The field of pharmacogenomics (PGx) is rapidly evolving, and with it, the need for high-quality, clinically actionable PGx reporting. As laboratories navigate this evolving landscape, it is essential to consider key factors that can significantly impact the utility and effectiveness of PGx reports for healthcare providers and their patients.
Risk is not binary: Assess risk bi-directionally
Many PGx reports assess medication risk in a linear way, typically focusing solely on the risk of adverse drug reactions. However, a more comprehensive approach involves assessing risk bi-directionally. This means considering both the risk of side effects and the risk of treatment ineffectiveness (non-efficacy).
By understanding both sides of the risk equation, healthcare providers can make more informed prescribing decisions that optimize treatment outcomes while minimizing potential harm. For example, a patient with a genetic variant that makes them a slow metabolizer of a particular drug may be at an increased risk of side effects if given a standard dose. However, the same variant may also make another drug less effective at a standard dose.
A bi-directional risk assessment allows providers to fully understand the assessment of the medication, in order to consider alternative medications or adjust dosages to achieve the desired therapeutic effect while mitigating potential adverse events.
Transparency in scientific statements
Transparency and scientific integrity are paramount in PGx reporting. Laboratories should ensure that all clinical guidance statements are supported by well-researched evidence and clearly cited references. This allows healthcare providers to understand the strength of the evidence behind the recommendations and make informed decisions based on the latest scientific findings.
Additionally, reports should also indicate the level of evidence supporting each statement. Some gene-drug pairs have extensive research and a clear established guideline, while others have emerging evidence. While it is important to include the gene-drug pairs with emerging evidence to provide healthcare professionals with the most information possible, it is crucial to communicate the level of evidence associated with these statements. This could involve using a standardized scoring system or providing a qualitative description of the research supporting the recommendation.
By prioritizing transparency and scientific rigor, laboratories can build trust with healthcare providers and ensure that PGx reports are perceived as valuable tools for clinical decision-making.
Consider PGx insights within the context of the patient’s medication regimen
A patient's PGx profile is just one piece of the medication management puzzle. To provide truly personalized care, it is crucial to consider PGx insights within the context of the patient’s complete medication regimen, including:
Drug-drug interactions: Some medications can interact with each other, leading to altered drug levels and potentially increasing the risk of side effects or reduced efficacy.
Duplicate therapy: Patients may be prescribed multiple medications that have similar or overlapping therapeutic effects, leading to unnecessary polypharmacy and potential risks.
Base drug risk: Certain medications carry inherent risks, regardless of a patient's PGx profile. It is important to consider these risks when making prescribing decisions.
Comorbidities: A patient's underlying health conditions can also influence medication response and should be factored into the decision-making process.
Lifestyle and demographic factors: Factors such as age, weight, diet, and smoking status can also affect drug metabolism and should be considered.
PGx reports that integrate these factors alongside genetic information to provide a holistic view of the patient's medication regimen provide the highest level of clinical utility. If these insights are not provided within the PGx report, it is important to make the information easily accessible and available to upload into clinical decision support (CDS) systems.Â
Information is displayed simply and easy to comprehend
PGx reports can be complex and contain a significant amount of information. It is crucial that this information is displayed in a clear, concise, and easy-to-understand manner for healthcare providers who may not be experts in pharmacogenomics.
Using visual aids, such as graphs or color-coded charts, can help to highlight key findings and make the report more intuitive. A well-designed layout with clear headings and concise language can further enhance readability.
Reports should also include a glossary of terms, icons and definitions to help providers understand any unfamiliar terminology.
Ongoing, easy access to the patient’s results
The field of pharmacogenomics is constantly evolving, with new research emerging regularly. This means that a patient’s PGx report may need to be updated over time to ensure optimal, personalized care based on the latest scientific knowledge and their changing health circumstances.
Laboratories should consider providing healthcare providers with ongoing, easy access to their patients' PGx results through a secure online portal or web application. This would allow providers to:
View and download updated reports as needed.
"Audition" new medications in real time to assess potential drug-gene and drug-drug interactions.
Generate updated reports that reflect changes in the patient's medication regimen.
Access the latest clinical guidance and reference information.
Providing ongoing access to patient results empowers healthcare providers to make informed prescribing decisions throughout the course of their patients' care.
Set up your laboratory for PGx reporting success
Laboratories play a crucial role in providing healthcare providers with the tools and information they need to effectively implement pharmacogenomics into clinical practice. By carefully considering the key reporting factors discussed, laboratories can ensure that their PGx reports are valuable, actionable, and contribute to improved patient care.