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

Video Transcription

Video Summary

The broadcast session focused on insights into the physical examination as a cornerstone of precision medicine, with a focus on genetic interpretation. It included discussions led by a panel of renowned geneticists on various aspects of physical exams, highlighting their significance in formulating genetic differential diagnoses.<br /><br />Dr. Anna Hurst presented on nose and philtrum morphology, emphasizing the importance of accurate descriptions of nasal features using standardized terminology from the Elements of Morphology. Hurst presented clinical examples, encouraging active participation to describe nasal features and identify possible syndromes.<br /><br />Dr. Margaret Adam spoke about trunk and limb evaluations, focusing on proportions and asymmetries relevant to genetic disorders. She highlighted measurements that inform diagnoses and their implications.<br /><br />Dr. Benina Tallercio covered pigmentary lesions, detailing how patterns like café-au-lait macules and lentigines can signal underlying genetic conditions. She stressed the need for recognizing distribution patterns and associated symptoms while evaluating these dermatological presentations.<br /><br />Lastly, Dr. Brittany Simpson discussed hand morphology, examining positional deviations, changes in digit number, and details of soft tissue that could signify genetic disorders. The session underscored the critical role of comprehensive and precise physical exams in medical genetics, supported by embryological knowledge and pattern recognition. Participants were encouraged to apply learned principles to case examples, enhancing diagnostic proficiency in clinical genetics.

Keywords

ACMG 2025

pediatric genetics

physical exam

precision medicine

genetic diagnosis

nasal morphology

Elements of Morphology

genetic syndromes

trunk anomalies

limb asymmetry

pigmentary lesions

skin manifestations

hand morphology

clinical implications

physical examination

genetic interpretation

geneticists

genetic differential diagnoses

nose morphology

philtrum morphology

nasal features

trunk evaluations

limb evaluations

genetic disorders

clinical genetics