Next Generation DNA Sequencing: A Review of the Cost Effectiveness and Guidelines [Internet]

Excerpt

Next generation sequencing (NGS) approaches have been used over the past decade in research settings and now are the focus of concerted effort to make them standard practice in clinical settings. Focus has been given to their use in various medical diagnoses such as cardiomyopathy, noninvasive prenatal diagnosis, inherited cancers, and various inherited Mendelian diseases. This movement into a clinical setting has created many questions and concerns in the medical community and with interest groups. Chief among these concerns are: what is the proven cost effectiveness of this type of approach, and what procedural guidelines should be followed in regard to experimental methodology, data storage, report generation, and communication of results.

The purpose of this report is to examine the cost-effectiveness and evidence-based guidelines for the use of NGS in clinical settings.