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

Broadcasting Session with Live Q&A with Faculty
Back by popular demand! This recorded session from the 2025 ACMG Annual Clinical Genetics Meeting returns as a complimentary live webinar, featuring the original faculty for live Q&A. An OnDemand version will be available following the event for a nominal fee as part of the ACMG Education Webinar Series.

Tuesday, May 27, 2025

Agenda:

2:00 pm-3:30 pm ET | Session Broadcast

3:30– 4:00 pm ET | Live Faculty Q&A

1.5 AMA PRA Category 1 Credits™ - Claim by June 27

Description:

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.

Agenda:

Learning Objectives

At the conclusion of this session, participants should be able to:

• 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 café-au-lait macules beyond neurofibromatosis

Planners

Henry J. Mroczkowski, MD, PhD, FACMG (Chair)

University of TN Health Science Ctr

Jane Radford, MHA, CHCP

Director of Education - ACMG

Moderator

Maxwell Lee Summerlin, MD

Children's Hospital Colorado

Presenters

	Anna Hurst, MD, MS, FACMG University of Alabama at Birmingham
	Margaret Adam, MD, MS, FAAP, FACMG Seattle Children's Hospital

Vanina Taliercio, MD University of Utah

Brittany Simpson, MD, FACMG St. Jude Children's Research Hospital

CME AMA PRA Category 1^TM, & CME Other

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation
The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days from the date of the activity. Educational credit requests after this date will not be accepted.

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.

Accredited Continuing Education Financial Disclosure

The American College of Medical Genetics and Genomics (ACMG) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide Accredited Continuing Education (ACE) for physicians. ACMG is an organization committed to improvement of patient care and general health by the incorporation of genetics and genomics into clinical practice.

ACMG has implemented the following procedures to ensure the independence of ACE activities from commercial influence/promotional bias, the Accreditation Council for Continuing Medical Education (ACCME) requires that providers (ACMG) must be able to demonstrate that: 1) everyone in a position to control the content of an ACE activity has disclosed all financial relationships that they have had in the past 24 months with ineligible* companies; 2) ACMG has implemented a mechanism to mitigate relevant financial relationships; and 3) all relevant financial relationships with ineligible companies are disclosed to the learners before the beginning of the educational activity. The learners must also be informed if no relevant financial relationships exist.
*Ineligible companies are defined as those whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.

ACMG Education Policies

Please review the policies below regarding the ACMG Education program

• Financial Disclosures and Mitigation Procedure
• ACMG Content Validation Policy
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All of the relevant financial relationships listed for these individuals have been mitigated.

Questions regarding CE credit should be directed to education@acmg.net