Implementation Resources for Professionals

Clinical Pharmacogenomics at St. Jude

PG4KDS Publications

• Haidar CE, et al. Advancing Pharmacogenomics from Single-Gene to Preemptive Testing. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:449-473. PMID:35537468.
• Haidar CE, et al. Preemptively Precise: Returning and Updating Pharmacogenetic Test Results to Realize the Benefits of Preemptive Testing. Clin Pharmacol Ther. 2019;106(5):942-944. PMID: 31520409
• Hoshitsuki K, et al. Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination.Genet Med. 2020;22(1):232-233. PMID: 31341243
• Hicks JK, et al. Integrating pharmacogenomics into electronic health records with clinical decision support. Am J Health Syst Pharm. 2016;73(23):1967-1976. PMID: 27864204
• Yang W, et al. Comparison of genomic sequencing and clinical genotyping for pharmacogenes. Clin Pharmacol Ther. 2016;100(4):380-388. PMID: 27311679
• Gammal RS, et al. Pharmacogenetics for safe codeine use in sickle cell disease. Pediatrics. 2016;138(1):e20153479 [Epub ahead of print]. PMID: 27335380
• Dunnenberger HM, et al. Preemptive Clinical Pharmacogenetics Implementation: Current Programs in Five United States Medical Centers. Ann Rev Pharmacol Toxicol 2015;55:89-106. PMID: 25292429
• Hoffman JM, et al. PG4KDS: A model for the clinical implementation of pre-emptive pharmacogenetics. Am J Med Genet C Semin Med Genet. 2014;166C(1):45-55. PMID: 24619595
• Bell GC, et al. Development and use of active clinical decision support for preemptive pharmacogenomics. J Am Med Inform Assoc. 2014;21(e1):e93-99 PMID: 23978487
• Hicks JK, et al. A Clinician-Driven Automated System for Integration of Pharmacogenetic Interpretations Into an Electronic Medical Record. Clin Pharmacol Ther. 2012;92(5):563-6. PMID: 22990750
• Crews KR, et al. Pharmacogenomics and individualized medicine: Translating science into practice. Clin Pharmacol Ther. 2012;92(4):467-75. PMID: 22948889
• Fernandez CA, et al. Concordance of DMET Plus genotypes with orthogonal genotyping methods. Clin Pharmacol Ther. 2012 Sep;92(3):360-5. PMID: 22871999
• Crews KR, et al. Development and implementation of a pharmacist-managed clinical pharmacogenetics service. Am J Health-Syst Pharm. 2011;68:143-50. PMID: 21200062

PG4KDS Presentations

Implementation of pre-emptive genotyping in the USA: Paediatric experience by Mary Relling at the UK Pharmacogenetics & Stratified Medicine Network Joint Workshop with NHS England & Genomics England, February 2018

Issues for Clinical Implementation of Pharmacogenomic Testing. Panel discussion moderated by Mary Relling at the 2015 PGRN-ASHG Symposium.

The Clinical Pharmacogenetics Implementation Consortium (CPIC): enabling the adoption of pharmacogenetics into the EHR slide deck of the webinar by James M. Hoffman for the Clinical Decision Support KnowledgeBase (CDSKB), a joint project between the eMERGE and IGNITE networks.

Clinical Pharmacogenetics Implementation Consortium (CPIC™) by Mary V. Relling at the Pharmacogenomics Research Network (PGRN) 2016.

Clinical Implementation of Pharmacogenetics by Mary V. Relling at the University of Maryland 

Integration of Pharmacogenetics into Clinical Practice by Mary V. Relling at the Cleveland Clinic

Institutional Leadership Perspective on Implementing Genomic Medicine Programs by William E. Evans at the National Human Genome Research Institute (link on NHGRI has audio too)

Beyond the Hype-Developing, Implementing and Sharing Pharmacogenomic Clinical Decision Support by James M. Hoffman at the American Medical Informatics Association Annual Symposium

Select Pharmacogenomics Posters

Spill the Genes! Frequency of high-risk phenotypes and pharmacogenomically actionable medication use in pediatric patients with cancer. By: Kayla Thibodaux, et al. Presented at the HOPA Annual Conference 2024.

Sulfamethoxazole-Trimethoprim Prophylaxis in Pediatric Oncology Patients with Glucose-6-phosphate Dehydrogenase Deficiency. By: Rachael Stone, et al. Presented at the HOPA Annual Conference 2023.

Patient and Family Perceptions of Pharmacogenomic Testing at St. Jude Children’s Research Hospital. By: Rachael Stone, et al. Presented at the 2022 ASHP Midyear Clinical Meeting.

Pharmacogenomics Videos

Implementing pharmacogenomics in paediatrics by Mary V. Relling at the UK Pharmacogenetics & Stratified Medicine Network 2019 Open Meeting

Collecting and Curating the Evidence for Pharmacogenetic Implementation: CPIC by Mary V. Relling at the 2018 PGRN-ASHG Symposium

Implementation of Preemptive Clinical Pharmacogenetics by Mary V. Relling at the Mayo Clinic Center for Individualized Medicine (Look for 2013, Day 2: Tuesday, October 1 presentations and click on Mary V. Relling)

Institutional Leadership Perspective on Implementing Genomic Medicine Programs by William E. Evans at the National Human Genome Research Institute

Putting Pharmacogenomics into Practice: Successful Implementation in Pediatrics by Kristine Crews at Cincinnati Children’s Hospital

Pharmacogenetics and Individualized Therapy by Kristine Crews at St. Jude Children’s Research Hospital (free sign in access required)

Pharmacogenomic Competencies

Introduction to pharmacogenetics competency

Cytochrome P450 2C19 (CYP2C19) competency

Cytochrome P450 2D6 (CYP2D6) competency

Glucose-6-phosphate dehydrogenase deficiency

Mitochondrial RNR1 (mt-RNR1) competency

SLCO1B1 Pharmacogenetic competency

Thiopurine S-Methyltransferase (TPMT) competency

Dihydropyrimidine Dehydrogenase (DPYD) Competency

Uridine Diphosphate Glucuronyltransferase 1A1 (UGT1A1) competency

Residency Training in Pharmacogenomics

St. Jude offers an ASHP accredited PGY-2 residency in pharmacogenomics. Read more about the residency program and the AJHP article describing the residency program.

Other Resources

The Clinical Pharmacogenetics Implementation Consortium (CPIC) and CPIC Guidelines

• CPIC guidelines are designed to help clinicians understand HOW available genetic test results should be used to optimize drug therapy, rather than WHETHER tests should be ordered.
  
• A key assumption underlying the CPIC guidelines is that clinical high-throughput and pre-emptive (pre-prescription) genotyping will become more widespread, and that clinicians will be faced with having patients' genotypes available even if they have not explicitly ordered a test with a specific drug in mind.
• Each guideline is published in Clinical Pharmacology and Therapeutics and on https://CPICpgx.org/
• Click here for all accepted and published CPIC guidelines
• Listen to a podcast on the Clinical Pharmacogenetics Implementation Consortium (dated 03/25/14)

PharmGKB and the PGRN

• The Pharmacogenomics Knowledge Base (PharmGKB): http://www.pharmgkb.org/
• The Pharmacogenomics Research Network (PGRN): http://www.pgrn.org/

If you have specific questions about implementation of clinical pharmacogenomics, you can contact the pharmacogenomics team at: pharmacogenomics@stjude.org