Kengo Takishima, Chairman and CEO at Baylor Genetics, shared on LinkedIn:
“The promise of a genome-first healthcare system has never been more compelling. But as our ability to identify genetic variants continues to advance, so does the need to better understand what those findings mean for patients. RNA Sequencing is helping bridge that gap. By adding another layer of biological insight, it can provide evidence that helps clarify uncertain findings and bring greater confidence to rare disease diagnosis.
In an upcoming GenomeWeb webinar, Christine Eng, MD, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, will highlight how RNA Sequencing can improve variant interpretation and diagnostic outcomes for patients with rare disease. She will also discuss how these insights are already being applied in clinical testing today.
I hope you’ll join us!”
Howard McLeod, Professor of Biology and Medicine at Utah Tech University, Co-Founder at Genovation Health, added his thoughts:
“While adding RNA will have incremental value, one of the reasons genome Medicine has not yet fulfilled its potential is the focus on technology over clinical care (rather than a means to clinical). The laboratories continue to actively stay away from real clinical aspects (a lab report is necessary but not sufficiently useful). That is changing but there’s no reason it can’t be happening today. Other than the lack of will.
A quick step is to create a ‘clinician report’, that accompanies the lab report and is focused on ‘what do I do?’ Current molecular reports are designed to meet regulatory standards and make us labcentric folks happy, but are the source of consternation by the clinician of need. Most of the report content is not of clinical interest and the piece that could be relevant is usually inadequate to give guidance. A 30 second or less read that is only focused on clinical action would make molecular testing much more normal. ”
Read also “Diego A. Díaz-García: Why RNA Sequencing Matters for Identifying Rare NRG1 Fusions in Lung Cancer” on OncoDaily.
Diego A. Díaz-García/X