Web Exclusive

Now Is the Time to Incorporate Precision Medicine
By Nicole Umberger, MD

Precision medicine is certain to revolutionize the entire health care continuum in the coming years. In fact, Forbes predicts it will be one of the industry’s most disruptive technologies.
By definition, precision medicine is the use of genetic sequencing and DNA information from genetic testing labs to personalize and improve care delivery and outcomes. While there are many applications of precision medicine and different types of genetic lab testing available, there are a few common examples, including the following:

• Pharmacogenomic (PGX) testing, which studies how genes affect a person’s response to medications, has the potential to reach the broadest population.

• Genetic screening for inherited conditions tests individuals’ predisposition to hereditary disease. Screenings from genetic testing labs can be used to determine whether a patient carries a pathogenic genetic mutation, such as in the BRCA1 gene, which could predispose them for breast, ovarian, or prostate cancers.

• Carrier screening, which tests for pathogenic mutations that cause recessive genetic disorders, can be used to determine whether an asymptomatic individual is a carrier for the disease and at risk of passing the mutation on to their offspring.

Regardless of the type of genetic lab testing, health care organizations, including both payers and providers, are increasingly incorporating precision medicine into their processes. The goal is to tailor medical treatment plans to patients in order to improve outcomes, provide opportunities to understand how genetic factors influence patient health and potential treatment options, and deliver more targeted care—all in a more effective and cost-efficient manner.

Simultaneously, the use of precision medicine can aid in supporting an organization’s participation in value-based care programs, offering the opportunity to provide more personalized and effective treatment plans that could ultimately lead to improved quality outcomes and cost savings for providers, payers, and patients across the value chain.

Improving Delivery, Quality, and Timeliness of Care
Simply put, precision medicine can help providers improve treatment faster. That’s why it’s important for health care organizations to begin building a precision medicine strategy sooner rather than later. Understanding what medications are most effective and whether they might cause side effects can make a significant difference.

For example, if a young adult is diagnosed with depression, it’s important that they’re treated immediately so their condition doesn’t worsen. Quick interventions help patients avoid missing work or social activities and can aid in the prevention of costly hospitalizations. When prescribing the appropriate antidepressant medications, PGX laboratory testing can help providers determine which ones would most likely best benefit the patient.

With genetic testing for inherited cancer—especially if there’s a known mutation or a strong indicator of a hereditary cancer syndrome within the family—individuals can better understand their own risk and take proactive steps to reduce their risk factors. For example, a patient who discovers she has a pathogenic mutation in BRCA1 could choose to harvest her eggs before having her ovaries removed, preserving her ability to have biological children while reducing her cancer risk.

Carrier testing can be used to help an individual understand their genetic risk factors for passing on certain recessive disorders to a child and help make timely family planning decisions around that information.

Value-Based Care
In addition to the potential for improving treatment, a strong precision medicine program can help organizations strengthen their approach to value-based care.

For any organization measured against how effectively it’s addressing patient needs, getting patients on the correct treatment plans and medicines, and genetic testing not only saves costs but also can lead to faster and more positive outcomes.

Organizations entrenched in either upside or downside risk contracts stand to benefit from savings related to more targeted and effective treatments and improved outcomes. Those participating in upside risk agreements can benefit from the shared savings. Those in downside risk can use precision medicine efforts to help avoid situations in which they lose money or need to refund payments to payers when costs exceed financial benchmarks.

For example, if an organization has the ability to conduct PGX laboratory testing, it can evaluate medication options that are best suited to patients, taking into account their genetic makeup, lifestyle, and social determinants of health. This will ultimately provide a more personalized preventive treatment plan, making care more efficient and leading to a more sustainable organization.

Getting Started
As with any new program, taking the first step can feel overwhelming. There are multiple challenges to consider when working to make precision medicine a practical reality. The following are a few tips and techniques to set up your organization for success.

Understanding Reimbursement
As organizations implement and begin to use genetic laboratory screening within their organizations, it’s important to recognize that, as with any new process, insurance may not yet be aligned with the screening approaches or prepared to reimburse for them. Similarly, as new drugs targeted to specific genetic characteristics begin to arrive on the market, they may be expensive.

Given these complexities, health care organizations should revisit their policies for alerting and consulting their patients regarding potential costs for these various types of screenings and tests.

