The precision medicine revolution

Countless physician groups are grappling with how best to introduce and leverage genomics in their practices.

With good reason. Precision medicine appears to be an unstoppable force that could revolutionize how physicians diagnose and treat patients.

The science of genomics has advanced at a rapid pace, and new discoveries about how these insights impact clinical decision-making are circulated almost weekly. Consumer demand is rising, thanks to regulatory approval for direct-to-consumer genetic testing and resulting media coverage.

In my own practice, more and more patients come to office visits with questions about how genomics could help identify their risk for disease, how this data could guide wellness, prevention and screening activities, and if we should adjust medications and other therapies based on their genomic profile.

So, how do you get started?

A business case for precision medicine

The most critical step is understanding what value precision medicine brings to your practice, and where it can have greatest impact from both a clinical and business perspective.

Consider how genomics can improve patient care:

When sharing family history during her initial visit, 34-year-old Emily reported incidents of breast cancer, colon cancer, high blood pressure and clinical depression within the past two generations. Genomic testing can help her physician identify which diseases pose a genuine risk for Emily – driving subsequent wellness activities and preventive care, and determining which tests and screening procedures should be ordered (and when) as she ages.

An avid bicyclist, Carlos recently suffered multiple fractures to his left wrist after a fall. Pharmacogenomics (PGx) testing would enable his provider to identify pain killers that Carlos metabolizes well, avoiding trial-and-error prescription and dosing delays while accelerating physical therapy and rehabilitation.

The medical benefits in both these examples are obvious. Emily’s physician can relieve her worries by learning which genetic variants she has inherited–and which she has not. Rather than conducting unnecessary or early screening for conditions for which she may not be at elevated risk, her physician reduces unnecessary costs and the possibility of associated side effects or complications.

Likewise, if his physician discovers the most effective drug immediately, Carlos has a shorter length of stay (if hospitalized) and fewer follow-up visits for medication adjustments. Plus, he feels less pain, heals faster and gets back to a higher quality of life sooner.

The net-net: lower cost of care and better outcomes faster. This translates not only into happy patients and higher satisfaction ratings, but also improved quality scores and a healthy bottom line for practices participating in accountable care organizations and shared savings programs.

According to independent healthcare consultant Bryon Cipriani, one study of 1,000 subjects has shown that practices can save $1,100-1,600 per patient per year when genomic testing is done.

The reimbursement landscape

Unless a practice has its own genetic testing lab, it will not bear the cost of processing and analyzing genomic tests physicians order. But even if they outsource genetic tests, most organizations are acutely aware of coverage because, if external labs are not reimbursed, they pass the cost on to the practice’s patients.

Unfortunately, reimbursement policy lags clinical practice when it comes to precision medicine – and payment varies wildly from state to state and test to test. Medicare coverage is advancing most rapidly, Cipriani says, with 80 percent of carriers covering specific pharmacogenomics testing such as behavioral health and pain panels (if appropriate ICD-10 codes are reported, supported by required documentation.)

Likewise, genomics tests may be reimbursed to identify disease risk and hereditable conditions (e.g., BRCA 1 and 2 or familial hypercholesterolemia). Medicaid plans also often provide coverage for specific tests, and may offer the best reimbursement, especially in areas where opioid addiction and behavioral health challenges are acute.

Commercial plans are less predictable, Cipriani adds. Some payers offer a flat fee, often a few hundred dollars, while others reimburse testing on a case by case basis–with payments for the same diagnostic codes ranging from just a few dollars to thousands. The advent and spread of Molecular Diagnostic Services (MolDX) is stabilizing payment in certain areas, although almost always at lower rates than what might have previously been paid.

6 steps to precision medicine

Understand your patient population. Who can benefit most from genomic testing? Do you have a large number of polypharmacy patients? Individuals approaching the age where risk for certain conditions rises (coronary artery disease, cancer)? This information will help you understand if pharmacogenomics (how individual patients respond to specific medications) would deliver value, or if cancer genomics or germline testing for hereditable diseases is more appropriate (or both).

Evaluate where specific populations fit into various payer contracts you have in place. Are most covered in traditional fee-for-service agreements, or are many included in ACO or shared savings plans? Consider not only if you can deliver ROI for the patient (lower personal costs, better care) but for the practice as well. Could precision medicine afford you the opportunity to take on more risk, because you can leverage genomics to better identify patients more likely to develop disease, intervene earlier and target therapies more effectively?

Use the analysis generated by steps one and two to negotiate aggressively with payers. Determine which populations you believe you can impact with precision medicine and work towards contracts that increase your revenue for effectively managing the patient population while reducing payer costs.

Educate physicians and medical staff about precision medicine and about your strategy to integrate it as the standard of care for specific patient populations. Ensure they understand the clinical value, as well as the business value, that genomics can deliver. In addition, develop educational materials for your patients, to help them understand how they can benefit from precision medicine and what to expect from their caregiver.

Begin your precision medicine program with the patients who were identified in step one as those where the greatest benefit can be realized. Integrate genomics testing with diagnostic and therapeutic care incrementally, so you can realize success before expanding into other patient groups.

