Next-generation sequencing (NGS) is one of the most exciting developments for geneticists during the past years. Over the latest 10 years, instead of using the traditional automated Sanger sequencing (the “first-generation” sequencing method), there has been a fundamental shift to apply NGS in genome analysis. Its high throughput and low cost (per base-read) have revolutionized the way researchers plan their study
　　Precision medicine is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person” (https://www.nih.gov/research-training/allofus-research-program) according to the National Institutes of Health (NIH), USA. Under this approach, diagnostic testing is often employed for diagnosis, family member risk prediction, counseling, and/or selecting appropriate therapies based on the patient’s genetic content. Two tasks need to be done before achieving genetics-based precision medicine. The first is to discover the gene(s) responsible for the disease, a process named as “genetic mapping”. The second is to perform appropriate genotyping to make genetic diagnosis fast, accurate and affordable.
　　There have been many good examples of NGS application for endocrine disease. These can be demonstrated in multiple endocrine neoplasia (MEN) type 1, MEN type 2, pseudohypoparathyroidism (PHP), pheochromocytoma/paraganglioma, maturity onset diabetes of the young (MODY), etc.
　　In this presentation, the speaker will report his views and experience in applying NGS to endocrine disease and precision medicine. A NGS-based clinical genetic testing laboratory at National Taiwan University Hospital (http://www.genetics-core-ntuh.tw/index.php) has been operating since 2014.