INFORMATION TOOL FOR NEW GENERATION SEQUENCE DAT A INTERPRETATION

Abstract

The completion of the Human Genome project, which described the sequence of nucleotides in the DNA molecule and identified about 3 billion pairs of nucleotides for a total of about 23,000 to 25,000 genes, personalized medicine became a major challenge for biomedicine. Every year, researchers identify new genes associated with certain patholog ies, then create and test new drugs that target the activity of these genes. Moreover, approximately 150 - 200 genetic tests are used in clinical practice and tests have been developed that include gene panels for many of the most common polygenic diseases. An important role in the development of genomics - based therapies and testing of predisposition to certain diseases lies in molecular analysis techniques, including the development and implementation of state - of - the - art sequencing (SNG) technologies, which have changed the perspectives of analysis and understanding of living beings generally, including allows the assessment of genome variability in populations. The challenge in reporting SNG results appears at the intersection between the necessary and usefu l information for personalized medicine, regarding the appropriate level of detail, so that the use and limitations of the analysis are clearly understood by the user. The time required to evaluate an SNG test can vary between hours and weeks. The final st age of the analysis is represented by the elaboration of the resulting clinical report. The clinical report of SNG results must contain sufficient information to communicate the results of the test and its limitations.