Article
Biochemistry & Molecular Biology
Maria Laura Idda, Magdalena Zoledziewska, Silvana Anna Maria Urru, Gregory McInnes, Alice Bilotta, Viola Nuvoli, Valeria Lodde, Sandro Orru, David Schlessinger, Francesco Cucca, Matteo Floris
Summary: Pharmacogenetics aims to identify the genetic factors that determine individual differences in drug response. This study investigated the pharmacogenetic variation in a sample set of Sardinians and found a high likelihood of atypical responses to multiple drugs in this population. Additionally, Sardinians showed a higher number of pharmacogenetic variants compared to other European populations, which may contribute to interpopulation variability in drug response phenotypes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Chemistry, Medicinal
Tracy Sandritter, Rachel Chevalier, Rebecca Abt, Valentina Shakhnovich
Summary: Gastroenterologists have been early adopters of precision medicine through pharmacogenetic testing, specifically genotyping for TPMT before prescribing 6-mercaptopurine or azathioprine. While pharmacogenetic testing for drug dose individualization has become more available, interpreting results for drugs other than 6-mercaptopurine and azathioprine remains challenging, limiting widespread implementation of genotype-guided dosing.
Article
Pharmacology & Pharmacy
Blandine De La Gastine, Soizic Percevault, Laurent Varin, Nicolas Richard, Fabienne Fobe, Benoit Plaud, Georges Daccache, Vincent Compere, Jean-Jacques Parienti, Antoine Coquerel, Magalie Loilier, Nathalie Bleyzac, Laurent Bourguignon, Sylvain Goutelle, Veronique Lelong-Boulouard
Summary: This study investigated the relationship between tramadol and CYP2D6 phenotype and found that tramadol is not suitable as a probe drug for CYP2D6 phenotyping.
Article
Pharmacology & Pharmacy
Aimee Salas-Hernandez, Macarena Galleguillos, Matias Carrasco, Andres Lopez-Cortes, Maria Ana Redal, Dora Fonseca-Mendoza, Patricia Esperon, Farith Gonzalez-Martinez, Ismael Lares-Asseff, Alberto Lazarowski, Veronica Loera-Castaneda, Diadelis Remirez, Matias F. Martinez, Rodrigo Vargas, Fabricio Rios-Santos, Antonio Macho, Juan P. Cayun, German R. Perez, Carolina Gutierrez, Leslie C. Cerpa, Tamara Leiva, Susan Calfunao, Lesly Xajil, Christopher Sandoval, Marcelo Suarez, Ariana Gonzalez, Gabriela Echeverria-Garces, Luis Sullon-Dextre, Eugenia Cordero-Garcia, Alexis R. Morales, Andrea Avendano, Enrique Sanchez, Laura C. Bastone, Cesar Lara, Patricia Zuluaga-Arias, Ana Maria Soler, Julio Da Luz, Gabriela Burgueno-Rodriguez, Marcelo Vital, Elizabeth Reyes-Reyes, Alexander Huaccha, Yeimy V. Ariza, Naomi Tzul, Ana L. Rendon, Roberto Serrano, Larissa Acosta, Angelo Motta-Pardo, Leonardo Beltran-Angarita, Erika Brand, Miguel A. Jimenez, Gladys Maribel Hidalgo-Lozada, Marina M. J. Romero-Prado, Karla Escobar-Castro, Mariel Umana-Rivas, Juan D. Vivas, Paola Lagos, Yineth Ballen Martinez, Sharleth Quesada, Camila Calfio, Maria L. Arias, Maria A. Lavanderos, Dante D. Caceres, Alberto Salazar-Granara, Nelson M. Varela, Luis A. Quinones
Summary: In this study, the authors reviewed pharmacogenomic knowledge and barriers to clinical application in the Latin American and Caribbean region. They found that this region has made limited contributions to the field and the primary barrier to implementation is the lack of guidelines and protocols. However, there have been improvements in the region's understanding and application of pharmacogenomics.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Psychiatry
Beatriz Cantieri Almeida, Emanuella Dutra Goncalves, Maria Helena de Sousa, Maria Jose Martins Duarte Osis, Marilia Jesus Batista de Brito Mota, Aline Cristiane Planello
Summary: Brazilian psychiatrists have some familiarity with PGx but express concerns regarding education, test requests and interpretation, cost-effectiveness, and ethical issues. Age, practice setting, and gender are associated with varying perceptions and competency in PGx. Education and training resources are needed to improve the clinical implementation of PGx in psychiatry.