To maximize reimbursement potential, organizations must ensure they have a good understanding of which type of testing method to use. Some genetic testing labs may tout complete sequencing of PGX genes, a potentially costly endeavor that may not provide any additional clinically relevant information and one that may be excessive when alternative targeted methods cover the same set of clinically relevant variants.

As insurance companies continue to evaluate testing that could be a covered benefit for members, it’s critical for provider organizations to understand the benefits of each type of test to ensure they receive appropriate reimbursement—or, conversely, to prepare patients to cover the cost of a test that may be outside of their insurance benefits.

In addition, health care providers will need to deepen their understanding of molecular genetics. At the very least, it’s imperative clinical staff are up to date on current recommended guidelines regarding the clinical relevance of specific tests or groups of tests, which is another way to help maximize reimbursement. For example, if current guidelines indicate it’s no longer recommended to look at a certain gene to diagnose a condition, payers aren’t likely to approve a charge if a clinician has asked for the test based on evidence that’s been overturned.

Another consideration is that precision medicine laboratory testing offers a long-term benefit. Once an organization has a patient’s genetic information (ie, genotype), the data can be used for multiple purposes and recommendations over time or shared among providers if applicable. While a person’s genotype doesn’t change, medical evidence and guidance is constantly evolving.

Understanding the Technology and Science
Recent offerings in precision medicine are built on clinically relevant evidence and proven techniques that are well established in research and clinical labs throughout the country. Additionally, various regulatory bodies are integral to developing standards and guiding the advancement of the technology and science. One of the foremost is the National Institutes of Health Precision Medicine Initiative Working Group, which is charged with developing a framework for creating and managing a large research cohort to understand the variables that contribute to health and disease.

When researching which genetic testing labs provide the best fit for an organization’s precision medicine program, it’s important to choose one that has a sufficiently educated staff and employs personnel with advanced specialty in genomics and molecular biology. Not only can they provide expert guidance and insight, they also can help determine the type of testing that will best serve an organization based on its specific patient populations. For example, a practice focusing on geriatric medicine would benefit from PGX testing to improve care delivery. Conversely, a carrier or inherited cancer testing may not be as useful because most of their patient populations are beyond typical childbearing age and are at a higher risk for somatic (not inherited) cancer.

Additionally, while technology continues to advance, current PGX testing efforts focus on variants with known clinical relevance to determine metabolizer status rather than sequencing the entire gene. As previously mentioned, some labs cover more variants or even sequence the entire gene even though there is limited or no consensus on the clinical relevance of the additional coverage. This increases testing cost without adding any clinical relevance.

Understanding Consumer Considerations
It’s important to communicate precision medicine’s benefits and limitations to consumers. While precision medicine can provide useful insights to advance treatment and help patients understand their likelihood to develop or pass on specific traits, there are limitations to genetic testing. Therefore, patients need to understand concepts such as residual risk and how lifestyle factors influence health.

For example, with PGX testing, while an effective medication based on genetic factors can be assessed, it’s essential to consider other factors that can impact the optimal treatment regimen, including diet and other medications being taken.

Likewise, with an inherited cancer test, a patient will get a more accurate genetic risk assessment if affected family members are tested and found to have a causative mutation. Carrier screening cannot detect de novo mutations that occur in egg or sperm, and both parents may need to be tested to determine their residual risk of having an affected child, which can vary for each recessive condition.

With any kind of genetic test, there may be unique mutations never seen before, meaning there is no clinical information to be reported. In such cases, this could mean an unknown mutation that can increase hereditary cancer risk, cause a recessive disease in offspring, or change how one responds to medications.

Finally, privacy and data protection also represent a major consideration and concern. Organizations need to develop a strategy and process to ensure patients can opt in or out of sharing their data. While information sharing benefits the advancement of treatment, patients have the right to know how their information, even if anonymized, will be used.

Develop a Strong Strategy
Ultimately, with the right approach, implementing precision medicine can be an effective way to improve care delivery and the patient experience. As the industry rapidly evolves and patients continue to increase their expectations, personalized medical treatments are going to be demanded. Therefore, it behooves organizations to establish their policies and practices now to ensure they can meet these needs.

— Nicole Umberger, MD, is technical director of molecular pathology at LifeBrite Labs.