Guest Blog
by Joydeep Goswami, President, Clinical Next-Generation Sequencing and Oncology, Thermo Fisher Scientific

Joydeep Goswami

FDA’s recent decision to grant premarket approval of the first next-generation sequencing (NGS)-based companion diagnostic for non-small cell lung cancer (NSCLC) marks an important milestone in precision medicine. Patients and their oncologists now have access to an in vitro diagnostic (IVD) that can help expedite the selection of targeted therapies in days, a key advancement considering traditional testing methods can take several weeks for an answer — time that many NSCLC patients simply don’t have.

While this is great news for one segment of the more than 1.6 million estimated new cases of cancer that will be diagnosed in 2017,¹ what options are available for the rest of the patients battling this disease and for which there is no approved IVD? There has been a lot of debate about laboratory-developed tests (LDTs) versus IVD testing, particularly as to whether to stop the use of LDTs or to regulate them. In the fast-moving field of oncology, where the power of understanding the disease and the selection of precision treatments are being improved rapidly by technologies like NGS, clinicians and oncologists want to be able to incorporate these latest advancements into their clinical diagnostic practices.

While IVD tests undoubtedly are the gold standard in terms of demonstrating clinical validity and utility, developing an IVD can take several years. Patients and doctors dealing with fast moving and fatal diseases like cancer do not have the luxury of waiting until an IVD test is developed and approved in order to have access to a viable test. On the other hand, LDTs allow clinicians and pathologists to validate a diagnostic much faster under the appropriate controls and quality guidelines from the Clinical Laboratory Improvement Amendments (CLIA) and the College of American Pathologists (CAP).

Although LDTs do not meet the same gold standard achieved by FDA-approved IVD tests, they do provide patients and clinicians with a much-needed option and quicker access to the latest advances in science while an equivalent IVD test is being developed. LDTs thus speed the path and utilization of the latest biological discoveries and technological innovations for the benefit of patients. Banning them or over-regulating them could have a negative impact both on innovation and, more importantly, patient access.

But there may be a solution that would enable patients to reap the benefits provided by both testing approaches. In one scenario, FDA could mandate labs to switch from an LDT to an equivalent IVD once one is approved. Alternatively, considering the much more rigorous validation process that an IVD product has to undergo, the Centers for Medicare & Medicaid Services and FDA could work together to encourage their use by setting reimbursement levels for IVDs higher than those associated with LDTs. Such measures could more effectively balance patient safety concerns with the right to benefit from cutting-edge science immediately.

1. American Cancer Society. Cancer Facts & Figures. 2017. https://www.cancer.org/research/cancer-facts-statistics/all-cancer-facts-figures/cancer-facts-figures-2017.html. Accessed July 11, 2017.

by David Davenport, Office Administrator, Personalized Medicine Coalition

J. Craig Venter, Ph.D., Founder, President, CEO, J. Craig Venter Institute, delivers the opening keynote address at the BIO International Convention’s Personalized Medicine & Diagnostics Track last month.

“Health care today is reactive and costly … anything but personalized … but we are now entering a new era where health care is becoming proactive, preventive, highly personalized and most importantly predictive,” said J. Craig Venter, Ph.D., Founder, President, CEO, J. Craig Venter Institute, during his opening keynote at the Personalized Medicine and Diagnostics Track at the 2017 BIO International Convention in San Diego from June 21 – 22. The track, co-organized by PMC, brought together thought leaders to discuss breakthroughs in advancing personalized medicine. From those conversations several themes emerged:

Complex genetic data require a “knowledge network” to translate into personalized care.

During the session titled The Next Frontier: Navigating Clinical Adoption of Personalized Medicine, moderated by PMC Vice President for Science Policy Daryl Pritchard, Ph.D., panelists discussed how to accelerate the clinical adoption of innovative personalized therapies. Jennifer Levin Carter, M.D., Founder and Chief Medical Officer of N-of-One, a clinical diagnostic testing interpretation service company, explained that as data grows in complexity, there is a growing need for partnerships to efficiently analyze the data and develop effective targeted treatment plans. India Hook-Barnard, Ph.D., Director of Research Strategy, Associate Director of Precision Medicine, University of California, San Francisco (UCSF), agreed and discussed the need to build a “knowledge network” that can harness data and expertise to inform provider-patient decision-making.

Discussing how personalized medicine can be integrated into community health centers lacking large research budgets, Lynn Dressler, Dr.P.H., Director of Personalized Medicine and Pharmacogenomics at Mission Health Systems, a rural community health care delivery system in Asheville, North Carolina, discussed the need to better educate physicians and patients as well as the role that a knowledge network could play in providing easy and cost-effective access to diagnostic testing services.

Delivering personalized medicine requires innovative partnerships involving industry, IT companies, providers, payers and the government.

During It’s a Converging World: Innovative Partnerships and Precision Medicine, a panel moderated by Kristin Pothier, Global Head of Life Sciences Strategy, Ernst & Young, discussed the need for “open data” where improved patient care is the shared goal, and how public-private partnerships that address education, evidence development and access to care can help foster personalized medicine.

During a session titled Nevada as a New Model for Population Health Study, Nevada-based health system Renown Health outlined a study in which it partnered with genetic testing company 23andMe to examine whether free access to genetic testing changes participants’ practices in managing their own health and facilitates the utilization of personalized medicine.

In the era of personalized medicine, measuring and delivering value requires a paradigm shift from population-based to individual-based evidence.

Following a discussion on regulatory and reimbursement challenges moderated by Bruce Quinn, M.D., Ph.D., Principal, Bruce Quinn Associates, during which panelists called for the simplification of payment structures to be more consistent, more efficient and more connected to the patient market, a panel moderated by Jennifer Snow, Director of Health Policy at Xcenda, discussed how value assessment frameworks must adapt to consider the value of personalized medicine. During The Whole Picture: Consideration of Personalized Medicine in Value Assessment Frameworks, panelist Mitch Higashi, Ph.D., Vice President, Health Economics and Outcomes Research, U.S., Bristol-Myers Squibb, called for patient-centered definitions of value and advocated for the inclusion of predictive biomarkers in all value frameworks. Donna Cryer, J.D., President, CEO, Global Liver Institute, added that the “patient must be the ultimate ‘arbiter of value’” and urged “transparency” in how value assessment frameworks are used.

Noting that different assessment frameworks have different goals, Roger Longman, CEO, Real Endpoints, called for more dynamic frameworks that allow different stakeholders to “use the same criteria but weigh them differently.” The panel concluded that to advance personalized medicine, value frameworks must be meaningful, practical and predictive for patients; reflect evolving evidence needs like real-world evidence; and consider breakthrough payment structures like bundled payments.

From Promise to Practice: The Way Forward for Personalized Medicine

During the concluding session, Creating a Universal Biomarker Program, moderated by Ian Wright, Owner, Strategic Innovations LLC, on behalf of Cedars-Sinai Precision Health, panelists discussed how to make patients the point of reference for their own care, as opposed to being compared to the “normal” range of population averages in treatment decisions using biomarkers. The speakers concluded that moving in that direction requires providers to establish baselines for each patient, along with tools and metrics to facilitate the approach.

In the words of Donna Cryer, “personalized medicine is the definition of value for a patient.” With the ability to detect diseases before they even express themselves, the promise of personalized medicine has never been greater.

However, changing the health care system to improve patient access to valuable personalized medicines requires innovation and collaboration. As PMC President Edward Abrahams, Ph.D., said during his opening remarks for the track, that change “doesn’t come easily,” but “breakthrough” discussions like these continue to move us forward.

The complete track agenda can be downloaded here.