PSYCHIATRY RESEARCH
(2021)
Review
Pharmacology & Pharmacy
Wan-Chun Chang, Reo Tanoshima, Colin J. D. Ross, Bruce C. Carleton
Summary: The clinical implementation of pharmacogenetic biomarkers is growing as new genetic variants associated with drug outcomes are discovered. Incorporating pharmacogenetic information into healthcare improves drug safety and reduces empiricism in drug selection. However, barriers to the implementation of pharmacogenetic testing remain.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 61, 2021
(2021)
Article
Pharmacology & Pharmacy
Sumudu Rangika Samarasinghe, Wendy Hoy, Sudhir Jadhao, Brendan J. McMorran, Henk-Jan Guchelaar, Shivashankar H. Nagaraj
Summary: This study conducted pharmacogenomic research on nearly 500 individuals from the Tiwi Indigenous population. The findings showed that each individual carries at least one actionable genotype and 77% of them carry at least three clinically actionable genotypes. It was also discovered that the Tiwi population has a higher frequency of impaired CYP2D6 metabolism compared to other global populations, which has implications for the processing of commonly used drugs. The research further revealed important clinical implications for cancer drugs, immunosuppressants, and antivirals used in hepatitis C treatment.
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Pharmacology & Pharmacy
Qihui Shao, Xinyu Mao, Zhixuan Zhou, Cong Huai, Zhiling Li
Summary: At present, most of the studies are mainly limited to CGS and GWAS, and there is still a long way to achieve clinical transformation. DNA methylation could be a new consideration, and ethnic differences and special populations also deserve attention.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Pharmacology & Pharmacy
Danya Kabbani, Reem Akika, Ahmed Wahid, Ann K. Daly, Ingolf Cascorbi, Nathalie Khoueiry Zgheib
Summary: Considerable efforts have been made to implement Pharmacogenomics (PGx) into routine clinical practice. The article proposes an approach for initiating clinical PGx in hospitals, including evaluating available evidence, selecting relevant drugs and gene pairs, deciding on genotyping strategy, interpreting and reporting test results, and involving stakeholders. The article also recommends strategies for further advancing PGx implementation, such as educating healthcare providers and patients, and advocating for test reimbursement. Available PGx resources and implementation programs are also provided.
FRONTIERS IN PHARMACOLOGY
(2023)
Review
Pharmacology & Pharmacy
Abdelbaset A. Elzagallaai, Bruce C. Carleton, Michael J. Rieder
Summary: Cancer is the leading cause of death in American children older than 1 year of age, but advancements in treatment have significantly improved survival rates. However, chemotherapy still has adverse effects on most survivors.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 61, 2021
(2021)
Review
Genetics & Heredity
Austin A. Saugstad, Natasha Petry, Catherine Hajek
Summary: As our understanding of genomics and genetic testing continues to advance, the personalization of medical decision making is progressing simultaneously. By carefully crafting medical care to fit the specific needs of the individual, patients can experience better long-term outcomes, reduced toxicities, and improved healthcare experiences. Studies have revealed diverse relationships between specific genetic variants and available therapies, ranging from well-documented clinical approaches to potential future applications.
FRONTIERS IN GENETICS
(2022)
Article
Chemistry, Multidisciplinary
Junhyeong Yim, Seung Bum Park
Summary: This study elucidates the molecular mechanism of a novel rhenium compound in cancer therapy, which shows a highly selective anticancer effect by inhibiting the chaperone function of HSP60 and activating the mitochondrial unfolded protein response pathway to induce apoptosis.
FRONTIERS IN CHEMISTRY
(2022)
Article
Pharmacology & Pharmacy
Lauren K. Lemke, Benish Alam, Roy Williams, Petr Starostik, Larisa H. Cavallari, Emily J. Cicali, Kristin Wiisanen
Summary: Pharmacogenetics (PGx) has the potential to improve health outcomes, but the cost of testing is a barrier for equitable access. Reimbursement by insurance providers may lessen the financial burden for patients, but the extent to which PGx claims are covered in clinical practice has not been well-characterized in the literature.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Genetics & Heredity
Jacob T. Brown, Erin McGonagle, Randall Seifert, Marilyn Speedie, Pamala A. Jacobson
Summary: This workforce education program aims to provide training on pharmacogenomics (PGx) to pharmacists serving rural and underserved areas in Minnesota. The program includes online courses, recorded presentations, in-person workshops, and attendance at a PGx conference. The majority of participants expected an increase in the use of PGx testing in their organizations in the coming years.
