Pharmacogenomic (PGx) testing involves analyzing variants of genes associated with drug metabolism, transport and medication targets. PGx testing uses an individual's genetic factors, such as single nucleotide polymorphisms (SNPs), to personalize therapy or dose a selection of medications. PGx testing has traditionally been used to test single genes, but there are now platforms allowing a panel of genes to be tested at once. To date there has not been a comprehensive screening of pediatric oncology patients to determine the prevalence of genetic variants that may affect anticancer therapy and supportive care medications. This study would allow us to summarize the frequency of clinically relevant gene-drug interactions and actionable genetic polymorphisms in pediatric oncology patients.
This is a prospective, non-treatment, interventional single-arm study evaluating PGx results and modifications made to anticancer therapy and supportive medication administration based on PGx results in participants ≤ 26 years old with a newly diagnosed malignancy or bone marrow transplant candidate with non-malignant diagnosis who has not yet undergone myeloablative conditioning regimen. Potential candidates will be presented with consent. Patients who agree will undergo the informed consent process, and participants who consent will be screened for eligibility. Those meeting eligibility criteria will be enrolled and undergo buccal swab collection. The buccal swab will be collected and sent for PGx testing at time of enrollment. A copy of the test results in PDF (Portable Document Format) format and PGx consultation note will be uploaded to the participant's electronic medical record (EMR) and will be available to the participant via the MyAtrium Patient Portal and treating oncologist in the EMR. Results will also be reviewed by the pediatric oncology pharmacists. Apart from the availability and use of PGx test results to guide pharmacotherapy, participants will receive standard of care treatment as recommended by their primary oncologist. During study participation, dose modifications made to anticancer therapy and supportive care medications based on PGx results will be collected every three months. Participants are enrolled voluntarily after informed consent/assent and will not be reimbursed for study participation. Participants will receive PGx testing at no cost.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
SUPPORTIVE_CARE
Masking
NONE
Enrollment
130
Pharmacogenomic testing will be completed by the vendor. The vendor is certified under CLIA-88 and accredited by the College of American Pathologists as qualified to perform high-complexity testing. Genomic DNA extracted from the swab will be analyzed by PCR using Thermo Fisher TaqMan® and/or LGC Biosearch BHQ® probe-based methods to interrogate the variant locations listed in (See Appendix II). Twenty-seven genes are evaluated and reported.
Levine Childrens Hospital Pediatric Cancer and Blood Disorders
Charlotte, North Carolina, United States
Gene-drug interaction
A gene-drug interaction occurs when an individual carrying a variant form of a gene is administered a drug that serves as a substrate for the enzyme or transporter encoded by that gene. Clinically relevant gene-drug interactions are defined in the CPIC (Clinical Pharmacogenetics Implementation Consortium) guidelines or the FDA Table of Pharmacogenomic Associations. Gene-drug interaction is a binary variable (interaction present or interaction absent). Each clinically relevant gene-drug interaction from the pharmacogenomic testing will be reported.
Time frame: 3, 6, 9, 12 months after enrollment
Genotype
Genes involved in toxicity and efficacy of pediatric anticancer therapy and supportive care medications, as listed in CPIC or FDA Table of Pharmacogenomic Association guidelines, are tested for genetic polymorphisms using the OneOme RightMed Comprehensive Test. Each gene's genotype is classified as a binary variable (actionable or not actionable).
Time frame: Baseline
Anticancer treatment modification based on PGx test result
Anticancer treatment modification includes modifications in medication, dosage, or treatment frequency. Anti-cancer therapy treatment modification is a binary variable (yes or no), where 'yes' indicates that at least one type of modification occurred.
Time frame: 3, 6, 9, 12 months after enrollment
Modification in supportive medication based on PGx test result
Modification in supportive medication includes modifications in medication, dosage, treatment frequency, or adding new medication. Modification in supportive medication is a binary variable (yes or no), with 'yes' indicates at least one type of modification occurred.
Time frame: 3, 6, 9, 12 months after enrollment
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