Precision medicine is an emerging form of disease diagnosis and prevention that uses genetic and other unique personalized information to deliver the right treatment, to the right person, at the right time. As importantly, the use of Precision Medicine may spare some individuals the costs and side effects of targeted therapies from which they would not benefit, based on their individualized makeup.
How does Precision Medicine Change What We Know?
While the president's initiative may be new, Precision Medicine has long been a cornerstone of medical diagnosis and treatment, particularly at Penn. For example, we now take for granted that bacterial infections are diagnosed based on identification of the causative organism; treatment is then based on an assessment of antibiotic sensitivities. This is Precision Medicine.
What is new, however, is the ability of our diagnostic tools to rapidly expand the scope of detailed, molecular information that can be used to better predict responsiveness to treatment and health outcomes. Advances in gene sequencing and other diagnostic methods for assessing a person's unique makeup are resulting in new classifications of disease, which may require different approaches to treatment.
In fact, Precision Medicine has matured to the point that it is poised to impact clinical care, and in many instances, reduce costs while improving outcomes.
Identifying and Sequencing Liquid and Solid Tumors
In February 2013, Penn Medicine launched the Center for Personalized Diagnostics (CPD) with an initial focus on identifying genetic mutations in malignant tumors (cancers) that could potentially respond to targeted therapies. Since that time, the Center for Personalized Diagnostics has expanded the number and type of panels they run, to include tumors affecting blood, bone marrow and lymph nodes; as well as solid tumors, such as lung cancer.
As one of few centers in the country that can sequence and analyze panels (or groups) of potential genetic mutations in both hematologic malignancies and solid tumors, we have found disease-associated genetic mutations in 75% of the tests performed. By integrating Molecular Genetics, Informatics, and Genomic Pathology, Precision Medicine will continue to have a major impact in cancer, particularly with the advent of targeted therapies (Precision Therapeutics) based upon specific mutations and altered pathways (e.g., BRAF, ALK).
Moreover, Precision Medicine can apply to virtually every medical field - from rare neurological disorders to common conditions, such as chest pain or thyroid nodules. Understanding an individual's personal makeup could enable earlier assessment of predisposition to developing disease, earlier screening, improved diagnosis and prognosis, prescription of more appropriate drugs, and improved monitoring over time. As we continue to advance our understanding of the genome, we will also find more and more ways to translate this information into targeted therapies and preventative measures, relying on an equally impressive growth in health technology.
Advancing the Practice of Medicine
It is clear that Precision Medicine is poised to be among the most important developments in modern medicine and one that we, as the first school of medicine in the United States, are ideally poised to shape for our nation and our world.