FRONTIERS IN GENETICS
(2023)
Article
Pharmacology & Pharmacy
Chengxian Guo, Biwen Hu, Chengjun Guo, Xiangguang Meng, Yun Kuang, Longjian Huang, Danling Wang, Kangwei Xu, Yanlin Zhao, Guoping Yang, Weimin Cai, Yan Shu
Summary: In China, while some physicians are not aware of the importance of pharmacogenomics (PGx) in drug therapy, the majority of pharmacists and researchers recognize its significance. Most respondents believe that PGx should be effectively implemented in clinical practice, but a lack of sector standards, clinical research, and guidelines are the major hindering factors for PGx clinical application.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Biochemical Research Methods
Aritro Nath, Paul Geeleher, R. Stephanie Huang
BRIEFINGS IN BIOINFORMATICS
(2020)
Article
Biochemical Research Methods
Aritro Nath, Jeremy Chang, R. Stephanie Huang
Article
Oncology
Peter H. O'Donnell, Vassily Trubetskoy, Ashley Nurhussein-Patterson, Julianne P. Hall, Aritro Nath, Dezheng Huo, Gini F. Fleming, James N. Ingle, Vandana G. Abramson, P. K. Morrow, Anna Maria Storniolo, Andres Forero, Catherine Van Poznak, Minetta C. Liu, Jenny C. Chang, Douglas E. Merkel, Jeffrey M. Peppercorn, Hope S. Rugo, E. Claire Dees, Olwen M. Hahn, Philip C. Hoffman, Gary L. Rosner, R. Stephanie Huang, Mark J. Ratain, Nancy Cox, Olufunmilayo Olopade, Antonio C. Wolff, M. Eileen Dolan, Rita Nanda
BREAST CANCER RESEARCH AND TREATMENT
(2020)
Article
Multidisciplinary Sciences
Alexander Ling, R. Stephanie Huang
NATURE COMMUNICATIONS
(2020)
Article
Oncology
Robert F. Gruener, Alexander Ling, Ya-Fang Chang, Gladys Morrison, Paul Geeleher, Geoffrey L. Greene, R. Stephanie Huang
Summary: Integration of in vitro drug screening data and patient tumor molecular information led to the creation of a virtual drug screening pipeline enabling drug discovery with simultaneous biomarker identification for a patient population. Using this pipeline, the study successfully identified a potential compound for triple-negative breast cancer and validated its efficacy in both in vitro and in vivo settings.
Article
Medical Laboratory Technology
Yingbo Huang, Alexander Ling, Siddhika Pareek, R. Stephanie Huang
Summary: Functional studies of lncRNAs in cancer have shown that certain lncRNAs are consistently associated with survival outcomes across multiple cancer types, while others have diverse prognostic roles in different cancer types. In addition, novel associations between lncRNAs and survival outcomes in low-grade glioma were identified, with implications for temozolomide response. Pathway analysis revealed potential mechanisms underlying the prognostic roles of specific lncRNAs in cancer.
TRANSLATIONAL RESEARCH
(2021)
Article
Biochemical Research Methods
Danielle Maeser, Robert F. Gruener, Rong Stephanie Huang
Summary: Cell line drug screening datasets can be used for various drug discovery applications, including correcting drug sensitivity levels, predicting clinical drug response, and associating predictions with clinical features for drug biomarker discovery. These methodologies have been unified and updated into the OncoPredict R package to facilitate tool development and adoption, applicable for drug and biomarker discovery in various in vitro and in vivo contexts.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Pharmacology & Pharmacy
Jeffrey R. Bishop, R. Stephanie Huang, Jacob T. Brown, Pawel Mroz, Steven G. Johnson, Josiah D. Allen, Suzette J. Bielinski, Julie England, Joel F. Farley, David Gregornik, Jyothsna Giri, Christine Kroger, Susie E. Long, Tiana Luczak, Erin J. McGonagle, Sisi Ma, Eric T. Matey, Pinar K. Mandic, Ann M. Moyer, Wayne T. Nicholson, Natasha Petry, Pamala A. Pawloski, Allyson Schlichte, Stephen W. Schondelmeyer, Randall D. Seifert, Marilyn K. Speedie, David Stenehjem, Robert J. Straka, Jason Wachtl, Stephen C. Waring, Brian Van Ness, Heather A. Zierhut, Constantin Aliferis, Susan M. Wolf, Catherine A. McCarty, Pamala A. Jacobson
Summary: Several healthcare organizations in Minnesota have established formal pharmacogenomic clinical programs to enhance drug safety and efficacy. Healthcare professionals and students are receiving strong education in this field, with multiple opportunities available for gaining workforce skills and advanced competency. The state has seen important discoveries in therapeutic areas through laboratory-based and translational pharmacogenomic research.
