Genomics revolution in healthcareMay 29, 2018
By sequencing cell free DNA from blood, it is now possible to assess an individual’s health and catch diseases like cancer well before they manifest DNA sequencing revolution, which has taken place in the last one decade, is beginning to change the way medicine is practiced and drugs are developed. Cancer is caused by deleterious mutations that accumulate in the genome. Inherited genetic disorders arise due to mutations in DNA that are passed on at birth. Increased risk for developing breast cancer, among others, is linked to variations in genes such as BRCA1 in the genome. Sequencing an individual’s genome or the tumour genome and comparing it to a reference human genome has helped identify the differences that contribute to the disease. In many cases it has the potential to help with treatment decisions. Traditional blood tests involve biochemical analysis, cell type and protein assessments. Blood also contains DNA, which, until now, was ignored. In pregnant mothers, the blood also contains the DNA from the fetus. Scientists have developed methods that can sequence the cell-free DNA in mother’s blood to monitor the genetic health of a developing baby. The same technique can be used to assess an individual’s health and catch diseases like cancer well before they manifest. Sequencing also has been applied to understand the microbiome, an important component of our skin, gut and other body surfaces. The genomics revolution has enabled the sequencing of the genome of a large number of organisms, including bacteria, plants and animals. Not only has it has confirmed the common evolutionary origin of life on earth, it has also provided the code for a number of life forms. Sequencing of plants, including cereals like rice and wheat, has set the stage for rapid crop improvement. Understanding genomes of livestock, such as cattle and goats, has created a rich resource of genetic variations that can be used to produce animals with superior traits. The sequencing advances have enabled deciphering DNA from endangered plants and animals. Such efforts have enabled conservation through effective breeding strategies. In 2012, CRISPR/CAS9, the application of a precise genome editing/engineering technology, was demonstrated. This technology, combined with genome sequence information, is poised to have a profound impact on our ability to dissect, analyze and understand biological systems. It has the potential to manage and/or cure human disease. Editing, combined with sequencing, will enable rapid crop and livestock improvements that have the potential to end hunger and improve the standard of living across the world.