May

27

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.

Agenda:

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

3:30– 4:00 pm ET | Live Faculty Q&A

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.

June

17

Novel Splice-Driven Mechanisms of Human Genetic Diseases Unveiled by Long-Read RNA-Sequencing

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.

Agenda:

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

3:30– 4:00 pm ET | Live Faculty Q&A

Alternative splicing has long been associated with disease mechanisms in different disease, cancer, cardiovascular, pulmonary, neurological and Mendelian disorders, but the application of long read sequencing technologies is a relatively new area of research. In recent years, the reduced cost of long read sequencing, as well as the rapid development of long read-specific bioinformatics tools has made possible the studies that will be highlighted by experts in this field during this session. Long read sequencing offers the capability to sequence full-length mRNA transcripts to more directly link splicing quantitative trait loci (sQTLs) to disease-relevant protein alterations, in other words, a more accurate and efficient connection from DNA to protein, through context-specific transcript expression knowledge. Long read sequencing approaches allow for quantification of disease-associated isoforms and prediction of encoded proteins, which provides a path towards mechanistic understanding of disease. In this session, we will present the latest research that demonstrates how long read RNA-seq enables discovery and contextualization of complex alternative splicing contributing to disease pathophysiology. High-throughput long-read RNA-seq enables identification of thousands of novel isoforms that are entirely absent from existing annotations (GENCODE, RefSeq, etc.). We show how the resulting full-length transcript information clarifies the splicing effect for specific variants identified through short-read based sQTL analysis and reveals new sQTLs that were difficult to identify with only short read sequencing data. Further, with the ability to catalog the entire diversity of full-length transcript isoforms in genes known to have complex splicing, we are now able to query whether certain diseases express dominant isoforms across all patients, or whether the expressions are driven by patient-specific isoform expression. In all cases, speakers in this session will highlight the process by which long read RNA-seq identifies novel isoforms that could be implicated in disease progression, including disease subtype specific and patient-specific isoforms. The first talk gives a higher-level overview of how long-read RNA-seq datasets can be used to bring new insight into human molecular genetics (e.g., addressing incomplete transcript annotation, linking sQTLs to full-length isoforms, more direct links between DNA lesions and the protein alterations). This talk will help the audience members understand how the individual talks tie into the theme of the overall session.

July

15

TBA

August

19

TBA

September

16

TBA

October

21

Expanding Phenotypes of Female Heterozygotes in X-Linked Neurogenetic Conditions

Description:

 This session delves into the complexities of X-linked genetic disorders, emphasizing the variability of clinical presentations in females due to factors such as X-inactivation and partial gene expression. Once rigidly classified as "X-linked recessive" or "dominant," these conditions are now recognized to have a broader spectrum, especially in female heterozygotes. Experts will present case studies and research updates on disorders including Ornithine Transcarbamylase Deficiency, Duchenne Muscular Dystrophy, X-linked Adrenoleukodystrophy, and PDHA1-related Pyruvate Dehydrogenase Deficiency. The program will also touch on evolving terminology around biological sex and gender in medical genetics. Aligned with ACMG’s values, this diverse panel brings together clinicians and researchers from varied backgrounds and identities to promote equity and inclusivity in genetic care.

Agenda:

2:00pm-3:00pm ET

November

18

TBA