PharmGKB and CPIC support H.R. 3235 (updated 1/27/20)

PharmGKB and CPIC have signed up as supporters of H.R. 3235, the ‘Access to Genetic Counselor Services Act’. This bill would improve access to genetic counseling for Medicare beneficiaries by recognizing genetic counselors as independent healthcare providers who can be reimbursed for their services.

Dr. Teri Klein, co-PI of PharmGKB and CPIC, said: “Genetic counselors are vital in bringing pharmacogenomics to the clinic and helping patients to understand how their genetics can affect how they respond to drugs. By supporting H.R. 3235, we hope that many more patients will be able to access these services and receive expert advice about their genetic conditions”.

More information about H.R. 3235 can be found on the Congress.gov website.

Update 1/24/20 Comment from Dr. Teri Klein, co-PI of PharmGKB and CPIC: "For further clarification, genetic counselors are vital in bringing genomic medicine to the clinic of which pharmacogenomics is an important component."

Update 1/27/20 Comment from Julie Johnson, PharmD, Dean and Distinguished Professor, University of Florida College of Pharmacy; Founding Director, UF Health Precision Medicine Program and CPIC Steering Committee member: "I fully support qualified health professionals, who are important members of the healthcare team, being recognized with provider status.  Two key groups that are seeking such status are genetic counselors and pharmacists.   Genetic counselors are important team members for delivering genetic/genomic medicine and it is appropriate that they should be considered for provider status.  However, I believe that PharmGKB and CPIC’s initial quote about the vital role of genetic counselors in pharmacogenetics is overstated.  Based on my nearly decade-long experience leading the clinical use of pharmacogenetics data in our health system, it has become clear that the pharmaco- part of pharmacogenetics is what makes it difficult.  Genetic data often tell us that a drug or dose is not right for a given patient, but a program is ineffective if it stops there.  Guidance must also be provided on the alternative drug or dose that is right for that patient, and this requires expert knowledge in pharmacology, pharmacokinetics and pharmacotherapy.  It is the rare genetic counselor that would be an expert in these things.  Rather the members of the healthcare team best equipped for being “vital in bringing pharmacogenomics to the clinic and helping patients to understand how their genetics can affect how they respond to drugs” are pharmacists and those physicians who possess solid foundational knowledge in clinical pharmacology.  This is not to diminish the important role of genetic counselors in patient care, but rather to say that the basis for them receiving provider status cannot be the role they play in clinical pharmacogenetics.  If the focus is a highly effective healthcare team, then the members of the team must be included based on their expertise.  In the case of clinical pharmacogenetics, those experts are most likely to be pharmacists and some physicians."

PharmGKB papers in the February 2020 issue of Pharmacogenetics and Genomics

The February 2020 issue of Pharmacogenetics and Genomics has a PharmGKB double feature, with the publication of our sertraline pathway and our VIP summary for CACNA1S.

The sertraline pharmacokinetic pathway, written by Scientific Curator Dr. Rachel Huddart and collaborators, is featured on the cover of the journal. Sertraline is a selective serotonin reuptake inhibitor (SSRI), which is used in the treatment of some psychiatric disorders, such as major depressive disorder. Metabolism of sertraline in the liver by CYP2C19 forms the basis of clinical guidelines from CPIC and the DPWG.

CACNA1S is a subunit of the dihydropyridine receptor and is expressed in skeletal muscle, where it plays a role in muscle contraction. Variants in CACNA1S have been linked to a number of myopathies as well as malignant hyperthermia, which can occur in some patients when exposed to inhaled anesthetics. The recent CPIC guideline forinhaled anesthetics includes recommendations based on CACNA1S variants. Our VIP summary, written by Senior Scientific Curator Dr. Katrin Sangkuhl with Dr.Robert Dirksen of the University of Rochester and former PharmGKB curator Maria Alvarellos, outlines the role of CACNA1S in both normal muscle function and in disease genetics. Key variants which have been associated with malignant hyperthermia are discussed in detail.

Both the sertraline pathway and CACNA1S VIP summary can be accessed on the PharmGKB website.

CPIC launches second Term Standardization project – seeking PGx experts

CPIC leadership has put out a call for gene experts to participate in the second CPIC Term Standardization project, which will begin in early 2020.

This project continues the work of the first term standardization effort in 2016, where standardized terms for pharmacogenetic (PGx) allele function and associated phenotypes were developed and agreed upon by a Delphi process (see Caudle et al. 2017 for further details). The work of the previous project was adopted by many external groups and has helped build consensus between different PGx testing platforms, PGx implementation processes and scientific publications.

The second Term Standardization project will use the same Delphi process to find drug-agnostic allele function and phenotype terms that can be used by pharmacogenes not included in the 2016 work, including VKORC1, RYR1, mt-RNR1 and others. As with the first term standardization project, iterative surveys will be used to find consensus among the group. It is expected that 2-4 rounds of surveys will be needed to achieve consensus. As with the 2016 project, the resulting standardized terms will be published in a peer-reviewed journal and used in future CPIC guidelines.

If you meet the criteria below and would like to join this expert panel, please take this survey (5-10 minutes) to be included in the project. Further information can also be found at the CPIC website.

• Clinician with a working knowledge of pharmacogenetics (pharmacists, physicians, nurses, genetic counselors, etc).

• Researcher with at least 2 years of PGx research experience

• Clinical laboratory scientist or staff with at least 2 years of PGx experience

• EHR standards expert/medical informatic (PGx experience not required but involvement in HL7 or similar experience preferred)

• Gene specific experts and/or CPIC or DPWG guideline author for the following genes to be included in this project: RYR1, CACNA1S, CFTR, G6PD, IFNL3, mt-RNR1, GBA, NAGS, HPRT1, POLG, COMT, OPRM1, SCN1A, SLC6A4, F5, ABL2, ASL, ASS1, CPS1, and OTC