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

Date of Release: September 30, 2024

Expiration Date:  September 30, 2026

Credits offered: CME

Estimate time of completion: 1 hour per webinar

Course must be completed by the expiration date

www.acmgeducation.net

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.

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 cases, technical considerations, and interpretation of RNA sequencing data to improve patient outcomes.

CME AMA PRA Category 1 ^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 1.0 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

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.

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 the 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 providers 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 provider 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