Clinical RNA Sequencing Platform Can Improve Rare Disease Diagnostics in Pediatrics

RNA sequencing offers an alternative perspective on genes by examining how the body interprets the genetic code rather than focusing solely on the code itself. DNA-based tests like genome sequencing capture an individual's genetic code, but analyzing RNA, which carries protein-building instructions, can improve scientists' understanding of how DNA is being interpreted. Now, a new clinical RNA sequencing platform is aiding research into rare genetic conditions.

Over the past six years, scientists at The Hospital for Sick Children (SickKids, Toronto, ON, Canada) have worked on integrating RNA sequencing into their research pipeline. This technology has now become the first validated RNA sequencing platform in Canada for use in clinical settings as a precision diagnostic tool. Using this platform, the scientists conducted genome and RNA sequencing on 97 individuals from 39 different families. The RNA analysis provided additional diagnostic information for 8% of patients whose diagnoses were not confirmed through genome sequencing alone, either confirming or ruling out the impact of a DNA variant identified during genome sequencing.

The study is also among the first to explore the utility of a trio-approach to RNA sequencing, which involves performing RNA sequencing on the affected individual and both parents. Although trio RNA sequencing did not reveal any new genetic variants in this population, it reduced the time researchers spent reviewing results and increased analysis efficiency. As more research is conducted into RNA sequencing's benefits, scientists and clinicians are eager to further delineate the situations in which clinical RNA sequencing can offer valuable insights for patients with rare genetic conditions and other patient groups. Establishing this evidence will be crucial for informing decisions about making RNA sequencing more widely available for precision diagnostics.

“We hope that the results of our study will help support the inclusion of clinical based RNA-testing in diagnostic workflows for children with rare conditions,” said co-leads and physician-scientists Drs. Gregory Costain and Jim Dowling.

“By carefully sequencing and analyzing RNA from diverse populations of sick and healthy children we have the potential to improve how we find diagnoses for patients with rare genetic conditions,” said senior scientist Dr. Michael Wilson.

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