Frequency of HLA Polymorphisms in a Large Population Related to Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) Development Risk
Background: Specific human leukocyte antigen (HLA) variants are associated with an increased risk of developing SJS/TEN. These risks are higher with certain medications such as carbamazepine, oxcarbazepine, phenytoin, and allopurinol. We found a higher rate of clinically actionable variants than previously reported.
Standardizing Return of Pharmacogenomic Results into EHR Systems
Background: Lack of standardized, high-resolution data transfer from laboratories into EHR systems may impact patient safety, efficiency and PGx utility. Read about our lessons learned and new high-resolution workflow.
The role of personalized therapy in cancer associated depression among 10,673 patients – Presented at ASCO 2024
Background: Utilizing PGx to guide drug selection and dosing for cancer patients with depression may reduce trial/error, time to effective therapy, limit burden, improve QOL.
Frequency of certain germline polymorphisms among ethnicities and adverse drug reaction risk associated with colorectal cancer therapies – Presented at ASCO 2024
Background: Severe and life-threatening toxicities from FPs and irinotecan are associated with common germline polymorphisms in the DPYD and UGT1A1 metabolizer genes.
Clinically actionable dosage recommendations are available from the FDA and CPIC.
The frequencies of DPYD and UGT1A1 risk alleles and phenotypes associated with chemotoxicity are reported here.
Recommendation and genotyping discrepancies in DPYD for oncology patients – Presented at NCCN 2024
Background: There are discrepancies in DPYD testing assays and allelic coverage among CLIA-certified laboratories, and inconsistencies in DPYD phenotype-guided dosage recommendations across clinical guideslines. We highlight challenges clinicians and laboratories face in interpreting DPYD tests due to these discrepancies in allele coverage and guidance.