The 22nd International Molecular Medicine Tri-Conference is the industry’s Preeminent Event on Molecular Medicine, focusing on Drug Discovery, Genomics, Diagnostics and Information Technology.

The growth in the diagnostics sector and personalized therapy is being driven by opportunities in molecular diagnostics.

Cambridge Healthtech Institute’s Sixth Annual Personalized Diagnostics conference will take place February 16-18 in San Francisco CA.

Next generation sequencing (NGS) has revolutionized genomics and is now on the verge of being widely adopted for medical sequencing. Until recently, comprehensive genetic testing for genetically heterogeneous diseases was limited by the high cost of traditional (Sanger) sequencing technology. NGS technologies have now completely eliminated this limit such that virtually any gene with a published association to the disease of interest can be tested. Whole exome or whole genome sequencing (WES/WGS) is the ultimate genetic test and many success stories provide a taste of its power. However, while the cost of generating high-quality whole genome sequence data is rapidly dropping, analysis of the enormous number of variants detected is still too complex to implement WGS/WES as a first line genetic test. Targeted NGS-based gene panels are typically an order of magnitude smaller than WES/WGS based testing but follow the same principles. Screening large sets of genes is particularly useful when the clinical diagnosis is uncertain as it eliminates the need for costly and lengthy cascade testing that has dominated genetic testing in the past. Drawbacks are significantly increased numbers of detected variants, which poses novel challenges for post-analytic data analyses. The focus of this short course is on understanding the use of NGS in clinical diagnosis, practical implementation of NGS in clinical laboratories and analysis of large data sets by using bioinformatics tools to parse and interpret data in relation to the clinical phenotype. The concluding presentation is dedicated to quality and standardization of NGS assays.

The course provides important insights for overcoming challenges of working with FFPE samples for cancer research such as detecting RNA and profiling miRNA expression. Next generation sequencing (NGS) utilizes FFPE samples for clinical retrospective studies. Successful interpretation of the samples depends on the quality of the starting material.

Advances in NGS have provided unprecedented opportunities to mine genetic data from individuals to populations. The subsequent identification of genetic variants which may be implicated in disease is an important step in linking sequence data with disease and provides new approaches to improve human health. This course will explore the strategies of genomic data analysis and interpretation, an emergent discipline that seeks to deliver better answers from NGS data so that patients and their physicians can determine informed healthcare decisions.