Pharmacogenomics, the study of how genetic variations influence medication response, is one of the most widely used forms of precision medicine.
Understanding a patient’s unique genetic makeup helps physicians select the most effective medications to reduce adverse events and optimize treatment strategies.
Research studies suggest that a high percentage of the general population carry actionable PGx variants, and that pre-emptive PGx genotyping may benefit most individuals, particularly those taking multiple medications. Progressive healthcare providers are increasingly using PGx to help create more informed and personalized treatment plans that improve medication management and patient outcomes.
Yet providers face numerous challenges that are preventing PGx from being more widely adopted:
-Science and tools are advancing rapidly beyond physician cognition, with a substantial number of new molecular diagnostic tests introduced every year
-Genetic test results are extremely complex to understand, involving interactions for up to 200 genetic variations for approximately 45 genes that have actionable data for over 200 commonly prescribed drugs
-The information technology infrastructure needed to support PGx is immature and technical standards are evolving quickly.
In order to address these challenges, below are three key considerations for improving the adoption of PGx.
Ensure PGx reports are evidence-based, generated using a PGx knowledge base founded on rigorous, peer-reviewed scientific evidence
Knowledge generated by genomics is often outside the normal training that physicians receive. When combined with pharmacological and pharmacogenetic information, the result often exceeds the cognitive ability of most clinicians. In addition, continuing research is yielding more insights about the relationship between genetics and medicines every year.
For the highest level of clinical validity and transparency, PGx reports should be based on continually updated guidance and recommendations from leading-edge science; knowledge from curated databases and scientific groups such as the Clinical Pharmacogenetics Implementation Consortium, the Pharmacogenomics Knowledge Base and the Dutch Pharmacogenetics Working Group; and government data from the Federal Drug Administration and the European Medicines Agency.
While knowledge is advancing at a rapid rate, medicine is still an empirical science and the clinically valid information that we have is based upon very specific studies. Use of “black box” algorithms to generate PGx recommendations that cannot be translated by end-users is not acceptable to many clinicians, who demand transparency and the ability to analyze and validate PGx data to ensure credible, reproducible results prior to implementation.
Use visual, decision-ready reports
A visually appealing, user-friendly report is essential for communicating complex genomic information in order to be of practical use to physicians. To help guide decision making, PGx reports should be concise, and highlight treatment implications and actionable results at a glance. Visual aids, including color-coded alerts, are important to help clinicians weigh important treatment trade-offs. Reports should also be customized for the recipient based on clinical context, and tailored to the clinician’s specific medical specialty.
Reports should provide clinicians a complete medication list highlighting when they should consider personalizing dosing or medication selection based on the patient’s genetic test results. It is also helpful to couple this with recommended medication alternatives and dosing guidance. Each report should highlight current patient medications, complete PGx testing results, potentially impacted medications, dosing guidance, drug-gene interaction risks and a patient summary. For complete transparency, PGx reports should reference the primary sources of recommendations whether they be peer review bodies, or drug labels with quality-assessed, systemic reviews of drug safety and efficacy. This information may also be useful for demonstrating clinical utility for reimbursement purposes.
Integrate PGx results into clinical workflow
It is practical to begin a PGx program using current technology and familiar workflows. Reports can be sent to EHRs through a standard HL7 interface and surfaced for review by the ordering physician. Messages can be prioritized based upon the severity of issues found in the test report.
However, to realize the full potential of PGx testing, genomic data needs to be integrated into the prescribing and treatment process, accessible via systems that are part of the existing physician workflow as the patient’s medication list evolves. Integration will require interoperable IT tools that access application programming interfaces that provide genomic insights for use in EHRs or e-prescribing and medication management systems without significant IT investment.
PGx-based APIs developed using the fast healthcare interoperability resources specification, an open-source standard for ensuring interoperability and security for healthcare data exchange, are becoming the IT tools of choice, enabling providers, laboratories, and software developers to accelerate the development of PGx-enhanced applications. APIs facilitate the ability to query existing third party PGx knowledge platforms and seamlessly integrate information on drug-gene interactions when and where it is needed at the point of care, alerting providers to potential adverse interactions.
A PGx-based API can be integrated with an existing IT system to:
-Identify patients who may be candidates for a PGx test when a specific medication such as Plavix or Amiodarone is ordered
-Automatically screen entire patient populations based upon their medication lists to identify patients that are likely to benefit from a PGx test
-Easily order an appropriate PGx test through a networked lab
-Receive ongoing alerts regarding potential gene-drug interactions as new medications are ordered
-Access genetic test results throughout a patient’s lifetime.
With a growing awareness and interest in genetic testing by consumers and patients, the ability to offer commercial PGx testing is also becoming a key market differentiator for many healthcare organizations. Growing public awareness of precision medicine leads patients to seek out clinical organizations that provide progressive services. Packaged PGx testing panels provide an additional revenue stream and opportunity to offer competitive testing services to the community to help guide treatment decisions for life.
About Don Rule
Don founded Translational Software, Inc. to accelerate the use of molecular diagnostics. Previously, he had a 14 year career at Microsoft, holding a variety of roles in providing Internet access to MSN, pioneering virtual private networking products, and integrating instant messaging with voice over IP networks.