Genetic and Genomic Technologies: Next Generation Sequencing for Inherited Cardiovascular Conditions

What is NGS? Basically, we give this name to a group of technologies that allow the sequencing of thousands or millions of DNA or RNA fragments in parallel, while with the Sanger methods we were amplifying and evaluating those fragments one by one. The result is an enormous increase in the sequencing capacity and speed, and a huge decrease in the cost per sequence. As an example, one of the currently available NGS machines is able to perform the same work as 100,000 Sanger sequencers. In the “Sanger Sequencing era” we had to focus our analysis in a limited number of fragments or genes, and the cost of the studies was a major determinant in the decision to perform genetic studies in patients affected by inherited diseases. Now, we can use the huge capacity of the NGS technologies to perform not only more comprehensive studies, but also cheaper ones. NGS is very useful for the evaluation of many genes, or even a whole genome, in individual patients. It is also very appropriate for the evaluation of lower numbers of genes in multiple patients at the same time, which is very important to increase the accessibility to the genetic tests.