As clinicians and scientists continue to delve into RNA sequencing benefits, they are learning how RNA sequencing provides insights for people with rare genetic conditions. The learning experience will provide the evidence the group needs to make RNA sequencing widely available for precision diagnostics.
The new RNA sequencing research is being conducted at The Hospital for Sick Children in Toronto Canada. For the first time, this new precision diagnostic tool is being used in Canada and has now been validated for use in clinical settings.
As reported in MedicalXpress, RNA sequencing offers an alternate way to look at genes. RNA sequencing photographs and captures the way the body ‘interprets’ the genetic code instead of looking at the genetic code itself.
By also observing the RNA, scientists may have a better understanding of the way in which the DNA is read.
DNA-based tests take pictures of an individual’s genetic code. Scientists can therefore have a better understanding of the way in which DNA is read by observing RNA because it holds instructions to make proteins for the body.
The new clinical RNA sequencing process being developed at SickKids Hospital is advancing diagnoses for rare genetic disease patients through Precision Child Health. When the two procedures are combined, RNA sequencing and genome sequencing can diagnose which of the findings are relevant and can provide additional information to guide decision-making.
The Trio Approach
The trio study involves performing RNA sequencing on the patient together with both parents. Although in this instance, trio RNA sequencing did not identify new genetic variants, it did reduce the time researchers must spend reviewing results and it created a more efficient analysis.
The Complex Care Program
DNA and RNA combined sequencing offers an improvement in diagnostic information pertaining to complex genetic conditions. Dr. Klentrou of Brock University together with his team of researchers from the SickKids program used RNA and genome sequencing on 97 people from 39 families who are in the Complex Care Program.
The program centers around the diagnosis and care of children who have unexplained and complex medical disorders.
As reported in the American Human Genetics Journal, diagnostic information was obtained for 8% of patients who had not received a confirmed diagnosis initially through genome sequencing. The RNA analysis either confirmed or ruled out the DNA impact that had been identified through genome sequencing.
Co-first author Ashish Deshwar, M.D. commented that the findings clearly showed a benefit when RNA sequencing is paired with genome sequencing in children who may have a genetic diagnosis.
Dr. Deshwar and his associates also noticed inherited RNA patterns among family members that suggest a potential use for future research.
According to Linda Hiraki, M.D., current research includes studying blood samples from lupus patients. Sequencing and analyzing RNA from diverse populations of healthy as well as sick children affords potential for improvement in the way doctors diagnose patients with rare genetic conditions.
DNA vs RNA
Self-replicating DNA is defined as existing in almost all living organisms. RNA is similar to DNA. However, it is usually single-stranded where DNA is double-stranded to enhance stability.
DNA sequencing is defined as determining the sequence of nucleotide bases (As, Ts, Cs, and Gs) in a piece of DNA.
Further, all organisms have their own unique genetic code (genome) composed of the aforementioned nucleotide bases. If you know the sequence of an organism’s bases, then you know its DNA pattern or fingerprint.
The Sick Kids Research Institute
Scientists at the institute have worked for the past six years attempting to include new clinical RNA sequencing into a pathway for rare genetic disorders. Scientists have now created a path that will eventually lead to individualized care for all patients.
