The lack of specific guidelines on how to adjust medications based on genetic test results, and the difficulty in translating genetic test results into actionable prescribing decisions for affected drugs are the main reasons for the slow adoption of pharmacogenomic testing in the clinical setting.
The Clinical Pharmacogenetics Implementation Consortium (CPIC), an international consortium dedicated to facilitating the use of pharmacogenomic testing in patient care, has as a goal to address these clinical implementation barriers by creating, curating, and posting freely available, peer-reviewed, evidence-based, updatable, and detailed gene/drug clinical practice guidelines. CPIC guidelines are designed to provide all information needed to interpret a pharmacogenomic test result, from defining haplotypes/alleles (e.g., CYP2D6*1/*5) to translating to a clinical phenotype (e.g., CYP2D6 intermediate metabolizer) and determining how to alter drug prescribing based on the phenotype assignment.
Kelly Caudle, St. Jude Children’s Research Hospital, Co-PI/Director CPIC, and Pharmacogenomics (PGx) Track Chair at PMWC January 24-26, 2024 Silicon Valley: “The lack of standardization in pharmacogenomic testing and reporting leads to issues with interoperability and portability of results, resulting in increased workload and cost for implementation and need for extensive training of clinicians. Furthermore, the lack of standardization can be misleading and confusing to many clinicians, resulting in distrust and misinterpretation of results.”
Even though, the CPIC guidelines and projects have been endorsed by several professional societies, including the Association for Molecular Pathology (AMP), many testing laboratories are not aware of those guidelines. In fact, many different labs are using different reporting guidelines, disconnected from CPIC guidelines which results in discordance. To change this path, work is underway to create Standard Operating Procedures (SOPs) that will help the use of standardized genotype-phenotype relationships in order to create clear recommendations for clinical decision making by healthcare professionals, patients, and other stakeholders.
Kelly Caudle: “Ultimately, clinical practice and patient care would be improved if more efficient exchange of information between laboratories and EHR systems would be allowed. Consistent interpretation of genetic information, efficient clinical training and competencies and consistent reimbursement policies are also needed.”
We urge you to forward this email to any individuals or organizations involved in PGx testing who would benefit from standardizing their genotype-phenotype relationships and implementing the CPIC guidelines for improved patient care.
This important and pertinent precision medicine topic includes the following talks in PMWC 2024 PGx track chaired by Kelly Caudle, St. Jude Children’s Research Hospital (See Developing Program), and with thought leaders in the field:
• PMWC 2024 PGx Award Ceremony:
Pioneer Honoree: Russ Altman, Stanford
Pioneer Honoree: Andrea Gaedigk, University of Kansas
Luminary Honoree: Teri E. Klein, Stanford
• Standardization: Key to Advancing Precision Medicine
Opening Talk: Kelly E. Caudle, St. Jude
• Current and Desired States of Standardization of Clinical Laboratory Processes
Chair: Andrea Gaedigk, University of Kansas
– Vicky Pratt, Agena Bioscience
• FIRESIDE CHAT
Chair: Damon Hostin, Illumina
– Howard McLeod, Intermountain Health
• Current and Desired States of Standardization of Reporting
Chair: Chad Bousman, University of Calgary
– Vicky Pratt, Agena Bioscience
– Lisa Brown
– Susanne Haga, Duke
• Current and Desired States of Standardization of Pharmacogenomic Test Ordering and Reimbursement (PANEL)
Chair: Sara Rogers, American Society of Pharmacovigilance
– Jai Patel, Atrium Health
– Greg Warren, Axene Health Partners
• Current and Desired State of PGx Education
Chair: Phil Empey, University of Pittsburgh
– Teri E. Klein, Stanford
• Current and Desired State of the Patient Experience in Precision Medicine
Chair: Avni Santani, LetsGetChecked
• Clinical Pearls and Outcome Data: Advancing the Adoption of Pharmacogenomics in Clinical Practice
Chair: Kelly E. Caudle, St. Jude
– Larisa H Cavallari, University of Florida
– Jeff Bishop, University of Minnesota
Secure your spot and participate in the discussion about the future of PGx and beyond by registering now for PMWC Silicon Valley, January 24-26, 2024.
Note there are various ticket types available and group discounts.