Genetics has come a long way since the discovery of the basic principles of heredity by an Augustinian monk – Gregor Mendel. Today, we have not only access to information on the sequencing of the entire human genome, but also specialized programs and online databases like The Cancer Genome Atlas (TCGA).
The advancement in the fields of DNA and RNA Seq data analysis has made it possible for scientists to study the polygenic inheritance of diseases, the entire spectrum of phenotypes of a mutated gene, the establishment of gene panels, and the improvement of treatment plans for rare and severe diseases.
Here are five ways in which the study of DNA and RNA has helped mankind in recent years –
1. Breakthroughs in infectious disease research
High throughput transcriptomic studies are fostering biomedicine research. Biomedicine has received a strong impetus owing to the advancement of NGS technology.
RNA Seq data analysis gives rise to large data files that are currently stored in public databases like Gene Expression Omnibus, Array-Express, and GEO. Now, you can find complete pathogen genomes with support from the Advanced Molecular Detection (AMD) program.
The US public health laboratories are adopting NGS technologies for the investigation and treatment of Hep C, Legionella, Tuberculosis, and other foodborne pathogens. DNA and RNA Seq data analysis of isolated samples has become the gold standard for molecular diagnostics due to its high accuracy.
NGS can elucidate one or more target sites within the disease pathway that can be leveraged for the treatment of a rare disease.
2. Improvement of diagnostic outcomes
Due to the low cost and high specificity of NGS, the US Food and Drugs Association (FDA) has finalized a set of guidelines that will help researchers follow standardized protocols. This step aims to catalyze the development of precision medicine and to integrate NGS into mainstream diagnostics and clinical practice.
At the same time, the advancement of NGS technology is improving the outcomes of diagnostic tests by explicitly detecting the level of transcription within a sample tissue. NGS can detect the level of gene expression in sample cells, residual gene function as a result of the deletion of exons, and the pathogenicity of a suspected variant of unknown significance (VUS).
3. Advancement in treatment of rare and life-threatening diseases
The presence of advanced DNA and RNA sequencing methods have given rise to several predictive, prognostic, and diagnostic testing for almost all types of known genetic diseases. The most common among these diseases include different types of cancer, including BRCA1/2 gene dependent cancer, familial colorectal cancer, and familial adenomatous polyposis (FAP).
Currently, The Cancer Genome Atlas (TCGA) possesses genomic sequence, methylation, epigenetics, and CNV data from over 11,000 individuals with 30 distinct types of cancer. NGS based RNA Seq data analysis has facilitated the collection of immense volumes of data on the genetics of cancer, the different prognosis, and potential treatment possibilities. All information on the TCGA and the International Cancer Genome Consortium (ICGC) is now available to the general population as well as healthcare professionals.
4. NGS has advanced precision medicine
NGS plays a significant role in precision medicine, especially in the treatment of cancer. Precision medicine requires extensive genomic data for the treatment of complex genetic and rare diseases. The accuracy and adorability of NGS technologies have accelerated the development of precision medicine.
Currently, research teams and healthcare professionals are using NGS to match the patient’s cancer genome with the best possible therapy. Direct comparison of cancer’s genome with the potential treatment has better outcomes than generic radiotherapy, surgery, and traditional chemotherapy. Patients who receive genome-matched therapy show higher rates of recuperation and survival as compared to those who do not receive sequence-matched therapy.
5. NGS technology and inheritable diseases
The rise of new technologies within the domain of next-generation DNA and RNA sequencing has resulted in significant advances in rare disease research, treatment, and diagnosis. The advancement of NGS allows the isolation of de novo mutations and novel disease-causing genes.
Apart from the genesis of new techniques like reverse phenotyping, (the process of the identification genes linked to more than one pathogenic phenotype), advanced NGS technologies can predict and detect sporadic genetic mutations as well as hereditary mutations in a given sample population.
As of now, NGS based DNA and RNA Seq data analysis are being used for the identification of the genes and mutations responsible for neuromuscular disorders, neurodevelopmental disorders, demyelination diseases, metabolic disorders, and movement disorders.
The study of DNA and RNA has come a long way since the initial discovery of the double helix structure. Next-generation sequencing (NGS) has paved the path for modern biomedicine, molecular diagnostics, and rare diseases research. It is greatly enhanced the chances of survival for someone with a rare and deadly disease.
NGS is currently the only hope for the treatment of rather complicated and rare ailments that include developmental disorders and autoimmune diseases. In fact, current advances in the research of infectious diseases show that there might be a time when personalized cures for viral diseases might also be available.