Abstract

Implementing Next Generation Sequencing Diagnostics in Asia

Richie Soong, Senior Principle Investigator, National University of Singapore

Next generation sequencing (NGS) promises much to clinical diagnostics with its digital output, speed, and depth and breadth of coverage. However, to realize this promise, numerous issues need to be addressed. Technical issues include the selection of targets and assay formats, generation of validation data, handling of low level variants and bioinformatics. Cultural issues include the development of expertise, change management and centralization models. Financial issues include finding the right balance between cost, demand, and throughput. Regulatory issues include quality assurance, legal and ethics concerns. Moreover, the subtleties of Asian healthcare systems mean a significant degree of self-configuration needs to be undertaken. Our efforts to address these issues will be covered in the context of a pilot study on introducing screening for inherited cancer predisposition.