This session is accredited.

This symposium is an instructive session around polygenic risk scores (PGS) and advancements in the management and counselling of polygenic and monogenic disease. Preeminent experts in polygenic risk assessment serve to deepen understanding and knowledge of the ethical and practical application of PGS. In the second part of this session, a leading expert in hemophilia will share insights on ground-breaking advancements in the treatment of inherited bleeding disorders.

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

  • Discuss the derivation of polygenic risk scores for dyslipidemias
  • Understand the challenges of integrating polygenic risk scores into population screening and their impact on communicating the difference between genetic risk factors and a diagnosis
  • Describe advances in genetic testing and the application of gene therapy in the management of inherited bleeding disorders.

Speakers:

Dr. Rob Hegele
Dr. Bartha Knoppers
Dr. David Lillicrap

Polygenic Determinants of Plasma Lipids Speaker: Dr. Rob Hegele

To discuss first-hand experience in the development and clinical application of polygenic scores for hypercholesterolemia and hypertriglyceridemia.

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

  • To review the derivation of polygenic scores for plasma lipids.
  • To compare monogenic versus polygenic dyslipidemias.
  • To recount personal experiences in discussing polygenic risk with patients.

Target Audience: Geneticists, Trainees

CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Leader, Health Advocate, Scholar, Professional

Rob Hegele is a Distinguished Professor of Medicine and Biochemistry at Western University in London, Ontario. He cares for >2500 patients in his lipid clinic. His laboratory developed the world’s first targeted next-generation sequencing panel for familial hypercholesterolemia. He was among the first in the world to use five medications that are now routinely prescribed to treat dyslipidemia or diabetes. He has published >900 papers, and is in the top 1% of highly cited scientists in the world. The website Expertscape.com in 2023 ranked him #1 globally in the area of “hypertriglyceridemia”, #2 for “disorders of lipid metabolism” and #3 for “hypercholesterolemia”. He received the 2019 American Heart Association Lyman Duff Award and the 2020 USA FH Foundation Pioneer Award. He has co-authored many clinical practice guidelines for cholesterol, blood pressure and diabetes. He has trained numerous physicians, medical students and graduate students.

Declaration of Conflict of Interest: Has a relationship with Acasti, Aegerion, Akcea, Amgen, Arrowhead, Boston Heart, HLS Therapeutics, Pfizer, Novartis, Regeneron, Sanofi, Ultragenyx as an Advisory board member and with Amgen, HLS Therapeutics, Novartis, Pfizer, Sanofi for National and local CHE events. Receives Grants and Clinical Trials from Amgen, Arrowhead, The Medicines Company, LIB therapeutics, Novartis, Regeneron.

Polygenic Risk Scores: ELSI Challenges Speaker: Dr. Bartha Knoppers

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

  • Differentiate the ELSI of PRS from diagnostic testing.

Target Audience: Everyone

CanMEDS Roles: Professional

Meet the speaker:

Bartha Maria Knoppers, PhD. Sorbonne (Comparative Medical Law), Full Professor, Canada Research Chair in Law and Medicine and Founding Director of the Centre of Genomics and Policy, McGill University. Chair: Ethics and Governance Committee of the ICGC (2009-2017); Board Member, Global Alliance for Genomics and Health (2013-); Galton Lecturer (2017); Co-Chair, Ethics Working Group of the Human Cell Atlas (2018-). Appointed to the International Commission on the Clinical Use of Human Germline Genome Editing (2020). Officer of the Order of Canada and of Quebec. Awards: four Doctorates Honoris Causa; Fellow of the: Hastings Center (bioethics) (2000); American Association for the Advancement of Science (2002); Canadian Academy of Health Sciences (2005); Royal Society of Canada (2017); Henry G. Friesen International Prize in Health Research (2019); Till and McCulloch Award for science policy (2020); and Lifetime Achievement Award, Canadian Bioethics Society (2021).

Advances In The Genetic Diagnosis And Treatment Of Inherited Bleeding Disorders. Speaker: Dr. David Lillicrap

This presentation will summarize the current status of genetic diagnostic approaches for the commonest inherited bleeding disorders, hemophilia and von Willebrand disease. The talk will also highlight significant advances in the application of gene therapy for hemophilia A and B.

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

  • Identify significant advances in the genetic management of inherited bleeding disorders.
  • Compare the utility of genetic testing for hemiophilia and von Willebrand disease.
  • Contrast the benefits of factor IX versus factor VIII gene therapy.

Target Audience: Geneticists, Trainees

CanMEDS Roles: Medical Expert (the integrating role), Communicator, Scholar, Professional

Meet the speaker:

David Lillicrap is a Professor in the Department of Pathology and Molecular Medicine at Queen’s University, Kingston, Canada. Between 2002 and 2023 he was the recipient of a Senior Canada Research Chair in Molecular Hemostasis, and in 2013, he was elected to the Fellowship of the Royal Society of Canada. Dr. Lillicrap is a past member of the World Federation of Hemophilia’s Medical Advisory Board and is a past Chairman of the International Society on Thrombosis and Haemostasis’ Scientific and Standardization Committee. Between 2008-20014 he served as an Associate Editor of the journal Blood, and recently completed a 5-year term as Co-Editor-in-Chief of the Journal of Thrombosis and Haemostasis. His research interests focus on molecular aspects of the inherited bleeding disorders hemophilia and von Willebrand disease.

Declaration of Conflict of Interest: Has a relationship with Biomarin, CSL Behring, Sanofi, Novo Nordisk as an Advisory board member. Receives Research support from CSL-Behring, Biomarin, Sanofi.

Event Timeslots (2)

Day 2
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Part 1 - Speakers: Dr. Rob Hegele and Dr. Bartha Knoppers - accredited

Day 2
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Part 2 - Speaker: Dr. David Lillicrap - accredited