Building the case for genetic testing: A strategic imperative for value-based care and precision medicine

Health systems are under increasing pressure to improve outcomes, accelerate diagnoses, guide more precise treatments and reduce costs—all while advancing value-based care models. Leaders are being asked to do more with less, requiring pragmatic, scalable strategies that strengthen both clinical performance and operational efficiency.  

One of the most effective yet underutilized levers to meet this mandate is systematic, broad access to genetic testing. By integrating genetic insights into clinical workflows, health systems can deliver higher-quality, more cost-effective care and drive value-based initiatives across their networks.  

Properly designed programs turn genetic insights into clinical action, helping prevent disease, enhance care delivery across the system and align resources to the highest value care pathways across hospitals and clinics.  

The untapped potential of genetic testing 

Genetic testing provides actionable insights, enabling providers to facilitate earlier diagnosis and guide more personalized treatments at every stage, from prevention and early detection to precise treatment selection and disease management. By helping reduce unnecessary procedures, avoid misdiagnoses and optimize care pathways, genetic testing can improve patient outcomes while supporting more efficient and cost-effective healthcare delivery. 

When embedded into clinical pathways, these insights can drive measurable improvements in quality, efficiency, and the patient and provider experience—core tenets of value-based care. Genetic insights are foundational to personalized oncology, cardiology, neurology, pediatrics and primary care. 

Despite the availability of thousands of genetic tests, their integration into routine clinical practice remains limited, representing a significant missed opportunity for health systems to improve outcomes and control costs. Consider: 

• Only 6.8% of U.S. cancer patients receive recommended hereditary genetic testing within two years of diagnosis
• Less than 2% of cardiomyopathy patients undergo genetic testing, despite clinical guidelines recommending it
• Yet 1 in 5 tested cardiomyopathy patients have actionable results that can inform prognosis or guide treatment 

This gap represents not just a missed clinical opportunity but an oversight that can leave health systems behind as precision medicine becomes the standard of care. For leaders setting strategic direction, the question is how to build a compelling clinical and business case for expanding genetic testing access while advancing value-based care initiatives. 

Making the clinical case: Genetic testing as a cornerstone of value-based care 

1. Disease prevention and earlier detection in oncology 

Setting a strong clinical genetic testing strategy helps the right patients find the right test the first time. In oncology, genetic testing can identify patients at increased risk for hereditary conditions, guiding medical decisions that can prevent disease onset, enable earlier diagnosis, predict responses to specific therapies and improve treatment success while reducing toxicity from ineffective treatments. 

Moving genetic screening from “request-driven” to standardized testing pathways for each cancer type improves consistency and equity, strengthens tumor boards and supports population health management at scale. Genetic testing allows providers to implement enhanced screening protocols, preventive surgeries and other proactive measures that can detect cancers earlier when they’re most treatable. 

For instance, universal or expanded germline testing can find inherited gene changes that strongly affect cancer risk, inform updated treatment plans and unlock cascade testing for family members who may also benefit from screening. In a prospective multicenter study, 13.3% of cancer patients carried pathogenic germline variants and 6.4% held incremental, clinically actionable findings missed by guideline-directed criteria—enabling treatment modifications and risk-reducing strategies.  

A recent study also found universal genetic testing for breast cancer patients detects substantially more hereditary cancer cases compared to conventional family history-based screening. Health systems can drive better prevention and earlier diagnosis by expanding access to genetic testing—improving outcomes while reducing downstream treatment costs. 

Hereditary cancer identification also triggers evidence-based interventions (enhanced screening, risk-reducing procedures, targeted therapeutics) that generate downstream encounters. A high-volume clinic analysis reported $73 million in downstream revenue across 978 hereditary cancer patients with pathogenic variants in the multigene panel era.  

Earlier work found $32.8 million in revenue was generated over ten years after identification of hereditary breast and ovarian cancer/Lynch syndrome carriers, with $1.49–$1.86 million generated per fulltime genetic counselor per year—driven particularly by unaffected and new-to-system patients.  

