Personalized Medicine

The idea that one drug treatment can fit all has been waning for decades, but up until a decade ago, we lacked the technology and infrastructure to implement novel medical approaches that would give rise to personalized medicine. Still in its embryonic stages, personalized medicine, also known as precision medicine, aims to synthesize relevant genetic and genomic information from a patient to help tailor disease diagnosis, prevention, and treatment. At a population level, the convergence of such data is also used to improve our standard of care for the public at large. It is within this context that President Barack Obama announced the creation of a Precision Medicine Initiative in his 2015 State of the Union address. The initiative’s mission statement is “to enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized treatments” [1]. In this issue of the Yale Journal of Biology and Medicine (YJBM), we focus on personalized medicine and the promises it holds for the future of disease prevention and treatment. Articles cover topics ranging from a historical overview of how the field came into existence to the challenges of funding rare disease research, from improved diagnosis of common disorders to better understanding addiction and how to treat it. Personalized medicine emerged from a growing trend in aiming to give patients individualized care. Tishler gives a historical overview of the collegiate atmosphere that seeded this trend and gave rise to the field of personalized medicine. But without adequate technological advances, this goal would have remained wishful thinking. Lifton describes the impact of reduced sequencing costs, down to levels defying Moore’s Law, and the initiatives aimed at collecting patients’ genetic data that have allowed the field to grow. What to do once you have individual patients’ data? This is the challenge addressed by Gibson et al. in their case study of wellnessoriented personalized medicine and the framework in which individual data should be deployed. Despite its relatively new arrival on the medical scene, personalized medicine has already offered key insight into a number of diseases. Newman et al. highlight what advances personalized medicine has triggered in our understanding of the etiology and development of Castleman disease, a rare heterogeneous disorder. Tackling a more common woe, Duan et al. present the contribution this field of medicine has had on identifying mutations contributing to melanoma and on developing targeted therapies against it. Stence et al. present original data detailing the use of sequencing in complementing the individual diagnosis of patients with thyroid nodules, while Van der Stel details its application to the treatment of addiction. Finally, Schwarz et al. dissect the effect personalized medicine has had in developing human organoids, a putatively ideal model system to test individualized drugs. While a number of initiatives and consortia aimed at collecting and synthesizing individuals “omics” data exist, the application of personalized medicine to rare diseases remains a pecuniary challenge. As a solution to overcome such financial hurdles, Fumagalli and Gouw present the contribution of crowdfunding in helping develop projects on rare diseases such as Sanfilippo syndrome. Personalized medicine offers promise for dissecting mechanisms involved in disease development and how to coin preventive and therapeutic approaches that will address patient idiosyncrasies. As illustrated throughout the articles in this issue of YJBM, furthering our understanding of the etiology and treatment of human diseases through personalized medicine will require the collaboration of patients, researchers, and funding resources. It will enable the existence of a shared framework in which the collection of individual data, their analysis, and applications become routine.