All medicine is personal to the patient who takes it, but the concept of personalized medicine is one way of referring to the exciting new field of precision medicine.
Precision medicine centers on determining what is most effective for the prevention, diagnosis and treatment of disease for patients based on their genetic, environmental and lifestyle factors.1 Rather than “one size fits all” where any patient with a given diagnosis gets the same general treatment, the promise of precision medicine lies in better understanding and predicting treatments that will work best for specific patients.
Some of the earliest achievements have been in cancer, such as the ability to prescribe the monoclonal antibody trastuzumab to patients whose breast cancer tumors express the HER2 gene.2 Precision medicine also has a strong role in research, such as the Precision in Pediatric Sequencing (PIPseq) program at Columbia University Medical Center in which every pediatric cancer patient receives genome sequencing of his or her tumor to personalize treatment using novel biologically targeted investigational agents.3
Precision medicine efforts also benefit our understanding of rare and genetic diseases, knowledge that could lead to better diagnostics and treatment. In 2013, NIH investigators found four regions on the human genome associated with Behcet's disease,4 a rare, chronic, autoinflammatory disorder5 triggered by complex genetic and environmental factors.6 The discovery and related research made "a strong case for a causal connection between Behcet's disease and disorders such as ankylosing spondylitis, psoriasis, and inflammatory bowel disease," said the scientists, noting that the findings raised the possibility that treatments found effective in such illnesses may have some utility in Behcet's disease.7
To understand more about rare and genetic diseases, the U.S. Food and Drug Administration created a new grants program. The FDA grants are designed to support the characterization of rare diseases, including populations of patients identified by their genotype and phenotype and the diseases' natural histories, as well as to develop and validate ways to measure treatment outcomes, biomarkers and companion diagnostics.8
The era of precision medicine is just beginning, and scientists around the world, including those at Shire, are working each day to transform the promise of today's research into the treatment approaches of tomorrow.