Take the time to evaluate and assess technologies and solutions that can bring genomics data directly into the EHR workflow, allowing providers to use it in real-time clinical decision-making (e.g., should I prescribe antidepressant A or antidepressant B?). Typically, genomics results are reported on paper or scanned PDFs that cannot be clinically integrated within the patient context. And, all too often, test results have not been translated into clinical vocabulary that is meaningful and actionable for providers. New platforms are emerging that bridge the gap between the science of genomics and making the data useful at the point of care.

Industry thought leaders agree that genomics holds great potential to transform healthcare – from prevention to diagnosis to treatment. Patients are often ahead of their providers in understanding how genomics can help them stay healthier – and in highly competitive healthcare markets, providers cannot afford to be late adopters. By thinking strategically and equipping providers with critical support tools, practices can leverage the promise of precision medicine to improve current clinical practice – and begin to reap the benefits of better care and outcomes.

Can precision medicine combat burnout?

I have been contemplating the concept of “empowerment” recently-a term bandied about as an antidote to physician burnout. I’ve found that, much like the timeless adage about weather, lots of people are talking about it…but no one is actually doing anything about it.

With one major exception: A growing number of organizations are adopting tools to bring the advances of genomic science into the physicians’ workflow.

Providers fortunate enough to have access to this information tell me it makes practicing medicine fun again and helps them feel more “doctor-y.”

That sounds like a compelling cure for burnout to me.

How are genetics and genomics empowering? Briefly put, insights from molecular testing:

• give providers a focused view of individual patients’ heritable risk factors,

• facilitate highly accurate diagnoses,

• reveal how well the patient may or may not metabolize specific medications, and

• identify targeted therapies to deliver the safest, most effective results.

Knowledge is power

Precision medicine is a game changer for physicians-in large part because it gives them much more information to leverage when making critical care decisions. That’s key because, as we’ve all been told, knowledge is power.”

Here are several examples:

Consider 30-year-old Sara, who reports a significant familial history of breast, ovarian and colon cancer. Sara’s physician can order a molecular lab test to determine whether she exhibits genetic variations elevating her risk for one, any, or all of these diseases. If so, the physician and a genetics counselor can begin appropriate and aggressive screening and prevention. If not, Sara’s physician can alleviate her anxiety-and avoid putting her through early and frequent diagnostic studies (which also increase the lifetime cost of keeping her healthy).

Dr. Green, a psychiatrist, has treated Kevin for 14 months for depression. Green has tried several therapies, escalating dosages of each when Kevin didn’t respond. Finally, Green orders a pharmacogenomics panel to gain insight into which medications Kevin metabolizes well and which might cause undesirable side effects. With test results in hand, Green quickly can understand why previous drugs were ineffective and prescribe therapy that has a nearly immediate positive impact. Imagine how many months of frustration, office visits and trips to the pharmacy were wasted when pharmacogenomics testing could have enabled Green to arrive at the best drug and dosage as the first line of therapy?

Likewise, consider 4-year-old Carlos, who develops a seizure disorder. A genomics test helps the specialist precisely diagnose the cause and immediately begin the appropriate therapy. This prevents or greatly reduces ongoing seizure activity, developmental complications and undesirable side effects from trial-and-error treatments.

It also reduces the likelihood of costly hospitalizations and readmissions. These tests, if integrated within the clinical record, represent valuable information all of Carlos’s clinicians will need to consider as they make future diagnostic and therapeutic decisions.

Remove barriers to point-of-care genomics

It’s clear why this knowledge represents power in the physician’s hands. And therein lies the challenge: making sure it lands in their hands. It’s critical to ensure this vital information is readily and conveniently available to clinicians within their workflow.

Genetic and genomic testing is already being done in many healthcare organizations; some even have established their own molecular labs. Unfortunately, results are not saved as discrete data, nor are they integrated with the wider clinical record. To factor these insights into their clinical decision making, providers must:

• be aware that molecular tests have been ordered, received and saved (typically as a PDF) somewhere in the organization’s IT ecosystem

• understand how and where to find the results

• exit their workflow and open a lengthy scanned document (often dozens of pages)

• sort through the full lab report (typically not translated into familiar clinical terminology)

• synch what they are reading in the report with other information contained in the medical record

• decide how relevant the information is and add it to other considerations

• For precision medicine to be truly empowering, healthcare organizations must overcome barriers to making the data meaningful to providers as they go about the day-to-day practice of medicine.

• When embarking upon their precision medicine strategy, organizations need to consider the following:

• Who within their organization is already ordering genomic tests and from which labs?

• How are test results being received and stored within the organization’s IT system?

• Is the data easily available to all other clinicians across the enterprise? (Pharmacogenomic tests ordered by a psychiatrist, for example, are also valuable to a PCP, cardiologist, oncologist and others. Likewise, germline information about heritable disease risk and targeted therapies spans specialties.)

• Will providers-some of whom have had minimal training in genetics and genomics-be able to understand and make use of test results? How can they achieve a specified level of proficiency?