2. Reduce unnecessary diagnostics and hospitalizations for rare disease patients   

In the United States, approximately 25-30 million people live with a rare disease, accounting for nearly one in nine Americans. Half of these patients are children and a staggering 72% of rare diseases have an underlying genetic cause. 

Patients with rare diseases often face long diagnostic odysseys, with delayed and multiple misdiagnoses, repeat testing and invasive procedures increasing both patient burden and healthcare costs. Earlier genetic testing can streamline rare disease care, reduce repetitive tests, avoid misdiagnosis and lower total costs. However, testing rates currently remain low despite clinical guidelines.  

This is particularly impactful in complex cases where traditional diagnostic approaches may fall short. In pediatric epilepsy of unknown etiology, early multigene panel testing was associated with fewer metabolic testshttps://europepmc.org/article/MED/38071479 (0% vs. 80%), fewer invasive procedures (0% vs. 25%) and reduced estimated overall healthcare costs compared to late testing.  

At a system level, a multi-disease health economics study estimated avoidable costs from delayed diagnosis at $86,000–$517,000 per patient, underscoring the financial impact of earlier, accurate diagnoses. Accelerating testing—especially where newborn screening or first-line sequencing is feasible—reduces unnecessary services and improves outcomes.  

By integrating genetic testing earlier in the diagnostic pathway, health systems can streamline the journey, reduce unnecessary tests and procedures and help provide timely, precise interventions. 

3. Optimize treatment through precision medicine 

Broadly, genetic insights allow providers to optimize treatment plans based on an individual's molecular profile. Across therapeutic areas, pharmacogenomic testing can guide medication selection and dosing based on how a patient's genetics influence drug metabolism and response.  

Providers can maximize efficacy, optimize resources and minimize adverse events by aligning drug regimens with an individual's genetic makeup—reducing complications and associated healthcare utilization. This approach aligns perfectly with the goals of value-based care, as it reduces ineffective treatments and improves overall treatment efficacy. 

Advancing the Quadruple Aim through genetic testing 

Expanding genetic testing access supports all four pillars of the Quadruple Aim of healthcare: 

1. Improving patient experience. Personalized care plans based on genetic insights can enhance care quality as faster diagnoses, targeted therapies and proactive risk management improve patient outcomes and satisfaction. Families impacted by genetic conditions gain answers, access to genetic counseling resources and opportunities for cascade testing of at-risk relatives. Faster time to diagnosis reduces patient dissatisfaction and clinician frustration while increasing operational efficiency.  

2. Enhancing population health. Genetic testing assists with proactive identification of at-risk individuals, supporting targeted interventions to improve community health. Cascade testing, registries and enhanced screenings extend prevention into families and communities, detecting diseases when they’re most treatable. 

3. Reducing costs. By avoiding unnecessary procedures, optimizing treatment selection and enabling earlier interventions, genetic testing contributes to overall cost reduction in healthcare delivery. Genetic testing generates additional savings by helping prevent disease, reduce unnecessary procedures and hospitalizations, and optimize treatment plans since earlier interventions based on genetic risk can be more cost-effective than treating advanced disease. And for rare diseases, genetic diagnosis can shorten the diagnostic odyssey—avoiding wasteful spending on repeated, non-diagnostic tests. 

4. Improving provider well-being. Access to genetic insights can empower providers. With more precise diagnostic and treatment tools, decision fatigue decreases and job satisfaction increases. Genetic testing helps support clinical decision-making while strengthening patient relationships and care quality by helping providers develop personalized, precise treatment plans aligned with the latest clinical evidence. Clear workflows and clinical decision support (CDS) can also reduce cognitive load and administrative friction, giving providers more confidence in decisions. 

A practical framework for expanding genetic testing for C-suite leaders 

1. Define the clinical scope and sequencing strategy 

Prioritize service lines where genetic testing affects care pathways and costs the most. This includes:  

• Hereditary oncology (universal or expanded testing)
• Inherited cardiovascular disease (standardized panels)
• Pediatric neurology (first-line panels in unexplained epilepsy)
• Select rare diseases 

Build service maps and testing criteria in these areas to increase equitable access and consistent ordering. It’s also important to establish well-defined, standardized protocols for identifying eligible patients, ordering appropriate tests, interpreting results and integrating findings into care plans.  

