Abstract
Background: The introduction of pharmacogenomics in clinical practice is a paradigm shift towards personalized medicine, which allows the use of individualized therapeutic approaches in accordance with respective genetic profiles. Though a lot of progress has been made in the area of oncology, especially in ovarian cancer, the use of pharmacogenomic principles of autoimmune diseases like thyroiditis has not been fully explored.
Purpose: The purpose of the review is to provide a synthesis of existing evidence on pharmacogenomic biomarkers and their clinical use in thyroiditis and ovarian cancer, to explore common mechanism pathways, and to establish the gaps in research that need to be addressed by scholars in the future.
Findings: In ovarian cancer, sound pharmacogenomic data and clinical utility on the use of BRCA1/BRCA2 and homologous recombination deficiency (HRD) testing to select a PARP inhibitor has been reported, with further prognostic potential of ADME gene variants (ABCB1, ABCC2, ABCG2, UGT1A cluster) and multi-gene expression signature. Pharmacogenomics enables clinicians to customize the treatment plan, decrease the adverse effects, and improve patient outcomes by determining the genetic factors of drug metabolism, efficacy and toxicity.
Conclusions: Although ovarian cancer pharmacogenomics has reached clinical maturity and actionable biomarkers allow selecting the treatment, thyroiditis needs specific genomic and pharmacokinetic investigations to develop evidence-based personalized treatment programs. To achieve the full potential of pharmacogenomics in both conditions, future studies ought to focus on functional classification of variants, multi-omic integration, population-based validation and implementation science.