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Published on: April 11, 2016
Integration of Germline Pharmacogenetics Into a Tumor Sequencing Program
Daniel L Hertz1, Andrew Glatz1, Amy L Pasternak1
1Daniel L. Hertz, Andrew Glatz, Amy L. Pasternak, and Erika Mora, University of Michigan College of Pharmacy; Robert J. Lonigro, Pankaj Vats, Yi-Mi Wu, Bailey Anderson, Erica Rabban, Kevin Frank, Dan R. Robinson, Rajen J. Mody, and Arul Chinnaiyan, Michigan Medicine, Ann Arbor, MI.
Integrating pharmacogenetics into cancer sequencing programs offers valuable clinical insights. Germline genetic testing for TPMT, DPYD, and CYP2C19 can guide treatment decisions, enhancing patient care at no extra genotyping cost.
Area of Science:
- Oncology
- Pharmacogenetics
- Genomics
Background:
- Germline genetic information aids precision medicine in cancer treatment.
- Real-time tumor sequencing programs generate matched germline DNA, creating opportunities for pharmacogenetic implementation.
Purpose of the Study:
- To assess the feasibility and clinical utility of integrating pharmacogenetic testing into an existing oncology sequencing program (MI-Oncoseq).
- To determine if germline genetic information for actionable polymorphisms can guide treatment recommendations for cancer patients.
Main Methods:
- Retrospective analysis of germline DNA from 115 MI-Oncoseq patients for 21 pharmacogenetic polymorphisms in TPMT, DPYD, CYP2C19, CYP3A5, and UGT1A1.
- Confirmatory genotyping by an external CLIA-approved laboratory.
- Review of medical records to identify patients who received relevant medications and assess the impact of genetic information on treatment recommendations.
Main Results:
- External genotyping confirmed variants in TPMT, DPYD, and CYP2C19.
- Actionable phenotypes for TPMT, DPYD, or CYP2C19 were identified in 4.3% of patients who received relevant medications.
- Three patients could have benefited from a treatment recommendation based on their germline genetic information at the time of prescription.
Conclusions:
- Germline genotyping for TPMT, DPYD, and CYP2C19 provides actionable insights for treatment decisions in MI-Oncoseq patients.
- Integrating pharmacogenetics into tumor sequencing programs adds value to patient care without additional genotyping costs.
- Challenges in implementation complexity and cost for pharmacogenetics persist.
