Date of Release: July 2, 2025

Expiration Date: July 2, 2027

Credits offered: CME

Estimate time of completion: 1.5 hours

Title: The Physical Exam is the Cornerstone of Precision Medicine

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.

Target Audience

This activity is designed for clinical geneticists, genetic counselors, laboratory professionals, and other healthcare providers involved in the diagnosis and management of genetic conditions. The content is also relevant to researchers and healthcare professionals seeking to stay up to date on emerging advancements and best practices in genetic conditions.

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 Credit^TM

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 enduring 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.

The American Medical Association (AMA) defines physicians as those individuals who have obtained an MD, DO, or equivalent medical degree from another country. Non-physicians may request a certificate of attendance for their participation.

Claiming your Educational Credits

This activity consists of: View content, take a post-test, the test may be taken as often as necessary to achieve a passing score of 80% or better is required to receive credit.  If you do not achieve a passing score, the program will identify which questions you answered incorrectly so that you can review the module and try again. Complete the evaluation form.

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.

Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.

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
• ACMG Content Branding Policy

All of the relevant financial relationships listed for these individuals have been mitigated.

Disclaimer

ACMG educational programs are designed primarily as an educational tool for health care professionals who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and or exclusive of other procedures and that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare professionals should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

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