Clinical Application of Next Generation Sequencing and Implication of NY State Guidelines

The clinical applications of Next-Generation Sequencing (NGS) technologies are continuing to advance. Sanger sequencing is still generally considered the gold standard but this comes with low throughput and high cost (American College of Medical Genetics and Genomics, 2013). However advances in this Next Generation Sequencing are reducing the cost of sequencing, whilst facilitating new mechanisms for disease prediction.

Next Generation sequencing is becoming an appealing option with much higher throughput and potential to change the face of genetic medicine (American College of Medical Genetics and Genomics, 2013). However care must be taken to ensure high levels of control are maintained, this can be achieved through validation and reporting controls where specific NGS requirements are expected, in addition to those mandated by clinical accreditation and certification programmes.

Here we present the clinical application of next generation sequencing and implication of the latest NY State Guidelines.