Diagnostics Are Making Personalized Care a Reality

Bill Kerr, M.D., MBA

The shift toward personalized care will require healthcare to think small.

Providers generally choose treatments and procedures based on the evidence of what works best for most patients. This method is usually efficient and effective, but some patients don’t fit the typical pattern and need different treatments. Sadly, these outliers often go unnoticed until the standard approach fails and new options are needed.

Although that broad approach will remain the default in most cases, providers are gaining the ability to diagnose and treat some serious diseases, such as cancer, on a much smaller scale, including at the level of individual patients.

New diagnostics, including lab tests and imaging, are revolutionizing medicine and creating exciting opportunities for detection, diagnosis, and treatment. Diagnostics are vital to this progress because they enable precision medicine, so care is pinpointed to the individual patient.

The shift toward personalized care is accelerating. An annual report on lab testing in the U.S. shows increased use of genetic testing in clinical care, especially for fetal and child health, as well as oncological and hematological diseases. Specifically, spending on genetic testing and its utilization each rose by 10% in 2024 compared with 2023. There are over 175,000 genetic tests available, with about 10 being added each day. This growth is mainly driven by increased awareness and acceptance of genetic testing and personalized medicine among patients, providers and health plans.

The report also analyzed the growing use of biomarker testing, identifying three types of tests expected to be among the most common and that could greatly enhance care. They are:

The multicancer early detection test (MCED), a supplement to current screening tests, is a liquid biopsy that analyzes blood samples for markers of early-stage cancer, including DNA, RNA, and proteins from abnormal cells. It can detect over 50 types of cancer from a single sample. Although still in testing and not yet widely available, MCED tests could revolutionize cancer care.

Polygenic risk score (PRS) is a test that evaluates an individual’s genetic predisposition for common diseases by combining the effects of thousands of genetic variants. It improves risk assessment, aids in personalized prevention strategies and enhances long-term health outcomes.

Alzheimer’s disease tests involve several blood tests that assess amyloid levels. Alongside new therapies for treating Alzheimer’s, these tests offer hope for effective management of this devastating disease.

Medicine is also discovering biomarkers for other disease categories, including the central nervous system, reproductive health and inflammatory diseases.

However, challenges exist for the broad use of genetic testing and precision treatments, including:

• Underuse of genetic and biomarker testing, where patients do not receive the proper test due to provider uncertainty about its appropriateness.
• Mismatch in therapy selection occurs when patients receive targeted treatments without the necessary genetic tests to support their use or when patients are prescribed therapies that do not follow guidelines.
• Systemic barriers like turnaround times for tissue versus liquid biopsies, delays in prior authorization and variations in guideline adoption.

Personalized medicine and value-based care

The growth of personalized medicine is fueling the move toward value-based care.

They both signify a move toward a more patient-focused and efficient healthcare system. Unlike the traditional fee-for-service model, value-based care rewards providers based on positive patient outcomes and overall health rather than the number of services provided. This supports personalized medicine’s focus on treatments tailored to patients’ characteristics and the shared goal of achieving better outcomes and reducing unnecessary costs.

Personalized medicine can be beneficial within a value-based care system. Finding the most effective treatments for each patient can help providers achieve better outcomes and lower costs. Specifically, it can help by:

• Detecting disease and at-risk individuals early to enable preventative measures or early intervention to delay or prevent disease.
• Identifying effective targeted treatments saves time and money by avoiding ineffective options.
• Improving chronic disease management by tailoring strategies for chronic conditions leads to better outcomes and reduced healthcare resource use.

Bright future, big challenges

The growing use of newer and more precise diagnostics could revolutionize medicine by enabling providers to detect diseases earlier and develop more effective treatments.

If the history of past medical breakthroughs is any indication, we can expect precision medicine and personalized care to be adopted gradually and unevenly. As patient demand increases, inevitable conflicts will arise, including disagreements over prior authorization, costs, and treatment justification.

Although achieving fair and effective use presents many challenges for providers, health plans, and policymakers, these challenges can and should be addressed by a dual commitment to grounding policy in science and prioritizing what is best for patients.

Bill Kerr, M.D., MBA, is CEO of Avalon Healthcare Solutions.