Researchers Turn Attention to ‘Practice Gap’ as Studies Show Failure to Align Treatment With Genetic Testing Results
by Daryl Pritchard, Ph.D.
“A GENETIC TEST alone is not going to improve health outcomes; the potential of personalized medicine is that the insights from the test and the actions taken as a result will do so.”1
These remarks, made by former LabCorp Chairman and CEO David P. King during The 14th Annual Personalized Medicine Conference at Harvard Medical School, summarize the insights emerging from recently published studies about the value of multi-gene panel testing in non-small cell lung cancer (NSCLC), a clinical area where personalized medicine has made one of its largest footprints.
As explained in a commentary article published in Clinical Lung Cancer this Summer by MD Anderson Cancer Center Professor Apostolia M. Tsimberidou, M.D., Ph.D., and a team of colleagues from Qiagen, ThermoFisher Scientific and the Personalized Medicine Coalition, two recent studies examining the clinical and economic value of next-generation sequencing (NGS)-based diagnostic testing compared with single-gene testing demonstrated statistically insignificant improvement in population-level overall survival for NSCLC patients with only a moderate incremental cost-effectiveness ratio.2 The data also demonstrated, however, that many patients with actionable mutations did not receive the targeted therapies that would have helped them and, moreover, would have increased the cost-effectiveness of the NGS-based tests.
“A genetic test alone is not going to improve health outcomes; the potential of personalized medicine is that the insights from the test and the actions taken as a result will do so.” David P. King, former Chairman, CEO, LabCorp
This clinical practice gap – the failure to provide eligible patients with safer and more effective targeted therapies due to barriers in implementing personalized medicine – reminds us of the importance of understanding and addressing clinical adoption challenges to ensure that physician practices are keeping up with the rapid pace of scientific progress in personalized medicine. The latest edition of the Personalized Medicine Coalition (PMC)’s Personalized Medicine Report shows that the number of personalized medicines on the market in the United States has grown from 132 in 2016 to 286 in 2020, the largest four-year increase since the Coalition began tracking this figure in 2008.3 More than 90 of these medicines are cancer drugs, many of which are approved for lung cancer patients.
In a commentary article recently published in Clinical Lung Cancer, a team of authors led by MD Anderson Cancer Center Professor and Personalized Medicine Coalition Board Member Apostolia M. Tsimberidou, M.D., Ph.D., notes that non-small cell lung cancer patients for whom next-generation sequencing (NGS)-based diagnostics revealed actionable mutations o en do not receive the corresponding targeted therapies. PMC has begun to study the reasons for this “practice gap.”
It is in this context that PMC has partnered with Diaceutics, a data analytics and consulting company, and Reservoir Communications Group, a health policy communications firm, to study the reasons why so many NSCLC patients with actionable mutations are not receiving targeted treatment regimens. Led by a project steering committee consisting of experts from leading health care delivery institutions, industry, and patient groups, PMC will utilize the Diaceutics genetic testing database to draw conclusions about specific clinical practice challenges contributing to this practice gap and estimate the impact that different factors have on the delivery of personalized cancer care. Our hypotheses about the possible contributing factors are in part grounded in what we already know about evolving clinical perspectives on genomic testing.
As discussed during an expert roundtable forum titled Defining the Clinical Utility of Genomic Profiling in Cancer Care, hosted in Washington by PMC in October of 2019, if physicians are to be expected to order and interpret NGS-based tests appropriately and health care systems are going to invest in processes that ensure accuracy and efficiency in producing test results, they must have a complete appreciation of their clinical utility.
“If we focus our energy and efforts on the discovery of new and effective targeted agents, optimize the treatment selection process based on patients’ characteristics, expedite the drug approval process, and eliminate inefficient processes and unnecessary costs, we will accelerate the implementation of precision medicine.” Apostolia M. Tsimberidou, M.D., Ph.D., Professor, MD Anderson Cancer Center
Toraise awareness of underappreciated testing benefits, PMC will soon publish a peer-reviewed report co-authored with the roundtable participants offering an updated definition of the clinical utility of NGS-based tests in cancer care. Applying this expanded definition may encourage the evidence-based use of genomic testing in clinical cancer care by helping physicians, payers and patients recognize the full range of benefits provided to patients and the health care system. Even when genomic tests are ordered and targeted therapies are recommended, the tests may not be covered or adequately reimbursed by payers, which are under increasing pressure to control health care costs. And patients themselves may be reluctant to consider personalized treatment options based on real or perceived concerns about increased out-of-pocket expenses. According to a public opinion survey PMC conducted in 2018 to assess perceptions of personalized medicine, 59 percent of American patients worry that they “might not be able to afford a personalized approach to health care.”4
With these obstacles in mind, Tsimberidou and other proponents for personalized medicine are increasingly focused on reshapinghealth care systems in pursuit of personalized medicine’s benefits for patients and health systems.
“If we focus our energy and efforts on the discovery of new and effective targeted agents, optimize the treatment selection process based on patients’ characteristics, expedite the drug-approval process, and eliminate inefficient processes and unnecessary costs, we will accelerate the implementation of precision medicine,” Tsimberidou explains.5
Daryl Pritchard, Ph.D., is senior vice president, science policy, of the Personalized Medicine Coalition, a nonprofit education and advocacy organization in Washington, DC.
1. King, D. “Personalized Medicine: Promise or Potential (Remarks During the 14th Annual Personalized Medicine Conference at Harvard Medical School).” Personalized Medicine in Brief (Vol. 12). 2019: p. 14. Accessed November 3, 2020, at http://www.personalizedmedicinecoalition.org/Userfiles/PMC-Corporate/file/PM_in_Brief_Vol_122.pdf.
2. Tsimberidou, AM, Elkin, S, Dumanois, R, et al. Clinical and economic value of genetic sequencing for personalized therapy in non–small-cell lung cancer. Clinical Lung Cancer. 2020;21(6): 477- 481. Doi: https://doi.org/10.1016/j.cllc.2020.05.029.
3. Personalized Medicine Coalition. ePersonalized Medicine Report: Opportunity, Challenges, and the Future (Sixth Edition). Available at http://www.personalizedmedicinecoalition.org/Resources/ e_Personalized_Medicine_Report_An_Annual_Overview_of_ the_Field.
4. Personalized Medicine Coalition. Public Perspectives on Personalized Medicine: A Survey of US Public Opinion. Available at http://www.personalizedmedicinecoalition.org/Resources/US_Public_Opinion_ About_Personalized_Medicine_A_Research_Report.
5. American Journal of Managed Care. “Personalized Medicine and Clinical Trials: A Q&A With Apostolia M. Tsimberidou, MD, PhD.” AJMC. August 24, 2017. Accessed November 3, 2020, at https://www.ajmc.com/view/personalized-medicine-and-clinical-trialsarticle.