Author: Dr Sharmila Bakshi-'Personalize My Medicine'
Personalized Medicine and Orphan Diseases
Date:03 March 2016 There are over 7000 known rare diseases, with new rare conditions being discovered every week. For far too long, these diseases have simply not been a priority for drug developers, mainly due to the very high costs involved and the smaller patient populations to which these drugs can be marketed. An increasing concern is the exorbitantly high costs of reimbursement of some orphan drugs for payers and the knock-on effect of this on access to those drugs by the very patients who need them.
However, times are changing, and a unique set of circumstances is starting to make orphan drug development much more attractive to biotech and pharmaceutical companies. Factors that are conspiring to create this much-needed shift in priorities include biotechnological breakthroughs such as gene and genome-editing, incredible advances in the quality and speed of genome sequencing, government incentives, changes in legislation related to the approval and marketing of orphan drugs, the pressing need for biotech and pharma to diversify their portfolios and reduce their reliance on blockbuster drugs to generate their revenues, and most crucially, a greater recognition of patients as individuals and a strong focus on personalized and precision medicine.
President Obama’s announcement of the Precision Medicine Initiative in January, 2015, gave center-stage to Precision Medicine. The terms, ‘Personalized Medicine’ and ‘Precision Medicine’ have similar meanings and are often used interchangeably, although sometimes, ‘Personalized Medicine’ is taken to mean developing specialized treatments for an individual rather than a group. A recent National Institutes of Health (NIH) report defines Precision Medicine as, ‘An approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle.’
Given that the majority of rare diseases are due to genetic defects, an individualized approach to medicine and healthcare is likely to result in real benefits for rare disease patients. A key to this ofcourse, will be obtaining and bringing together the relevant data as well as experts in a way that fosters greater collaboration between both sectors and disciplines.
Personalize My Medicine (PMM) was created to address the growing need for a platform for medical innovation that places people and patients at the center. PMM’s aim is to integrate disciplines and to research, inform, and facilitate advancements in healthcare for anyone who wants to be more proactive about their own health. The recent explosion in the number of medical innovations being developed and announced, means that even researchers and doctors are finding it difficult to keep up with advances, let alone apply them to their work. PMM researches a wide array of medical conditions, sets up research networks, crowdfunds for medical innovation, and promotes medical innovation for orphan diseases, which include neglected and rare diseases.
Please be invited to www.personalizemymedicine.com to find out more about how you can work with us, whether you are a patient, a medical professional, innovator, or an individual with a strong interest in patient-centered medicine. Some of the many ways in which you can be involved, include crowdfunding for specific projects, contributing your expertise to a research network, and helping to promote the development of medical innovations for orphan diseases.