Precision healthcare: The role of genetic testing and lab data in improving patient outcomes

Today, precision medicine provides a biological approach to treatment that considers a patient's genomic information, as well as environmental, lifestyle and social factors. 

Advancements in genomic testing are fundamentally changing care for cancer and other conditions. These exciting developments, under the umbrella of precision healthcare, are leading to more personalized healthcare delivery that offers competitive advantages to hospitals and health systems embracing this approach. 

These were key themes of an executive session sponsored by Labcorp at Becker's 12th Annual CEO + CFO Roundtable. In this discussion, three Labcorp leaders- Mahul B. Amin, MD, vice president and divisional medical director; Ken Cerney, vice president of commercial operations; and Ed Esplin, MD, PhD, clinical geneticist and medical director- focused on the role of lab data and genetic testing in the journey to precision medicine and personalized healthcare delivery. 

In August 2024, Invitae became part of Labcorp to further the future of genetic testing. With Invitae, Labcorp extends its leadership in specialty testing with the most comprehensive offerings in areas such as oncology and select rare diseases and advances its mission to improve health and improve lives.

Key themes from the executive session are summarized below. 

Precision medicine forms the cornerstone of personalized healthcare

Session panelists explained how, before the human genome was decoded, diseases were treated using a "one-size-fits-all" model. However, sequencing the genome and the ability to do high-throughput testing in clinical samples of different types, in a clinically actionable timeframe and at a reasonable cost, has significantly changed the approach to treatment.

Today, genetic and genomic testing is often the foundation for precision healthcare programs, giving physicians insights to design care plans that are individualized to their patients.

“For precision medicine, there are adoption costs, but there are other costs which steer us toward considering this more deeply,” one of the session participants noted. “We’ve had denials for genetic testing and specialty testing. That is one of the reasons steering us toward adoption. We have a cancer center and genetic testing helps us get in front of disease, instead of behind, so we can catch things through early detection.” 

Although precision medicine has had the greatest impact on cancer, panelists noted it also has deep and widespread applicability for cardiology, neurology, Alzheimer’s disease, epilepsy and more.

Genetic insights can help inform precision medicine decisions, but obstacles persist

Multiple guidelines recommend universal hereditary cancer genetic testing across cancer types to help tailor FDA-approved therapies to a patient’s specific genetic profile. Although these practice guidelines have established the standard of care, panelists shared that only a small percentage of patients who are diagnosed with cancer and recommended for testing actually receive hereditary cancer genetic testing. 

For example, only about 50% of males and 26% of females with breast cancer receive guideline recommended genetic testing. Breast cancer remains the leading cause of cancer-related death among Black and Hispanic women, reflecting a significant health disparity. This disparity is further exacerbated by lower rates of guideline-recommended genetic testing among Asian, Black and Hispanic patients compared with White patients, particularly for cancers like male breast, female breast and ovarian cancer, where testing rates are highest and guidelines have been well-established. 

There are several reasons why this may be happening. First, guidelines can be challenging to implement, since many factors and criteria must be considered, including personal and familial health history. “Fortunately, we are moving toward a more universal approach where simply having a personal diagnosis of ovarian, breast, uterine, colorectal or pancreatic cancer, for example, is all that’s required to get testing,” Dr. Esplin said. “Patients just need an ICD-10 code that says they have cancer.”

In addition to navigating guidelines, physician workflows also need to account for payer policies and processes like prior authorization. “It can be challenging because different payers have different ways of doing things, and a single clinician must navigate multiple payers at the same time,” Dr. Esplin said. “To drive precision medicine at scale, health systems need integrated, digital workflows so it’s easier to implement the standard of care.”

Precision healthcare leads to better patient outcomes and optimized resource allocation

Panelists noted that research shows a genetic-inclusive approach to care leads to better patient outcomes. For example, Invitae recently conducted a study where genetic testing was provided universally to all patients with breast cancer. The surgeons reported that both positive and negative test results were beneficial to patients’ health outcomes, as treatment and care management could be modified appropriately. This was true for approximately 60% of patients with a positive test result and 30% of patients with a negative test result. 

“We’ve seen similar findings with prostate cancer,” Dr. Esplin said. “Physicians indicate that testing positively impacts patient health journeys and outcomes. The same applies to pediatric epilepsy. The vast majority of doctors with epilepsy patients that had a positive test result did something differently — whether that was starting a new medication, stopping a medication that was contraindicated for a particular type of epilepsy or adding a medication.”