• As the volume of genetic and genomic data grows-as it surely will-how will the organization manage it?

• How will individual providers be able to keep up with the rapidly advancing field of genomic science and bring new discoveries to bear with previously diagnosed patients and as new conditions manifest?

Precision medicine is rapidly becoming recognized as the new standard of care. The potential for improving quality and safety of care-as well as patient loyalty-is tremendous. And because it empowers providers with new information and robust clinical decision support, it promises to enhance satisfaction as well.

Financial implications for practices

Limiting the risks of ‘Failure to Treat’ and marginally effective treatments

Today, most physicians practice trial-and-error medicine. They evaluate symptoms, arrive at a diagnosis and proceed with the most likely or common treatment.

A prime example occurs in patients diagnosed with anxiety or depression. How often do we select an antidepressant, try it for a few weeks with little effect, increase the dose for another few weeks and, if that fails to produce the desired outcome, start the process all over again? Relief for the patient could take months, during which time resources are being consumed in the form of prescription costs, office visits and wasted time.

But a pharmacogenomics test can cost as little as $200, and the results can be made available within the clinical workflow. Those results could equip physicians with the information required to select the best medication for the individual patient, the first time around.

Using innovative or costly therapies wisely

Determining the best treatment for patients is tricky, but insight into genomic markers enables physicians to know when a novel therapy might be the best choice. Consider evolocumab (Repatha). It is costly but highly effective for patients with familial hypercholesteremia (FH), a genetic condition that drives up LDL cholesterol levels regardless of lifestyle. If patients undergo genomic testing to identify whether they carry this variant, practices could stratify their population to determine risk. Physicians could then appropriately prescribe evolocumab without wasting time on other treatments or prior authorization because they have scientific proof the drug is appropriate.

Finding greater success with ACOs and other risk-sharing models

The formula for value-based success aligns with the objectives of precision medicine: treating patients effectively, faster and without unnecessary cost. Genomic testing arms physicians with an unprecedented level of insight into a patient’s condition so they can determine the best individualized care plan - and sooner.

Let’s look at the patient with high LDL. Without genomic testing revealing the genetic variant for FH, physicians would follow a standard course of treatment: prescribing a statin. When the first medication does not work, physicians would work their way down the list of typical drugs. Costs mount, outcomes remain poor and the practice fails to meet quality measures for treatment of high cholesterol. A simple genomic test, on the other hand, would allow physicians to easily diagnose FH and deliver successful care sooner.

What the lack of knowledge can cost

Precision medicine and genomics are complex disciplines, and front-line physicians may understandably struggle with the learning curve. Which patients should we refer for genomic testing or counseling? And, of the vast array of genomic tests (carrying vastly different price tags) available through a plethora of molecular labs, which are the best tests to order for the patient sitting in the exam room?

Education and training are, of course, important components to helping physicians become comfortable with these new and exciting approaches to care. It is equally vital that practices seek point-of-care tools to guide physicians. Key considerations include the ability to gather a highly detailed family history (e.g., pedigree) (beyond the limited aspects offered by EHRs) to help them identify possible heritable risk in individual patients.

In addition, practices need to make genomic insights easily available within the workflow, integrated with the clinical record and presented in a way that is meaningful to physicians.

Consumer-driven demand

Last but not least, practices must consider consumer demand. The general population is acutely aware of the potential of genomic information. Many patients are already trying direct-to-consumer (DTC) tests and challenging their physicians to incorporate those results into care plans. Practices must respond quickly to retain patients and remain competitive.

Practice leaders must likewise figure out how to handle the downstream effects of genomic demand: Patients might request additional tests, both necessary and unnecessary, based on their self test results. So it would be wise for practices to implement new policies and procedures to handle DTC tests and address the consumer movement.

Many variables factor into the financial implications of precision medicine and genomics. The ROI picture is not clear yet, although all indications point toward positive impacts on quality of care, patient satisfaction and the bottom line.

Our progress is not much different than when previous modalities were introduced. For example, no one questioned the value of MRI tests when they were introduced, but it still it took time to build a genuine ROI argument. Healthcare will be well served by taking the same approach with precision medicine.

Financial implications for practices

Precision medicine is still in its early stages, but it already has the power to disrupt your practice. Here are five considerations for when and how to add genomics and precision medicine.

When healthcare leaders talk about the financial implications of care models like precision medicine, their thoughts often focus on the return on investment (ROI). How much will it cost to take this case to the precision medicine level? What are the potential downsides? What could it add to our bottom line?

Physicians who adopt precision medicine early should note: It’s often difficult to prove the ROI of new modalities immediately. Early adopters must consider the broader financial implications and factor qualitative value into the overall equation, especially as precision medicine evolves. Most physicians recognize the inherent benefits of diagnosing and treating patients more precisely, but it will take time to generate the necessary body of data to demonstrate the positive return for adding precision medicine to the mix.

Joel Diamond, MD, FAAFP is an adjunct associate professor of biomedical informatics at the University of Pittsburgh and chief medical officer for 2bPrecise, a business segment of Allscripts  that helps providers leverage the value of genomic data at the point of care.