Zoe Huestis & Miley Nguyen, PharmD, RPh
–> About 65–75% of breast cancer patients have estrogen receptor-positive (ER+) cancer, and tamoxifen is one of the most common target treatments, having been used for over 40 years (Swen et al., 2020).
–> CYP2D6 is the key liver enzyme responsible for converting tamoxifen into its active form.2 Genetic variants can lower this enzyme’s activity, reducing treatment effectiveness (Reis et al., 2019).
–> Pharmacogenomic testing can help tailor treatment, ensuring patients get the most benefit (Porfírio de Aguiar, 2023).
The Challenge. Tamoxifen’s effectiveness isn’t one-size-fits-all.
–> In women, genetic variations, especially in the CYP2D6 enzyme, can limit the body’s ability to activate tamoxifen, reducing its therapeutic benefits and increasing the risk of cancer recurrence (Reis et al., 2019). Hormonal changes, such as those from menopause therapy or hormone therapy, can further influence how tamoxifen is metabolized (Porfírio de Aguiar, 2023).
–> Certain medications taken alongside tamoxifen can disrupt its metabolism, quietly reducing its potential to work as intended, especially if they interfere with CYP2D6 (Reis et al., 2019).
Benefits & Real-World Applications of PGx
–> PGx testing can identify women with a lower functioning CYP2D6 enzyme that puts them at risk for cancer recurrence (Swen et al., 2020; Reis et al., 2019). Conversely, women with multiple copies of functional CYP2D6 alleles may have elevated drug levels, increasing the likelihood of side effects and potential toxicity (Swen et al., 2020; Reis et al., 2019).
–> Identifying the patient’s CYP2D6 genotype before treatment allows for the identification of the ideal therapeutic option and personalized dosing recommendations based on metabolic capacity (Reis et al., 2019).
Conclusion
Pharmacogenomics is transforming the future of women’s healthcare by addressing long-overlooked gaps in treatment precision and safety.
In conditions like breast cancer, where therapies such as tamoxifen depend on genetic and hormonal factors, PGx allows for truly personalized care. Incorporating PGx into clinical decision-making can enhance treatment outcomes while reducing preventable risks.
Learn more about UGenome’s Personalized Medication Service, ProPEx, or contact UGenome. You can also find case studies for UGenome’s bioinformatics services Metabolite Identification, Bone Metastasis Risk Analysis in Breast Cancer, Survival Analysis with gene signatures in cancer
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