2. Build multidisciplinary workflows and staffing models 

Centralize oversight, standardize consent and ordering, and provide virtual counseling for spoke sites to conserve genetic counselor capacity. Embed indication-based orders, auto-populate family history prompts and integrate result-driven care plans like risk-reducing surgery pathways and cascade testing referrals.  

3. Integrate data into EHRs and clinical decision support to automate care navigation 

High-performing programs reduce administrative burden and improve provider adoption by integrating results into the EHR and surfacing CDS at the point of care, ensuring ordering and interpretation are consistent and scalable for nonspecialist clinicians. This resource allocation and workforce optimization in action helps make the most of limited genetic counselors and specialists by designing workflows that distribute tasks, automating them when possible and standardizing decisions. 

Integrating genetic testing into existing clinical workflows is essential for scalability and sustainability. This includes optimizing care team roles, such as expanding genetic counselor responsibilities and automating administrative tasks through EHR integration and other digital capabilities.  

Multidisciplinary teams should collaborate to develop evidence-based CDS integrated into the EHR and order entry process. This integration makes sure genetic insights are readily available at the point of care, supporting informed decision-making and personalized treatment plans.  

Integrate lab feeds, discrete variant data and automated alerts and reminders to schedule high-risk screenings. Track relatives and at-risk cohorts, enabling proactive outreach and population health strategies.  

4. Partner with specialty labs and research institutions 

Enable access to validated, clinically actionable testing by collaborating with high-quality genetic testing laboratories and academic centers. These partnerships can also provide opportunities for cutting-edge research and clinical trials while leveraging external expertise in test interpretation and genetic counseling—further positioning your health system as a leader in precision medicine.  

5. Leverage population health management 

Use genetic insights to inform population health strategies, identifying at-risk individuals for targeted interventions and preventive care. This proactive approach aligns with value-based care principles and can lead to significant long-term cost savings. 

6. Develop a genetic counseling strategy 

Address the shortage of genetic counselors by implementing innovative service delivery models, such as telehealth consultations or group counseling sessions. This approach can help scale genetic counseling services across your health system so your patients receive appropriate support and education. 

7. Educate providers and patients 

Invest in ongoing education for providers to increase their comfort with ordering and interpreting genetic tests. Simultaneously, develop patient education materials to improve understanding of genetic testing benefits and limitations, fostering informed decision-making. 

8. Establish ROI and value dashboards 

Implement robust tracking mechanisms to measure the impact of genetic testing programs. Focus on key metrics such as: 

• Number of hospitalizations and emergency department visits
• Any improved diagnostic efficiencies (time to diagnosis, any reduction in unnecessary tests)
• Tracked cost trends associated with optimized treatment selection
• Patient satisfaction levels and reported improvements in quality of life 

Link clinical key performance indicators to financial metrics across specialties. This can include but not be limited to: 

• Oncology. Track time to treatment modification from germline result, downstream services utilization and reduction in late-stage admissions
• Cardiology. Monitor the percentage of newly diagnosed cardiomyopathy patients tested, actionable variants and guideline-concordant management changes
• Rare disease/pediatrics. Analyze diagnostic interval reduction, test utilization, avoided procedures, duplicate testing and estimated cost avoidance per case  

By quantifying these outcomes, you can demonstrate the value of genetic testing to both internal stakeholders and external payers. 

Positioning yourself as leaders in precision medicine 

Expanding access to genetic testing is not a luxury—it's a disciplined strategy to improve outcomes, accelerate diagnosis, guide therapy and optimize operations. As our understanding of the human genome expands and genetic testing becomes increasingly accessible, health systems have an opportunity to differentiate themselves as leaders in precision medicine.  

Those successfully integrating genetic insights into routine clinical care will reduce delays, avoid unnecessary costs and grow mission-aligned revenue—strengthening value-based care initiatives. They’ll also be well-positioned to deliver higher-value care tailored to each patient's unique molecular profile.