Among epilepsy patients who had a positive genetic testing result, >70% saw improved outcomes after their treatment was modified based on their genetic test results, with >60% experiencing reduction or complete elimination of seizures. 

“Precision healthcare is a differentiator,” according to a session attendee. “That’s the real value for our health system. What patient wouldn’t want to go to the health system that’s going to provide them with the most personalized, most individualized treatment? The sky’s the limit here and this is where the world is going.” 

Genetic insights can help prevent cancer and other diseases

To successfully deploy precision healthcare, hospitals and health systems must have the buy-in of clinical, pathology and administrative leaders. However, organizations that are successful in precision healthcare gain an added competitive edge that can translate into long-term stability. 

“Precision healthcare as a market differentiator can expand the number of patients that seek treatment at a health system,” Dr. Amin said. “This also includes those that are potentially missed in the care continuum such as underserved populations.” Invitae has also partnered with Outer Banks Hospital in Nags Head, N.C.  After the American Society of Breast Surgeons published updated guidelines in 2019, Dr. Charles Shelton, a radiation oncologist at the hospital, implemented universal hereditary cancer genetic testing as the new standard of care for every patient with a breast cancer diagnosis. 

“Over five to six years, Outer Banks Hospital has tested around 200 patients using a mainstreamed genetic testing approach,” Dr. Esplin said. “They did this with the support of the Invitae lab, which provides genetic counseling if that’s indicated. Invitae has made it easy for clinicians to navigate pre-test education and provide patients with information needed to make a decision about testing.” He added the testing has made a “remarkable difference” in clinical management, including changes in surgery, radiation, surveillance and clinical-follow up, in almost 70% of patients. 

Precision healthcare is achievable for hospitals and health systems of all sizes. For example, Invitae recently worked with Dr. Jewel Samadder at the Mayo Clinic in Arizona on the INTERCEPT clinical trial where all patients with cancer received universal hereditary cancer genetic testing. Mayo Clinic is now working to implement universal hereditary cancer genetic testing as its standard of care for all patients with cancer across its network. 

Regardless of health system size, precision medicine programs can encourage patients with hereditary predispositions to cancer seek preventative care. This can both improve patient outcomes and provide a new revenue stream for the system. “There’s an enormous opportunity for additional downstream revenue as a result of testing appropriate patients and getting them the clinically indicated and guideline recommended preventive care they need,” said Dr. Esplin.

Panelists noted that preventative care can be considered a win-win-win for patients, hospitals, insurers and the entire healthcare sector. In addition to preventing or diagnosing disease earlier, when it is typically easier and more cost-effective to treat, “we have a unique opportunity to improve the quality of life for patients through targeted therapies with reduced adverse effects, help health systems stay financially afloat, and ultimately reduce the total cost of care over the lifetime of a patient,” said Dr. Amin.

Labcorp enables hospitals and health systems to realize the promise of precision healthcare

When it comes to precision healthcare, hospital and health system leaders must think strategically about their external partners, such as large reference labs. “You likely have a great lab internally that meets the immediate needs of your patients. For the ever-expanding molecular test and technology menu, a strategic partnership with a molecular lab provides you not only the latest tests with the best technology at the right cost, but it also provides access to data that are invaluable to hospitals and health systems for individual patient care and for the population at large,” Dr. Amin said. “In all cases, you have the data and the connection to patients.” 

As a global leader in innovative and comprehensive lab testing, Labcorp has invested in making precision medicine and oncology a central pillar of its work with hospitals and health systems. 

“We offer more than 6,500 clinical lab tests, 400+ of which are genetic tests with more added each year, and serve over 3 million patients a week,” Mr. Cerney said. “With Invitae, Labcorp has extended its leadership in specialty testing to provide genomics-based solutions for every life stage.”

Panelists noted that health systems looking to deepen their precision healthcare programs need to align with strategic partners who understand the challenges and complexities of precision medicine and bring something unique to the relationship. 

Recently, Labcorp conducted a study of 115 lab directors, healthcare executives and pathologists to explore laboratory-related pain points. The resulting report, The Pulse of the Lab Leader, found that hospital leadership teams are grappling with the cost, space and personnel requirements associated with technologically advanced lab instrumentation. 

Labcorp can act as a reference test lab, or it can provide kitted solutions for genomic testing to enable testing onsite at larger organizations and practices. In all cases, Labcorp provides its healthcare partners with the analytics that result from testing.

Through strategic, customized partnership models, Labcorp can truly impact what hospitals and health systems do and change patients’ lives for the better.