Trustee's partnership with ECRI Institute, an independent non-profit organization that uses evidence-based research to objectively assess medical procedures, devices, drugs and processes, continues with this discussion of genetic testing and preparing for its impact on hospitals and systems.
Although the Human Genome Project was completed more than a decade ago, genomics and genetic testing are just now reaching a point where we can begin to use genetic information to predict future disease progression and the likelihood of specific treatment success. Novel techniques have lowered the cost of gene sequencing, and new research furthers our understanding of the genetic underpinnings of disease as well as our predispositions to respond to specific therapies and drugs. With the abundance of genetic data available, health care institutions — and society in general — must plan for its impact.
Imagine the ramifications of differentiating lethal from nonlethal prostate cancer: Prostate surgery might be reserved for only those patients who are likely to die from the disease. Or, consider the implications of more accurate predictions of breast and ovarian cancer risk: Mammography screening might be eliminated. But along with the benefits, hospitals and systems must consider the ethical dilemmas and trade-offs in whole-genome screening. Would it improve the health of the population? Would it cost more — or worry us more — in the long run?
While the effects of genomics will undoubtedly amaze us over time, the challenge hospital and system leaders face is judging the timing and magnitude of these effects. For boards, we suggest three key questions to prepare for the expansion of genomics in medicine:
1. What is our organization’s genomics strategy?
2. What do we know about regulatory and reimbursement issues and changes related to genomics?
3. What expertise do we have in the discipline of probability to help our clinicians guide our patients?
What Is Our Strategy?
Genomics is disruptive. The advent of new tests, techniques and data analytics position nearly every medical discipline for potentially dramatic changes in how care is delivered.
There already exist numerous genetic tests for diseases such as Huntington’s disease, multiple kinds of cancer, cystic fibrosis, muscular dystrophy, epilepsy and autism, to name a few. At ECRI Institute, we recently found more than 26,000 specific genetic tests listed for more than 5,000 diseases offered by more than 400 labs. Scientists can sequence an individual’s entire genome and look for all the unwanted variations at one time. Genetic disorders are uncovered while helping to increase understanding of the treatments or drugs that might work best for that person. While not everybody has a particular disease, everyone has unique genetic variations that make one more or less susceptible or likely to have some disease.
Given the rapid growth in testing, every health care provider will feel the impact of genomics on its overall strategic plan. Genomics will change what diagnostic services and treatments patients need — dramatically, in some cases. Even relatively new treatments such as bariatric surgery may no longer be necessary if researchers discover how to turn the right genetic switches to control obesity. Similarly, uncovering a novel genetic approach to mitigating plaque buildup could reduce cardiovascular disease by half.
Simply put, every clinical service line should have a discussion of potential changes. While the timing and magnitude will be difficult to predict, it’s imperative to pay attention to this research now. The notion of extrapolating the future need for clinical services by simply reviewing demographics and disease prevalence will become less reliable in the immediate future as genomics makes its mark. Clinical service leaders must track genomics developments and understand the potential implications for future disruptive breakthroughs. And, every organization should be compiling a list of potential impacts from genomics, and that list should be updated and included in all service-line planning.
Who Governs and Who Pays?
The reimbursement and regulatory issues surrounding genomics have not been resolved nor clarified enough for anyone to say that they have a thorough understanding. Nevertheless, trustees should pay attention to the three federal agencies that affect genetic testing oversight: the Centers for Medicare & Medicaid Services, the Food and Drug Administration, and the Federal Trade Commission. Without going into specifics, health care providers need to understand the current role each agency plays and to watch for changes as genomics expands. For example, the National Institutes of Health National Human Genome Research Institute states:
“Whether FDA regulates a test is determined by how it comes to market. A test may be marketed as a commercial test ‘kit,’ a group of reagents used in the processing of genetic samples that are packaged together and sold to multiple labs. More commonly, a test comes to market as a laboratory-developed test (LDT), where the test is developed and performed by a single laboratory, and where specimen samples are sent to that laboratory to be tested. The FDA regulates only tests sold as kits and, to date, has practiced ‘enforcement discretion’ for LDTs.”
The FDA has expressed its intent to change the enforcement discretion policy for LDTs, and it has published two guidance documents regarding the framework for regulating these tests in the future, though it is not clear when the guidance documents will be finalized.
Discussions about reimbursement for genetic testing will continue to evolve. In general, the true clinical and cost implications for most of the already available tests is unknown, and the work to determine clinical utility is expensive and time-consuming. Given this, the future for reimbursement likely will remain in flux for some time. So, the genomics revolution’s true financial ramifications are still unknown and must be reviewed on an individual test basis.
What Expertise Do We Have in Probability?
There is an inherent irony in much of genetic testing: While we think of it as uncovering the ultimate molecular basis of disease, in truth it often reveals only the ultimate probability of disease. Understanding what to do in the face of the probability of certain outcomes is not easy. Human minds are not innately wired to understand probability. Yet patients and providers will be making life or death decisions based on screening tools that can offer only a probability of developing a disease.
For clinicians, determining the best course of action to recommend for a patient and, for patients, choosing what to do in the face of those recommendations, probability assessment and its real meaning will be of ever-increasing importance. If hospitals and systems expect to help patients improve their health, and if the health care system intends to become accountable for population health, then we must help everyone make better decisions, which will require understanding probability. ECRI Institute advises that providers have in-house expertise in probability assessment available not just for genetic counseling, but also for clinical decision-making.
Chances are, the growing field of genomics will inform and improve our ability to see our future health and treat our current conditions. There is much to be hopeful about and little to worry about. Still, genomics likely will disrupt the status quo in many clinical domains. So, do not leave the planning for genomics in your organization to chance. Get it on the agenda, and put the odds in your favor.
Anthony J. Montagnolo, M.S. (firstname.lastname@example.org) is executive vice president and chief operating officer of ECRI Institute, Plymouth Meeting, Pa.