Personalized medicine is the tailoring of medical treatment to the individual characteristics of each patient. The approach relies on scientific breakthroughs in our understanding of how a person's unique molecular and genetic profile makes them susceptible to certain diseases. This same research is increasing our ability to predict which medical treatments will be safe and effective for each patient, and which ones will not be. Personalized medicine may be considered an extension of traditional approaches to understanding and treating disease. Equipped with tools that are more precise, physicians can select a therapy or treatment protocol based on a patient's molecular profile that may not only minimize harmful side effects and ensure a more successful outcome, but can also help contain costs compared with a trial-and-error approach to disease treatment. Personalized medicine has the potential to change the way we think about, identify and manage health problems. It is already having an exciting impact on both clinical research and patient care, and this impact will grow as our understanding and technologies improve.
One of the earliest and most common examples of personalized medicine came in trastuzumab. About 30% of patients with breast cancer have a form that over-expresses a protein called HER2, which is not responsive to standard therapy. Trastuzumab was approved for patients with HER2 positive tumors in 1998 and further research in 2005 showed that it reduced recurrence by 52% in combination with chemotherapy.
BRAF is the human gene responsible for the production of a protein called B-Raf, which is involved in sending signals inside cells to direct cell growth, and shown to be mutated in cancers. In 2011, a drug called vemurafenib, a B-Raf protein inhibitor, and the companion BRAF V600E Mutation Test were approved for the treatment of late stage melanoma. Vemurafenib only works in the treatment of patients whose cancer tests positive for the V600E BRAF mutation. Around 60% of patients with melanoma have a BRAF mutation, and approximately 90% of those are the BRAF V600E mutation.
Prior to the development of a gene expression profiling test to identify heart transplant recipients' probability of rejecting a transplanted organ, the primary method for managing heart transplant rejection was the invasive technique of endomyocardial biopsy a heart biopsy. Today, a genetic diagnostic test is performed on a blood sample, providing a non-invasive test to help manage the care of patients post-transplant. New research suggests that ongoing testing may be useful in longer-term patient management by predicting risk of rejection and guiding more tailored immunosuppressive drug regimes.
The people and groups engaged in personalized medicine and helping to drive it forward the realization of personalized medicine relies on the input and contributions of a broad community of stakeholders, all working together toward a shared goal of harnessing breakthroughs in science and technology to improve patient care.
Creating electronic tools and resources to collect and store patient health information, making it available to inform clinical decisions and improve safety while protecting patient privacy Advocacy Groups Advancing personalized medicine in patient care by educating consumers and providers, accelerating research, and supporting necessary changes in policy and regulation
Exploring new business models to incentivize the practice of personalized medicine through appropriate reimbursement of molecular diagnostics, targeted therapies, and other personalized treatment protocols.
The implementation of personalized medicine requires a confluence of multiple factors. Full implementation of personalized medicine can only be achieved when all sectors converge toward the center.
Personalized Medicine Coalition, The Case for Personalized Medicine, May 2009, view link (Accessed 12 May 2011); Piccart-Gebhart MJ, Procter M, Leyland-Jones B, et al. Trastuzumab after adjuvant chemotherapy in her2-positive breast cancer. N Eng J Med 2005; 353:1659-72; Romond EH, Perez EA, Bryant J, et al. Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N Eng J Med 2005; 353:1673-84.
Chapman P, Hauschild A, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Eng J Med 2011; 364(26):2507-2516.