A: I remain confident that an individual’s genome will eventually become an important part of their health record and foundational to optimized care. The future healthcare leaders will provide increasingly comprehensive genomic testing with facile incorporation into care. Currently, we are very early in realizing the benefit of genomics and genomic testing is constrained to specific clinical settings where clinical and economic utility have started to get established such as oncology and genetic disease. In these areas, it has become clear that genomic testing does impact management and improve outcomes. So, I believe it is important to provide genomics-based testing to realize these current benefits in specific medical situations while health systems begin to prepare for a future when genomic testing will be more thoroughly integrated across patient care.

A: Health care systems across the globe are economically strained and administrators have the unenviable position of having to allocate constrained resources across a broad range of rapidly changing and, frankly, inspirational medical advances. I start with this because one has to view the challenges to reimbursement through this appropriate lens – that is, reimbursement will only be prioritized if testing improves patient outcomes without adding excessive financial burden on the patient or the system. Thus, the major challenges to reimbursement are 1) the availability of evidence that link testing to improved outcomes, and 2) clear linkage between the modest incremental cost of the test and the resulting benefits to the system due to the improved outcomes.

A: To address the evidence gap, the healthcare industry has to establish a diagnostic-based evidentiary framework of utility. Currently, most evidentiary frameworks used during health technology assessment are modeled after drugs with randomized controlled trials representing the highest level of evidence and “observational” studies being relegated to studies of poor quality. We need the development of a utility framework that still allows for and rewards investments in randomized controlled trials but recognizes there are also very high quality studies that can be performed through retrospective analyses and real world data. Consistent evaluation of evidence with such frameworks will better allow diagnostic companies to de-risk investment in the appropriate studies. Second, we need to ensure health systems are incentivized to improve the quality of care and not the quantity. This has been a theme over the past decade and progress has been made but there remain considerable areas where more care, and not necessarily better care, has higher reimbursement. For genomics to get traction and to help be part of the solution to ever increasing cost of healthcare, the focus has to be on quality as the incorporation of genomics into care will help avoid unnecessary or ineffective therapies.

A: Currently, most evidentiary frameworks used during health technology assessment are modeled after drugs with randomized controlled trials representing the highest level of evidence and “observational” studies being relegated to studies of poor quality. We need the development of a utility framework that still allows for investments in randomized controlled trials but recognizes there are also high quality evidence that can be performed through other mechanisms such as real world data. For a diagnostic to improve outcomes, the information from the test has to be used to alter management in a way that is beneficial to the patient. Prospective trial designs to test the benefit of a biomarker are often inefficient with costs exceeding that justified by rational business models for commercialization of a biomarker. A diagnostic focused evidentiary framework will provide guidance to all stakeholders as to how to robustly evaluate and judge the quality of evidence for validation and utility of biomarkers and thereby help create greater consistency in reimbursement decisions.

A: Even as healthcare moves toward integrated health systems and, if we consider the extreme of a single payer health system, there is a disconnect in time and often in departmental budgets that separate upfront costs and downstream value for genomic testing. The testing costs are immediate and, in and of themselves, are not directly linked to value to the system. These costs are often in Pathology departments or other budgets supporting diagnostic testing. The value of the testing is realized through the subsequent changes in management that improve patient outcomes. The value to the system can include more appropriate treatment and the avoidance of costly yet likely ineffective therapies, a decrease in invasive procedures, or the end of an expensive diagnostic odyssey. Even more broadly, appropriate management can improve the health and productivity of individuals and thereby provide economic value to systems that are not directly related to healthcare. Fortunately, health economic modeling has improved and there is increasing understanding on how to connect the immediate costs of testing with the downstream values. With the movement toward more integrated health care systems, the cost and value are becoming better connected and decision makers at healthcare systems are growing in their sophistication by which they can measure the balance between cost and benefit as they work to provide the best healthcare possible within the constraints of a financially stressed system.