Endocrinology and Precision Medicine

Advancements in science and technology are changing the way we define disease, develop drugs, and prescribe treatments.The ability to predict the likely development of disease or appropriate response to therapy has been touted as a means to improve clinical outcome.Recently more personalized medicine products are available for patients than ever before. One in 5 FDA approvals in 2014 was for targeted therapies. An increasing number of treatments are personalized across a variety of therapeutic areas. About 6% of medication in endocrinology was for targeted therapies especially in thyroid cancer and osteoporosis. In the era of precision medicine, targeting the mutations driving cancer growth, rather than the tumor site itself, continues to be a successful approach for some patients. In the latest example, researchers found that treating metastatic thyroid cancer patients harboring a BRAF mutation with the targeted therapy.Also the evaluation of osteoporosis and fracture risk is moving from a risk stratification approach to a more individualized approach, in which an individual’s absolute risk of fracture is evaluable as a constellation of the individual’s environmental exposure and genetic makeup.In other field of endocrinology type 2 diabetes mellitus (T2DM) is recognized as a public health problem and increasingly prevalent illness. Despite medical advances in diabetes field, many people still suffer high rates of complications. Key elements of the guideline for diabetes care are based on evidence-based medicine approach and apply for population, not individuals. However, individualized care can improve diabetes management. Personalized medicine tries to find better prediction, prevention, and intervention for T2DM individuals. Precision medicine in diabetes refers to the utility of genomics data of a patient with diabetes to provide the most effective diagnosis strategies and treatment plans. Certain types of monogenic diabetes already present an excellent opportunity to practice personalized medicine. Proper genetic diagnosis and appropriate pharmacological treatment of these patients often prevent unnecessary insulin therapy, simplify and increase efficacy of treatment, and create opportunities for prediction and personalized treatment of diabetes in family members.In future building knowledge networks to store data and building cohorts of patient data for further investigation and updating research infrastructure help us to translating basic science into practice guidelines for clinicians and translating genetic testing results into meaningful patient results.