The Vision of an Effective and Equitable Future for Personalized Medicine

August 12, 2015
Joseph Alvarnas, MD

Volume 21, Issue SP12

In his editorial piece, Joseph Alvarnas, MD, narrates the importance of precision medicine in oncology care.

In the 1970s there was an optimistic belief that the cure to cancer existed in finding a simple key that could stop all malignant disease. In this quest for the cancer equivalent to the holy grail, new therapeutics like the BCG vaccine, and later interferon, were heralded in publications like Time Magazine as the “Magic Bullets” that would upend cancer. This early optimism, however, eventually yielded to a sober sense that cancer was both more refractory and complex than initially suspected. Nearly 40 years later, there has been a profound shift in thinking. The naïve belief that there was an inherent simplicity to curing cancer has resulted in a deeper appreciation of the significant complexities of the molecular biology of cancer.

There are approximately 20,000 genes in the human genome that result in the expression of between 17,000 and 21,000 different proteins that constitute the human proteome. Abnormalities and mutations in many of these molecules can, in turn, individually or in networks, lead to the development, evolution, and metastases of cancer. Diagnostic studies based on gene and protein mutations now form the basis of cutting edge cancer diagnostic and prognostic assessment. These molecular targets also are the basis for precision anticancer therapeutics that are capable of treating, and potentially curing, many previously refractory cancers.

Chronic myelogenous leukemia (CML) was the first malignant disease for which a consistent, stereotypic, disease-defining chromosomal translocation was described. It provides the best model for understanding the clinical, laboratory, and economic implications of this new world of molecular and genomic technologybased cancer management. The presence of the Philadelphia chromosome and the resulting bcr-abl fusion gene have provided the molecular basis for profoundly powerful, targeted therapeutic agents that turn a once nearly universally lethal disease into one which, for many patients, can be effectively managed with daily oral treatment. In the management of patients with CML, molecular testing is fundamental to diagnosis confirmation, molecular monitoring of therapeutic effectiveness, mutational analysis for the management of refractory patients, and rational therapeutic escalation between the respective tyrosine kinase inhibitors.

Molecular diagnostic testing and targeted therapies now play an increasingly important role in the management of malignant diseases, including both solid tumors and blood-derived cancers. As molecular- based treatment strategies have become more common, the challenges associated with molecular medicine have become increasingly apparent. How do we ensure the appropriate use of these products? How can the healthcare industry keep up with standards of cancer care that are evolving at an unprecedented pace? How do we grapple with the increasing use of laboratory-based testing methods that are not standardized or FDA approved? How can we deliver care in an economically sustainable manner in the context of increasing expensive molecular-based diagnostic testing and exorbitantly priced targeted therapies? How can we shift from a transactionbased economic model toward one that rewards value delivery?

This issue of Evidence-Based Oncology describes the scope of these challenges and attempts to contend with how best to systematically and sustainably deliver cancer care in this era of molecular medicine. Varuni Kondagunta, MD, from Crystal Run Healthcare reviews the many challenges associated with molecular testing and deliberates the appropriate and inappropriate uses of these testing methods. Jerry Conway and Mark Oldroyd, JD, from Foundation Medicine discuss the unique issues related to reimbursement, access, quality, and clinical validation related to molecular testing and therapeutics. Alan Balch, PhD, who heads the Patient Advocate Foundation, reviews the importance of personalized medicine and the need to eliminate barriers to equitable access to this level of care. Other contributors address the need for the development of new payments models that can ensure the economic sustainability of the delivery of omic-based medicine.

EBO

In the most recent State of the Union address, President Obama challenged the scientific and healthcare communities to create a future of novel, personalized medicine solutions to answer unmet clinical needs. Understanding how best to deliver such innovative care in an effective, equitable, and economically sustainable manner is essential if this vision is to be achieved. These contributors help to frame the obstacles that may stand in the way of achieving this vision and also offer insight into how to best move forward toward realizing this future. Joseph Alvarnas, MD, is associate clinical professor and director of medical quality and quality, risk, and regulatory management, City of Hope, Duarte, CA. He is also the editor-in-chief of Evidence-Based Oncology.