotypic information in interpreting WES.

Three key elements of this topic will be discussed: 

  1. Integration of phenotype and genotype
  2. Filtering of variants
  3. Classification of variants

Speakers
avatar for Lianna Kyriakopoulou, PhD

Lianna Kyriakopoulou, PhD

Director, Division of Genome Diagnostics, PLM, The Hospital for Sick Children, Toronto
Dr. Lianna Kyriakopoulou is a director of Genome Diagnostics at the Hospital for Sick Children. She received her PhD in Microbiology and Molecular and Medical Genetics from the University of Toronto. She is certified by the Canadian Academy of Clinical Biochemistry and the Americ... Read More →


Tuesday February 28, 2017 15:00 - 15:15
CRL Event Room 3a/3b PGCRL Bay Street Toronto

15:15

Post Test Consult - Clinical Genomic Case Study
This talk will cover interpretation and disclosure of both primary and secondary results. 

Key elements that will be discussed are: 
  1. Interpreting the exome report – a molecular differential diagnosis or definitive diagnosis?
  2. Likelihood and implications of finding a clinically actionable secondary finding in the paediatric population
  3. Steps available for negative results from a clinical whole exome test

Speakers
avatar for Stephen Meyn, MD, PhD

Stephen Meyn, MD, PhD

Professor Molecular Genetics, Paediatrics, The Hospital for Sick Children and University of Toronto
Dr. Stephen Meyn received his MD and PhD degrees from New York University, then completed an internship and residency in paediatrics at the University of California, San Francisco. He subsequently trained in medical genetics and molecular genetics at the National Institutes of Health (USA) before joining the faculty of the Yale School of Medicine. In 1998 Dr. Meyn was recruited to SickKids and the University of Toronto.Dr. Meyn is a clinician-scientist and staff geneticist in the Division of Clinical and Metabolic Genetics at SickKids as well as a Senior Scientist and past Head of... Read More →


Tuesday February 28, 2017 15:15 - 15:30
CRL Event Room 3a/3b PGCRL Bay Street Toronto

15:30

END
Tuesday February 28, 2017 15:30 - 15:31
CRL Event Room 3a/3b PGCRL Bay Street Toronto