Precision medicine is a term used to describe individualized treatment that encompasses the use of new diagnostics and therapeutics, targeted to the needs of a patient based on his/her own genetic, biomarker, phenotypic, or psychosocial characteristics. In particular, advances such as cell sorting, epigenetics, proteomics, metabolomics, and more are converging with informatics and other technologies in a manner that is rapidly expanding the scope of this field. This article highlights the variety of breakthroughs in the field and addresses challenges that precision medicine may face.
Many current technologies are rapidly enhancing the field of precision medicine. Recombinant biologic agents can now be used as replacement therapies, such as in the treatment of hemophilia, and electronic health records have created a rich and accessible database of clinical information that can be used for research and for clinical care guideline creation. Gene therapy, genetics, and next-generation DNA sequencing methods are perhaps having the greatest effect; this will continue to advance with decreases in costs. Testing for specific abnormalities has aided in the treatment of certain types of cancers. In lung cancer, molecular testing of EGFR, MET, RAS, ALK, and other genetic markers can help identify patients who need treatment and protect patients who do not from costly and toxic therapies. Molecular testing can also screen patients for multiple endocrine neoplasia type 2, which allows for early prophylactic treatment and attention, sparing unaffected family members from unnecessary screening. Such advances decrease harm and create care specific to the individual.
However, there are also challenges. One challenge is the misalignment of patient, physician, health system, payer, and industry interests. In greater detail, patients and physicians are primarily concerned with understanding and treating disease, but physicians must also consider utilization of heath care, which affects the health care system, payer, and industry interests and in turn also relates to costs of new diagnostics or finding more profitable therapies. Managing these interests in an efficacious and cost-effective manner may prove difficult. A second challenge is organizing the wealth of growing information. As disease classification trends toward more precise definitions and discrete disease entities, expanded decision algorithms and treatment options will be needed to properly address each type of treatment. Some conditions are caused by multiple different mutations in different genes, whereas in other cases different mutations in a single gene may lead to a range of diseases. As the complexity of disease becomes more apparent to us, physicians, especially primary care providers, will need to utilize informatics all within clinical guidelines in order to navigate these complex and specialized referral pathways.
Future trends in precision medicine are most likely in targeting genetic pathways in cancer with medications, cancer immunotherapies, DNA sequencing, and use of technology in acute interventions (eg, automated defibrillator). Should stakeholders adapt to these changes, health providers streamline pathways that facilitate specialist access and proper care, and agencies and payers support a cost-effective field, then the advances in precision medicine may be limitless.
University of Pennsylvania Perelman School of Medicine, Philadelphia, PA