@inproceedings{cb7d2f6935994afe8e1d1973727b5736,
title = "Unveiling Pharmacogenomic Patterns in Breast Cancer Through Big Data",
abstract = "Pharmacogenomics (PGx) is pivotal in personalized medicine, particularly in cancer care, where drug efficacy and toxicity often vary with genetic variability. This study investigates the prevalence of CYP2D6-related medications and phenotypes in a cohort of 5,576 female breast cancer patients using genomic and electronic health record (EHR) data from the NIH's All of Us Research Program. A total of 77\% of patients were prescribed at least one CYP2D6 metabolized drug. A customized pipeline was developed to determine CYP2D6 genotypes and phenotypes, identifying actionable phenotypes in 12.5\% of patients. The prevalence of CYP2D6-associated drugs, including Tamoxifen, ondansetron, and tramadol, were widely prescribed and increased significantly following cancer diagnosis. Approximately 25\% of phenotyped patients exhibited non-normal metabolizer types, emphasizing the importance of pharmacogenomic considerations in clinical decision-making. These findings emphasize the potential of incorporating PGx guidelines into routine clinical practice to optimize breast cancer treatment and improve patient outcomes.",
keywords = "Breast Cancer, CYP2D6, Pharmacogenomics (PGx), Tamoxifen",
author = "Huiyi Yang and Joseph Finkelstein",
note = "Publisher Copyright: {\textcopyright} 2025 The Authors.; 20th World Congress on Medical and Health Informatics, MEDINFO 2025 ; Conference date: 09-08-2025 Through 13-08-2025",
year = "2025",
month = aug,
day = "7",
doi = "10.3233/SHTI251005",
language = "English (US)",
series = "Studies in Health Technology and Informatics",
publisher = "IOS Press BV",
pages = "1079--1083",
editor = "Househ, \{Mowafa S.\} and Househ, \{Mowafa S.\} and Tariq, \{Zain Ul Abideen\} and Mahmood Al-Zubaidi and Uzair Shah and Elaine Huesing",
booktitle = "MEDINFO 2025 - Healthcare Smart x Medicine Deep",
}