How RNA Sequencing Can Help Improve Diagnosis of Rare Diseases?

 

RNA sequencing is a genomic approach for the identification and quantification analysis of RNA molecules with the ultimate aim of studying cellular responses from a biological sample. The advent of RNA sequencing had fueled several innovations in the medical sector, by facilitating other techniques (that utilize RNA sequencing) such as single nucleotide polymorphisms identification, RNA editing, transcriptional profiling and differential gene expression analysis.

RNA sequencing offers massive diagnostic utility in terms of rare diseases, which ranges from rare muscular disorders to mitochondrial diseases such as mitochondrial depletion syndrome, Leigh’s syndrome, and Kearns-Sayre syndrome, among others. RNA sequencing is an emerging technique to assess progression of different rare diseases. It aids medical professionals to understand various genes linked with specific rare diseases, thereby offering specific treatment for patients.

The rise in the discovery of genes associated with rare diseases coupled with the declining cost of genome sequencing is anticipated to enhance research in the rare disease segment. This is likely to support sequencing, particularly RNA sequencing, in the upcoming years.

Based on the market intelligence published by BIS Research, titled “Global RNA Sequencing Market - Analysis and Forecast, 2019-2028”, the market is expected grow at a significant CAGR of 14.21% during the forecast period, 2019-2028. This growth is driven by factors including increasing adoption of personalized medicine due to decreasing cost of sequencing and increasing utility in predictive biomarkers and therapeutic response research.

Further, amongst the various applications of the RNA sequencing, including drug discovery, translation medicine, diagnostics, and other, the drug discovery segment emerges as a prominent segment. The segment contributed approximately 44.50% share in 2018 and is expected to cover a significant share in the application segment in 2028. This segment is driven by the increase in use of RNA sequencing to modify drugs to suit the requirements of a specific patient owing to the incorporation of precision medicine.

In the RNA sequencing segment, there are several needs that are yet to be addressed by the stakeholders present in the market. These needs are related to shortage of skilled professionals in the field of bioinformatics and genomics. To fulfil this shortage of skilled professionals, regulations for quality analysis and interpretation of sequencing results are required to be established.