Abstract

Opportunities and Challenges of Implementing Next Generation Sequencing (NGS) for Delivery of Genomic Medicine

Nazneen Aziz, Executive Director, Kaiser Permanente Research Bank

Many important advances in technologies for molecular analyses have fostered the rapid growth in molecular medicine. The use of these technologies in testing of DNA, RNA, proteins for screening, diagnosing and prognosis of patient’s disease, and also in the development of new biologics and small molecule drugs have given rise to a science that 30 years ago was practically non-existent. Each of these technologies has led to significant advances, but one in particular, can be undoubtedly labeled as ‘disruptive’.  Next generation sequencing (NGS), introduced in 2005, has revolutionized the field by increasing the speed at which the genome can be sequenced at an exponentially lower cost. Within 5 years of its introduction and widespread use in research, NGS is transforming molecular medicine.  NGS has a higher throughput and lower cost per base and therefore has been rapidly adopted into clinical testing. What is particularly intriguing about NGS’s rapid adoption into clinical testing is that it has a number of intricacies associated with its implementation that is unfamiliar to clinical laboratory or to healthcare professionals. Importantly, the implementation of genomic analysis into routine clinical practice will take a dedicated and collaborative effort between physicians, scientists, and all healthcare professionals. There are knowledge gaps in understanding when and what tests to order, how tests are validated and made ready for clinical use and how to interpret test reports.  Additionally, there is lack of data sharing to eradicate the limited understanding of genomic variants and their involvement in health and disease. Dr. Aziz will address the opportunities, complexities and challenges associated within our healthcare system and institutions, for implementing genomics into clinical practice.