The proverb “May you live in interesting times” could aptly be said to today’s genetic researchers. The past decade has witnessed unprecedented discovery of the genetic and molecular basis of health and disease.
Yet, with these gains in scientific knowledge come great expectations for advances in medicine. Some of these are not easily met.
One of these expectations is in the area of personalized medicine. Nearly immediately after the genome was sequenced in 2003, scientists, physicians, and the general public envisioned a not-too-distant future when medicine would be tailored to each individual’s genetic, protein, or other individual molecular traits. The intent was to replace the traditional model of healthcare that delivers the same treatment to everyone with individualized therapy based on genetic and molecular analysis. With personalized medicine, healthcare outcomes would dramatically improve and inefficiencies would evaporate from a cost-burdened healthcare system.
While tremendous progress has been made, clear success stories are elusive. Consider:
Her2Neu gene analysis, one of the first important genetic testing advances for personalizing therapy, can help assess which women with breast cancer should receive trastuzumab (Herceptin) – but an estimated 5,000 women in the U.S. who may benefit from the therapy do not receive it due to false negatives.
Metastatic colorectal cancer treatment with cetuximab (Erbitux), based on lab testing of EGFR gene pathway status, can prevent millions of dollars being wasted on treatment in patients who won’t respond—but often helps to extend life only a few, if precious, months, for patients who will.
Anaplastic lymphoma kinase (ALK) gene mutations affect response to the recently FDA-approved crizotinib (Xalkori) treatment for non-small cell lung cancer—but are found in only 5% of patients, raising questions about the cost benefits of testing.
One problem with current expectations for personalized medicine is that the complexities of science and medicine never lend themselves well to unassailable conclusions. And generating scientific knowledge is a distinct and in some ways easier process than converting that knowledge into clinical tools.
I believe much has been done and can continue to be done to hasten the fulfillment of personalized medicine as a superior model of healthcare. I also believe diagnostic companies—as the intersection where science and clinical medicine meet—are playing and will play a fundamental role in this transformation. There are certain measures, however, that the industry needs to pursue:
Physician Education. The rapid pace of medical innovation combined with the crushing time pressures of managing an office or hospital practice make it nearly impossible for physicians to keep abreast of healthcare advances. Diagnostic companies that provide balanced information about the advantages and limitations of tests as tools to help predict or monitor response to new therapies provide a much-needed service to physicians seeking education over sales spin.
Patient Engagement. Educating physicians isn’t enough, however; we also need to engage patients. Working with patient advocacy groups and physicians to provide patient-oriented information tools that explain the basis for a therapy—and complex gene-based companion testing—is vital to promoting better health outcomes.
Patient Data Rights. We can’t expect patients to be truly engaged in their healthcare if they don’t have unfettered access to their own health information. While some states afford patients this access, under current statutes, only about half of the U.S. population has direct access. Regulations recently proposed by the U.S. Department of Health and Human Services to allow patients to directly access their data is a step in the right direction toward promoting a better educated public that is able to collaborate with physicians in making informed healthcare decisions.
Healthcare Information Technology. The ability to share information is essential to the advancement of personalized medicine. One of the biggest impediments to the use of IT in healthcare is the lack of interoperability between systems. Quest Diagnostics, through its MedPlus business, has developed integrated systems, such as EMRs, designed to be interoperable with other technology providers–but we’re one of the few who offer this degree of flexibility. We also need to harness these technologies in the service of patient empowerment, such as through personal health records providing test results electronically.
Reimbursement and Perceptions of Value. Focusing on cost per patient fosters the perception that testing to personalize therapy is a commodity rather than the highly sophisticated medical service it truly is. Diagnostic companies need to demonstrate the economics of testing’s overall impact on healthcare delivery, such as by reducing wasteful administration of therapies to non-responders. Focusing on the big picture of economic value will become increasingly important with wider adoption of pay-for-performance reimbursement models.
Scientific Discovery and Validation. The discovery of novel biomarkers and validation of their value as pharmaceutical therapies or diagnostic tests is perhaps the greatest hurdle to the realization of personalized medicine. Randomized large-scale studies to assess causation are the gold standard of scientific validation—and are also among the most costly and time-consuming to implement. The diagnostics industry will never have the margins, and hence the financial resources, to implement these types of trials for every promising companion diagnostic it develops. Scientific rigor should guide all diagnostic R&D. Yet, if in the quest for evidence-based medicine, we set the bar for validation too high, we’ll create a drag on research and development that will slow the pace of new innovation by decades.
Collaboration.Which brings me to the most important measure diagnostic companies can take to advance personalized medicine: foster collaborations with other organizations, from academia to pharmaceutical companies to government agencies, which share our vested interest in personalized models of care. Recent market introductions of a number of FDA-cleared companion diagnostics developed in partnership with pharmaceutical companies suggest that the pace of collaboration will not only accelerate—it will bear more clinically valid medical innovations in the future.
Regulation. The diagnostic industry’s efforts at collaboration will never yield fruit if we can’t operate within a regulatory system that promotes innovation as well as safety. Government commitment to personalized medicine is vital.
It may be decades before we can assess the extent to which personalized medicine has improved the quality and cost-effectiveness of healthcare. And while the answers may never be as simple and straightforward as we’d like, the progress in just a few short years suggests that the movement to a day when therapy is routinely personalized is well on track. Today, we provide lab testing to aid in predicting and monitoring therapy for conditions ranging from childhood leukemia and cardiovascular disease to skin, blood and lung cancer. With creativity and collaboration, I am confident that the diagnostics industry, working with other healthcare providers, will build on this remarkable progress.
As the proverb says, we may live in interesting times. But for me, advancing personalized medicine to improve the lives of patients is the ultimate goal.