Article
Biochemistry & Molecular Biology
Adam M. Lee, Asmaa Ferdjallah, Elise Moore, Daniel C. Kim, Aritro Nath, Emily Greengard, R. Stephanie Huang
Summary: Osteosarcoma has a poor prognosis due to chemo-resistance and/or metastases. Increasing evidence shows that long non-coding RNAs (lncRNAs) can play an important role in drug sensitivity and cancer metastasis. ANRIL may serve as a potential biomarker for chemosensitivity and prognosis in osteosarcoma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Meixia Che, Aashi Chaturvedi, Sarah A. Munro, Samuel P. Pitzen, Alex Ling, Weijie Zhang, Josh Mentzer, Sheng-Yu Ku, Loredana Puca, Yanyun Zhu, Andries M. Bergman, Tesa M. Severson, Colleen Forster, Yuzhen Liu, Jacob Hildebrand, Mark Daniel, Ting-You Wang, Luke A. Selth, Theresa Hickey, Amina Zoubeidi, Martin Gleave, Rohan Bareja, Andrea Sboner, Wayne Tilley, Jason S. Carroll, Winston Tan, Manish Kohli, Rendong Yang, Andrew C. Hsieh, Paari Murugan, Wilbert Zwart, Himisha Beltran, R. Stephanie Huang, Scott M. Dehm
Summary: Endocrine therapies for prostate cancer often lead to the reactivation of the androgen receptor, promoting disease progression. This study shows that the transcription factor KLF5 is induced during treatment, promoting cellular migration and the development of a basal epithelial cell phenotype.
NATURE COMMUNICATIONS
(2021)
Article
Biology
Chang Gong, Ziliang Cheng, Yaping Yang, Jun Shen, Yingying Zhu, Li Ling, Wanyi Lin, Zhigang Yu, Zhihua Li, Weige Tan, Chushan Zheng, Wenbo Zheng, Jiajie Zhong, Xiang Zhang, Yunjie Zeng, Qiang Liu, R. Stephanie Huang, Andrzej L. Komorowski, Eddy S. Yang, Francois Bertucci, Francesco Ricci, Armando Orlandi, Gianluca Franceschini, Kazuaki Takabe, Suzanne Klimberg, Naohiro Ishii, Angela Toss, Mona P. Tan, Mathew A. Cherian, Erwei Song
Summary: This study developed a model based on a 10-microRNA risk score that accurately predicts the pathological complete response to neoadjuvant chemotherapy in patients with hormone receptor-positive breast cancer. The model was also validated to be associated with disease-free survival.
SCIENCE CHINA-LIFE SCIENCES
(2022)
Review
Oncology
Yingbo Huang, Hyeong Joo Cho, Barbara E. Stranger, R. Stephanie Huang
Summary: This narrative review summarizes the current knowledge on sex differences in treatment efficacy for targeted therapy and immunotherapy in NSCLC. Women tend to benefit more from first-generation anti-EGFR treatment in targeted therapy, while the existence of sex differences in response to immunotherapy remains controversial.
TRANSLATIONAL LUNG CANCER RESEARCH
(2022)
Article
Multidisciplinary Sciences
Yingbo Huang, Yuting Shan, Weijie Zhang, Adam M. Lee, Feng Li, Barbara E. Stranger, R. Stephanie Huang
Summary: Sex differences in human health have been widely observed, but the underlying mechanisms remain poorly understood. This study focuses on the interaction between drug metabolism enzymes and transporters genes and sex in complex human traits, revealing sex-differentiated genetic effects on gene expression, serum biomarkers, and drug metabolism. The findings shed light on the causes of sex differences in disease prevalence and treatment outcomes.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Robert T. Galvin, Sampreeti Jena, Danielle Maeser, Robert Gruener, R. Stephanie Huang
Summary: This study aims to uncover the common mechanisms of immune suppression in pediatric brain tumors. By analyzing patient-derived molecular data, we identified immune clusters that correlate with tumor types, patient outcomes, immune cell content, and immunosuppressive gene expression. We also identified immunosuppressive genes that contribute to worse outcomes and demonstrated how targeted therapeutic approaches can overcome immunologic resistance in the central nervous system. Understanding these mechanisms can guide the development of immunotherapies for pediatric brain tumors.
Article
Oncology
Aritro Nath, R. Stephanie Huang
MOLECULAR & CELLULAR ONCOLOGY
(2020)
