The mapping of the human genome 15 years ago was a fundamental step forward in medicine, but the benefits to patients around the world are just beginning to be realized. We’ve seen the greatest impact to clinical practice in the field of oncology. The entire medical community—patients, caregivers and healthcare providers—has given the technologies that resulted from the human genome mapping in cancer diagnosis and treatment a lot of attention and many patients have benefited as a result. In contrast, the role and impact of the human genome in cardiovascular medicine have experienced a slower start. The ins and the outs of genomic testing (e.g., genetic and gene expression tests) in cardiology and how its understanding can contribute to patient care have received much less attention—until now.
Recently, the American Heart Association (AHA) published its 2017 Scientific Statement summarizing various applications of the expressed genome (“omics”) in cardiovascular disease diagnosis and prediction with the goal of improving patient care. The authors of the Scientific Statement concluded that gene expression tests are an exciting development and considered them to be an important part of the advancement of cardiac care.
What this means is that the cardiovascular space is now beginning to follow the path of oncology. It has been a slow start, but we are seeing a marked acceleration. The fact that the AHA had spent the time and energy in drafting the statement is validation that genetics and genomics are starting to have an impact on cardiovascular care. And payers should take note.
So what should payers consider when deciding whether to cover a gene expression test? Here are five questions to ask yourself:
1. Do governing bodies find the tests useful? If they do, clinicians will want to use it. For instance, this is the first time the AHA has made a statement about the current use, and future potential, of gene expression technologies in cardiac care, like the age, sex and gene expression (ASGES) test which is one of the proof points utilized in the paper. After reviewing the research, the paper states that the science demonstrated that the ASGES test has been proven valid and useful.
2. Is the data package robust? Payers should look at both the breadth and depth of the published literature. Products early in their commercialization cycle may look promising but missing key pieces to determine their clinical effectiveness. Payers should look at analytic validity, clinical validity, clinical utility as well as economic utility when completing a product review. Payers may also take their lead from external review groups, health technology assessment groups, as well as medical societies.
3. Will the test change the current treatment paradigm? Patients receiving cardiac care are usually given standard care that follow a protocol. These guidelines can take five to 10 years to get updated. However, medicine is evolving, and new technologies are emerging rapidly that can change how patients are treated—faster, safer, and better. Real-time information and published studies can help better guide patient care, prior to guidelines being updated. Real-world registries can also be effective ways to gauge the impact of a given technology as they include the “messiness” of treating patients.
4. Will incorporation of the test reduce costs? While medical policy teams are often hesitant to look at economic analysis, the impact of costs should not be ignored. New technologies must improve patient care while being sensitive to the cost of that care. New genomic technologies are rarely a one to one replacement of an existing technology or test. Both clinical and economic analysis must account for down stream cost avoidance when a new genomic test proves to be more accurate than the existing modalities. For example, with the ASGES test, patients with low risk for obstructive coronary artery disease can avoid common, costly standard cardiac imaging tests and procedures. This translates into savings for payers and tangible benefit to patients.
5. Does the test fill an actual need? Many tests are developed for a number of reasons. In cardiology, we know that clinicians often feel pressure to perform tests to help alleviate patient concerns and avoid repercussions of potential mistakes. After all, affairs of the heart are serious business. In cardiology, like many other disease areas, there are many test technologies that have been in clinical practice for decades that have poor performance but was the best available at the time. Often the ‘clinical need’ is for those technologies to be replaced or supplemented with an updated testing protocol. Tests like the age, sex and gene expression test were built to fill stated needs in patient care. And fulfilling those needs helps better direct care and the streamline the use of expensive tests to only those who truly need them.
In short, we know that genomic testing is the exciting new frontier in cardiology. These tests are currently available in the market, but patient access is limited because of coverage. Thus, expanded coverage can help answer a number of unmet needs. Not only do genomic tests enable doctors to provide improved personalized care for their patients, they have the potential to reduce costs to the overall system. Covering them is a win for all parties—the payers, clinicians and patients alike.
David Levison is founder and chief strategy officer at CardioDx.