Description:

Artificial intelligence (AI) has become ubiquitous in today’s society and has permeated the field of clinical genetics and genomics. The development and adoption of machine learning in research and clinical diagnostic laboratories has become crucial to workflows and continues to require innovation to allow quality service, at scale, for patients and clinicians. Additionally, as the volume of patients referred to clinical genetic services continues to grow along with waitlists, the use of large language models (LLMs) and other AI tools is being explored and implemented as part of alternative service delivery models. While we adopt AI applications into clinical care, we must consider ethical, legal and regulatory aspects of their integration. This session will highlight how AI can be leveraged in research, clinical diagnostic, and patient care settings to augment our human ability with the goal to ultimately benefit our patients and our profession, while at the same time examining how we can achieve this responsibly.

Objectives

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

  • Define artificial intelligence (AI) and relevant subsets including machine learning and natural language processing.
  • Illustrate research to clinical implementation pathway for AI technology using DNA methylation episignature biomarkers for rare disorders.
  • Summarize how AI has permeated into clinical genomic sequencing to improve diagnostic workflows.
  • Examine the evolution of AI applications in clinical workflows enabling advanced patient care in the medical genetics clinic.
  • Summarize current ethical and regulatory concerns related to the use of AI in clinical genomics.

Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees, Molecular Pathologists, Medical Lab Technologists
CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Leader, Health Advocate, Scholar, Professional

Speaker: 
Dr. Maria J. Guillen Sacoto, MD, FACMG, Director, Clinical Genetics, GeneDx, LLC
Dr. Bekim Sadikovic, PhD, DABMG, FACMG, Division Head, Molecular Diagnostics, Pathology and Laboratory, London Health Sciences Centre, Professor, Department of Pathology and Laboratory Medicine and Department of Pediatrics, Western University
Justin Lorentz, MSc, CGC, Male Oncology Research Education Program Lead, Sunnybrook Health Sciences Centre, Interim Team Lead, Genetics, Medcan
Maelenn Corfmat
Melanie Napier, Senior Translational Science Liaison, Medical Affairs, GeneDx, LLC

Event Timeslots (1)

Plenary
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KC 101-103-105 - Melanie Napier, Dr. Maria J. Guillen Sacoto, Dr. Bekim Sadikovic, Justin Lorentz, Maelenn Corfmat