genotypedriven

Genotype-driven describes an approach in medicine and research in which genetic information about an individual or their tumor is used to guide decisions, risk assessment, or study design.

In clinical practice, genotype-driven strategies are a core component of pharmacogenomics, aiming to tailor drug choice and dosing to a patient's genetic profile to improve efficacy and reduce toxicity. Examples include CYP2C9 and VKORC1 variants used to estimate warfarin dose, HLA alleles linked to drug hypersensitivity (such as HLA-B*57:01 with abacavir), and HLA-B*15:02 associated with carbamazepine-induced reactions in certain populations. In oncology, genotype-driven decisions rely on tumor or germline mutations to select targeted therapies, such as EGFR mutations guiding EGFR inhibitors in non-small cell lung cancer or BRAF mutations guiding BRAF inhibitors in melanoma.

In research and clinical trials, genotype-driven designs stratify or enrich participants by genetic biomarkers to improve study power and relevance, with adaptive approaches that tailor interventions to genotypic subgroups.

Challenges include genetic heterogeneity, variable penetrance, polygenic influences, data integration, cost, access, and ethical considerations around privacy and incidental findings. The concept of genotype-driven decision making is central to precision or personalized medicine, reflecting a shift toward using molecular information to optimize prevention, diagnosis, and treatment.