A Buyer’s Guide to Pharmacogenomics

What is pharmacogenomics?

Pharmacogenomics, also called precision prescribing or referred to with the shorthand PGx, is the ability to use a network of knowledge to treat an individual patient by analyzing genetic information in combination with social, environmental and lifestyle factors. Digital pharmacogenomic solutions provide clinicians–most commonly in primary care, cardiology, behavioral health or oncology service lines–with targeted genomic testing and automated clinical decision support that analyzes all relevant data to deliver optimized drug and dosage recommendations. With medication regimens tailored to their drug metabolism and other health variables, patients are more likely to receive safe and effective medications the first time while avoiding drug failure or adverse reactions. 

Pharmacogenomics is a core component of precision medicine–the development of targeted therapies for individuals or sub-groups of patients based on their genetics, lifestyle, and environment.

When pharmacogenomic testing and precision prescribing is incorporated into direct patient care, a patient’s care journey may look like this: 

  1. The patient seeks care from a primary care physician, specialist, emergency department or urgent care. 

  2. The provider screens patients for relevant health conditions and assesses risk for adverse events (such as cardiovascular events or suicide risk). 

  3. The patient undergoes routine labs and a pharmacogenetic saliva or blood test. 

  4. A decision support platform analyzes test results and other relevant data to help the physician identify an appropriate care plan. 

  5. The patient receives a highly personalized care plan for their health condition.

“All health systems will need to navigate a future that includes far more precision medicine than is currently used in practice. Health systems that invest the time and resources now to create a roadmap that aligns with their existing strategies will be far better positioned to manage the necessary investments and harvest the opportunities that precision medicine will create in the future.”

Amberly Diets, Director, Care Transformation & AVIA Precision Medicine Expert

Differentiating pharmacogenomic solutions

Pharmacogenomics companies may offer services and software that stretch across the care journey or focus on one or more specific components, such as:  

  • Screening: Blood or saliva tests that predict patient response to specific drugs, or comprehensive panels that assess several genes and provide data for many medications. 

  • Clinical decision support: EHR-integrated software solutions that assist physicians with screening recommendations and analyze screening results and patient health data to support precision dosing. 

  • Population health assessment: Solutions that analyze population-level data to identify medication-related risks and refine treatment recommendations for individuals. 

  • Medication therapy management: Solutions that help pharmacists and other providers more effectively tailor medication regimens to prevent adverse events.

The case for pharmacogenomics in clinical medicine

Hyper-personalized drug and dosage recommendations. Pharmacogenomic decision support tools provide tailored medication recommendations for a number of major drug classes based on diagnosis, genetic profile, and other relevant patient health data. Patients are more likely to receive the correct medication and dosage–which translates into therapeutic benefit–earlier in their care journeys. 

Improved patient safety. Adverse events related to medications is a leading cause of mortality in the United States, and multiple studies have uncovered genetic components of drug toxicity and side effects. Pharmacogenomic solutions analyze genetic information to predict the likelihood of adverse events and provide recommendations for safer alternatives or more appropriate dosing. 

Lower costs and improved productivity. Pharmacogenomics, and precision medicine more broadly, make it easier for providers and health systems to avoid unnecessary treatments and related costs. Workforce efficiency may also improve as patients receive personalized long-term care plans that require fewer visits for routine and follow-up care. 

Better patient satisfaction and competitive advantage. When physicians can speak with greater certainty about the safety and effectiveness of medications, patients feel more confident about their treatment plans, which is positively correlated with improved medication adherence. Moreover, as demand and public knowledge regarding precision medicine continue to grow, healthcare consumers will increasingly expect their providers to utilize genomic testing to inform care recommendations.

What leading pharmacogenomic testing and precision dosing solutions offer

Transparent and affordable test pricing

Pricing for pharmacogenomic testing, including tests for specific medications, drug classes, or comprehensive panels, should have transparent and attainable pricing for patients who must pay out of pocket. 

Flexible results reporting

Leading PGx testing solutions allow providers and patients to choose their preferred reporting option for screening results, including PDFs and discrete data that can be pushed to the EHR with minimal or no manual data entry. 

EHR and workflow integration

Pharmacogenomic solutions should integrate with the EHR and patient engagement tools, have the ability to access relevant patient and population health data, and mesh with existing prescribing workflows. 

Personalized analytics

Precision dosing solutions should continuously update drug and dosage recommendations to reflect changes in a patient’s health condition. Actionable data insights should accompany all guidance to support more effective clinical decision-making.

How pharmacogenomic solutions can improve outcomes

For patients with a variety of complex long-term health challenges, such as cancer or certain chronic illnesses, pharmacogenomic testing and precision prescribing can be used to more easily identify effective therapies and predict treatment response. Currently, about 300 FDA-approved medications provide PGx information in their drug labeling, but more drugs with an increasing number of clinical applications are on the horizon–about 42 percent of drugs in the development pipeline include biomarkers in their design. 

In oncology, where pharmacogenomics is already in widest use, clinicians use diagnostic tests to select targeted therapies for patients' specific tumor types, identify patients at higher risk for drug toxicity, and more accurately predict patient prognosis. Patients who receive the correct targeted therapy right away are more likely to achieve maximum therapeutic benefit, with improved overall survival and progression-free survival over chemotherapy.

Organizing for pharmacogenomics success in your health system

What health systems should do before adopting pharmacogenomic testing and prescribing solutions: 

  • Consider their organization’s strategic goals and how they align with the possibilities and potential value drivers for precision dosing.

  • Assess current precision dosing and pharmacogenetic testing activities to identify stakeholders, areas of common need, and duplicated efforts. 

  • Identify opportunities and assess potential use cases across the organization. 

  • Determine whether the health system will require additional digital capabilities or partners to effectively deploy and scale a pharmacogenomics solution. 

  • Work with physicians and other key stakeholders to ensure that short and long-term priorities and goals are aligned. 

  • Develop business cases to determine the primary value that a precision dosing solution would create across affected service lines.

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