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Conference Program

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Back to Basics: The Physical Exam is the Cornerstone of Precision Medicine

13 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 801 AB
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical-Adult & Pediatric
  • Level of Learner:
    • Basic
“Back to Basics: The Physical Exam is the Cornerstone of Precision Medicine” aims to improve the accuracy, terminology, and precision of a genetics-focused physical exam for commonly encountered indications that have a wide differential. We will provide physical exam “pearls” by experts and emphasize up-to-date nomenclature and ways in which a descriptive physical exam can shape medical decision-making through clinical diagnosis, genetic test selection, and post-testing variant interpretation.
We have gathered an expert group of geneticists in four fields: craniofacial/skull malformations, ocular, external ears, and the hair and nails.
 Each speaker will discuss their approach to the focused physical exam, phenotyping, documenting and recording key elements, and communicating exam findings precisely in publications and presentations. We will emphasize medically accurate, descriptive nomenclature that uses patient-centered language.

This session will empower clinicians to organize and strengthen their physical exam, building confidence for future patient encounters. This is also relevant to genetic counselors who may assist in clinic and help make testing plans based on descriptive terms and to laboratory geneticists who use phenotypic information on requisition forms when helping interpret variants.

Learning Objectives

  1. Implement an algorithm for the assessment of abnormal head shape in children with suspected genetic condition
  2. Recognize structural eye differences visible on a general exam to generate a genetic differential diagnosis
  3. Formulate a practical approach to the evaluation of patients with external ear malformations
  4. Evaluate recognizable patterns of hair and nail disorders that indicate a pathway for further evaluation