The Utility and limitations of Diagnostic Transcriptome RNA Sequencing in Mendelian Disorders (2024)

The Utility and limitations of Diagnostic Transcriptome RNA Sequencing in Mendelian Disorders

Tuesday, September 17, 2024 | 2:00pm-3:00pm ET

Description:

Exome and genome sequencing have become cornerstones of genetic diagnostics, yet a significant number of cases yield uncertain or inconclusive results. In this webinar, Dr. Pengfei Liu of Baylor College of Medicine will delve into the application of RNA sequencing as a powerful adjunct to traditional DNA-based methods. The session will focus on how RNA sequencing can enhance diagnostic yield by providing insights into gene expression and splicing abnormalities, thus offering solutions for challenging cases that remain unresolved with exome or genome sequencing alone.

Target Audience: This webinar is specifically tailored for geneticists.

Agenda:

Learning Objectives

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

1. Assess the limitations of DNA-based sequencing methods: Participants will review the common reasons why exome and genome sequencing may fail to provide definitive diagnoses in certain genetic disorders, and the need for complementary approaches.
2. Examine the diagnostic value of RNA sequencing: Attendees will explore how RNA sequencing can detect aberrant splicing, allele-specific expression, and other RNA-level events, providing a more comprehensive understanding of genetic variants and their pathogenicity.
3. Integrate RNA sequencing into clinical diagnostics: Geneticists will learn practical approaches for incorporating RNA sequencing into their diagnostic toolkit, including the selection of appropriate case

Moderator:

Hong Li, MD, PhD, FACMG Associate Professor, Emory University As a clinical and biochemical geneticist, I am passionate about diagnosing and treating children and families with rare diseases. My clinical activities, educational roles, and research embrace all aspects of rare disease care. I oversee the Emory Metabolic Clinic, where we care for nearly 900 patients with rare inborn errors of metabolism. As the Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), I am extensively involved in Georgia’s NBS new development, implementation, and clinical follow-up for children with metabolic disorders. As the vice-chief of the genetics service at Children’s Healthcare of Atlanta, my colleagues and I provide genetic consultation to pediatric patients from the entire state. Currently, I am the medical director of Emory CRD (CTCF-related disorder) Center and the geneticist of the multidisciplinary differences of sex development (DSD) clinic at Children's Healthcare of Atlanta (CHOA) to provide expertise on molecular diagnosis to guide treatment. I am a committee member of NORD data collection & analysis working group that aims to promote collaboration and data sharing for best care and research on rare diseases. I have multiple educational roles, including the assistant program director for Medical Biochemical Genetics Fellowship program, the CME course director for weekly Emory genetics clinical conferences, and bedside teacher for medical students, residents, and genetics counseling students. I also sponsored the first Emory Genetics Interest Group at Emory College to foster interest and attract intelligent students to join the growing field of medical genetics. My research interests are primarily devoted to exciting clinical trials for rare diseases. I’m the principal investigator for multiple Phase I/II and III clinical trials. Through broad collaboration, I am also interested in new gene discovery and better defining the phenotype of rare genetic diseases.

Presenter:

Pengfei Liu, PhD Associate Professor, Baylor College of Medicine Dr. Pengfei Liu is an Associate Professor at the Molecular and Human Genetics Department at Baylor College of Medicine. Dr. Liu serves as the Director of the Medical Genetics Multiomics Laboratory (MGML) and the Director of the ACGME-accredited Laboratory Genetics and Genomics Fellowship Training Program. Dr. Liu is also an associate clinical director at the Baylor Genetics diagnostic laboratory. The primary research interest of Dr. Liu's lab is to develop novel approaches to improve the implementation of genomic medicine, and to utilize clinical diagnostic big data to generate knowledge that advances genomic science.

Accredited Continuing Education Information:

Continuing Medical Education (CME AMA & 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 1.0 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

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days of 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 Information:

Continuing Medical Education (CME AMA & 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 1.0 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

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days of 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.

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