WES (Whole Exome Sequencing) and WGS (Whole Genome Sequencing), are a financial investment for health, as their cost now amounts to € 490 and € 790 respectively and the results (raw data) resulting from their analyzes can be evaluated and used for life. Information of the utmost importance, if one considers that e.g. The diagnostic odyssey of rare genetic pediatric diseases averages 7 years, resulting in a high mortality rate of about 30% before the age of 5 due to an invalid diagnosis, according to a study by Illumina, which is listed below.
The NsClinical Neoscreen Genomics App is an online, easy-to-use platform that is provided FREE to doctors by Neoscreen. The purpose of this platform is the direct assessment / diagnosis of genetically inherited diseases (neurodevelopmental, cardiological, cancer, ophthalmological, dermatological, metabolic and screening of vectors before pregnancy), from the WES / WGS data.
WES and WGS depart from the logic of static report and acquire a more dynamic nature with direct online management by the user himself through his doctor. NsClinical is a user-friendly application, which without knowledge of bioinformatics analysis has access to about 90,000 mutations resulting from the analysis of WES. With NsClinical, the doctor will be able to access his / her patient's genetic file at any time after his / her consent. Finally, we introduce the reanalysis of data every 6-8 months, as databases are frequently updated.