The clinical application of NGS has become easier with the technologies available nowadays. However, the investment needed to bring NGS into medical practice remains significant with the scale of knowledge required being unprecedented at most hospitals.
In addition, the new technologies bring new challenges in translating NGS to clinical practice, at both technical and regulatory level, in terms of data management, interpretation of the results and genetic counselling.
All these aspects justify the consideration of what will be the precise role of NGS in diagnosis, risk assessment, response prediction, and treatment monitoring, today and tomorrow.
The patient is the main beneficiary of the application of NGS in health care and, more specifically in clinical research, who will be able to obtain faster and more precise diagnoses and care.
To reach that objective it proves compulsory greater precision and speed to determine the molecular basis of diseases, higher quality scientific documentation and more precise detection of disease pathologies with targeted therapeutic options.