ACMG Education Workgroups-September 17 - The Utility and Limitations of Diagnostic Transcriptome RNA

September 17 - The Utility and Limitations of Diagnostic Transcriptome RNA

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The educational activity centered on the utility and limitations of diagnostic transcriptome RNA sequencing in diagnosing Mendelian disorders provided valuable insights into the technology's capacity to complement whole genome sequencing (WGS) and whole exome sequencing (WES). Participants reported that RNA sequencing enhances diagnostic outcomes by clarifying variants of unknown significance (VUS) and highlighting issues such as splicing and expression variability. Despite positive feedback, the complexity and limitations of RNA sequencing were acknowledged, underlining the need for ongoing methodological advancements.<br /><br />Many participants plan to apply learnings by incorporating RNA sequencing as a diagnostic tool, particularly for undiagnosed cases and variant analysis. Some expressed intentions to develop or validate RNA sequencing protocols in their labs, considering local constraints such as geographic availability. Future applications highlighted include clinical diagnostics and research, reflecting diverse impacts and a thoughtful integration into clinical frameworks.<br /><br />Feedback on the course was overwhelmingly positive, particularly praising Dr. Pengfei Liu and Dr. Li for their effective presentations. However, some participants noted difficulties with comprehension due to the speaker's accent and low volume, suggesting opportunities for improvement. There is a strong interest in further educational materials and more practical insights, especially concerning gene fusions.<br /><br />Most respondents felt that the course content matched their expectations, with a high percentage confirming that financial relationships were disclosed appropriately. Few participants mentioned potential quality gaps for future programs, mainly desiring more depth in certain areas. Overall, the presentation was considered balanced and free from commercial bias, with Dr. Liu receiving high marks for knowledge and effectiveness. The educational objectives, focusing on the limitations of DNA-based sequencing methods and integrating RNA sequencing into diagnostics, were well met.

Keywords

diagnostic transcriptome RNA sequencing

Mendelian disorders

whole genome sequencing

whole exome sequencing

variants of unknown significance

splicing and expression variability

clinical diagnostics

gene fusions

Dr. Pengfei Liu

educational activity