Back to Basics: The Physical Exam is the Cornerstone of Precision Medicine
18 Mar 2025
Clinical Genetics and Therapeutics
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Accredited:
- Accredited
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Primary Categories:
- Clinical- Pediatric
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Secondary Categories:
- Clinical- Pediatric
“Back to Basics: The Physical Exam is the Cornerstone of Precision Medicine" will explore approaches to the physical exam of four different body components and help attendees describe findings and build a genetic differential diagnosis.
This session 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: nose/philtrum, trunk/limbs, hands, and pigmented lesions.
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. A goal is to help attendees recognize and apply physical exam findings to the genetic differential and guide appropriate test selection and variant interpretation and clinical correlation.
This session content will be aimed at a level appropriate for those who have not had formal dysmorphology training in their genetics education, but it also will help enhance the skills of those performing physical exams on a daily basis.
This session 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: nose/philtrum, trunk/limbs, hands, and pigmented lesions.
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. A goal is to help attendees recognize and apply physical exam findings to the genetic differential and guide appropriate test selection and variant interpretation and clinical correlation.
This session content will be aimed at a level appropriate for those who have not had formal dysmorphology training in their genetics education, but it also will help enhance the skills of those performing physical exams on a daily basis.
Learning Objectives
- Formulate a differential diagnosis based on dysmorphic findings of the nose and philtrum
- Assess differences in the trunk and limbs that aid in the diagnosis of skeletal dysplasias and other genetic conditions
- Examine digital morphology to recognize the pathologic signs of syndromes
- Classify genetic conditions presenting with caf-au-lait macules beyond neurofibromatosis
Agenda
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Welcome and Introduction1:30 PM – 1:35 PM -
Nose and Philtrum Morphology: Sniffing Out Syndromes1:35 PM – 1:55 PM -
Physical Examination of the Trunk and Limbs: Clues to Diagnosis1:55 PM – 2:15 PM -
Pigmentary Lesions in the Evaluation of Genetic Diagnoses2:15 PM – 2:35 PM
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Grasping Differences: A Methodical Approach to Hand Dysmorphology Examination2:35 PM – 2:55 PM -
Panel DiscussionPanel Discussion and Q&A2:55 PM – 3:30 PM
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