Personalized medicine最新文献

Regional disparities in access to gene therapies in the European Union, the United States, Japan, and China. 欧盟、美国、日本和中国在获得基因治疗方面的地区差异。

Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-06-05 DOI: 10.1080/17410541.2025.2515002

Riya Mohan, Margaux Reckelbus, Pascal Borry

{"title":"Regional disparities in access to gene therapies in the European Union, the United States, Japan, and China.","authors":"Riya Mohan, Margaux Reckelbus, Pascal Borry","doi":"10.1080/17410541.2025.2515002","DOIUrl":"10.1080/17410541.2025.2515002","url":null,"abstract":"Understanding the regional differences in approved gene therapies, clinical trial development, and regulatory frameworks is crucial for ensuring equitable access and addressing justice issues in advanced therapeutics. This review aimed to evaluate the differences between the US, the EU, Japan, and China and offer policy recommendations to promote harmonization between these countries and regions. Gene therapy approvals show significant regional disparities, with the US leading with 23 approved therapies, followed by the EU with 16. Few products are accessible worldwide reflecting challenges in obtaining cross-border approvals. Moreover, access is uneven within regions like the EU, with high-income countries having better accessibility. High costs and complex reimbursement processes exacerbate these issues, with some products being withdrawn from the market due to pricing disputes. Regulatory differences, such as differing data needs, further delay access in countries, like Japan, where gene therapy products are unavailable until years after a product is ready for approval. Clinical trial activity mirrors these disparities, with China's growing number of trials potentially reshaping the landscape. Harmonizing regulations across regions could streamline the approval process for therapies, making them more efficient and reducing disparities. Furthermore, key solutions include incentivizing cost reductions, adopting innovative payment models, and aligning evidence/reimbursement requirements.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"267-273"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Gastric cancer risk and BRCA1/2 mutations: a systematic review and meta-analysis. 胃癌风险和BRCA1/2突变：一项系统回顾和荟萃分析。

Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-07-13 DOI: 10.1080/17410541.2025.2531737

Francisco Cezar Aquino de Moraes, Gustavo Tadeu Freitas Uchôa Matheus, Maria Eduarda Cavalcanti Souza, Rommel Mario Rodriguez Burbano

{"title":"Gastric cancer risk and BRCA1/2 mutations: a systematic review and meta-analysis.","authors":"Francisco Cezar Aquino de Moraes, Gustavo Tadeu Freitas Uchôa Matheus, Maria Eduarda Cavalcanti Souza, Rommel Mario Rodriguez Burbano","doi":"10.1080/17410541.2025.2531737","DOIUrl":"10.1080/17410541.2025.2531737","url":null,"abstract":"Background: Gastric cancer is an aggressive and heterogeneous disease, primarily sporadic, with only 1-3% of cases being hereditary. However, gastric cancer is a component of several hereditary cancer syndromes. The BRCA1 and BRCA2 genes encode key DNA repair proteins involved in homologous recombination. Studies suggest a significantly increased risk of gastric cancer in first-degree relatives of BRCA1/2 mutation carriers.Methods: We systematically searched PubMed, Scopus, and Web of Science for relevant studies. Risk ratios (RRs) with 95% confidence intervals (CIs) were computed using DerSimonian and Laird random-effect models. Heterogeneity was assessed via I2 statistics. Statistical analyses were performed using R (version 4.2.3).Results: Fourteen studies with 160,551 patients were included, of whom 25,934 had BRCA1/2 mutations (BRCA1: 14322; BRCA2: 11612). BRCA1 and BRCA2 mutations were significantly associated with increased gastric cancer risk (RR 2.30; 95% CI: 1.33-3.97; p = 0.003; I2 = 82% and RR 2.45; 95% CI: 1.82-3.28; p < 0.001; I2 = 25%). Among the gastric cancer patients, BRCA1 and BRCA2 mutations were associated with RRs of 3.02 (p = 0.101; I2 = 65%) and 4.86 (p < 0.001; I2 = 0%), respectively.Conclusions: This meta-analysis suggests that BRCA1/2 mutation carriers have a higher risk of developing gastric cancer.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"245-256"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Perceived understanding and psychosocial outcomes: employees' responses to learning results of workplace genetic testing. 感知理解与心理社会结果：员工对职场基因检测学习结果的反应。

Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-06-11 DOI: 10.1080/17410541.2025.2515003

Elizabeth Charnysh, Sarah McCain, Alexandra Truhlar, Subhamoy Pal, Jonathan M Reader, Kunal Sanghavi, Wendy R Uhlmann, Katherine Hendy, Amy Leader, Drew Blasco, Anya E R Prince, William Gregory Feero, Rachael Brandt, Veda N Giri, Charles Lee, J Scott Roberts

{"title":"Perceived understanding and psychosocial outcomes: employees' responses to learning results of workplace genetic testing.","authors":"Elizabeth Charnysh, Sarah McCain, Alexandra Truhlar, Subhamoy Pal, Jonathan M Reader, Kunal Sanghavi, Wendy R Uhlmann, Katherine Hendy, Amy Leader, Drew Blasco, Anya E R Prince, William Gregory Feero, Rachael Brandt, Veda N Giri, Charles Lee, J Scott Roberts","doi":"10.1080/17410541.2025.2515003","DOIUrl":"10.1080/17410541.2025.2515003","url":null,"abstract":"Aims: This study explored employees' understanding of, and psychosocial responses to, workplace genetic testing (wGT) results.Materials & methods: Employees of a US healthcare system who underwent wGT (hereditary cancer/heart disease risk, pharmacogenomics) and received results were surveyed. We ascertained pretest education engagement, test understanding, and psychosocial responses. Regression analyses identified predictors of scores on a modified Feelings About genomiC Test Results questionnaire (positive feelings, negative emotions, and uncertainty after wGT).Results: N = 418 employees (mean age = 44 years; 88.3% female; 80.6% white) completed the survey. Mean scores (out of 12; higher scores indicate a greater extent of each feeling) were 5.2 (SD = 2.9) for positive feelings, 1.2 (SD = 2.2) for negative emotions, and 2.0 (SD = 2.5) for uncertainty. Identifying as non-Hispanic African American/Black and receiving increased risk (cancer/heart disease) wGT results were associated with lower positive feelings and higher negative emotions and uncertainty scores (all p < 0.05). Open-ended responses indicated difficulty interpreting, recalling, and utilizing results.Conclusions: wGT was associated with low levels of measured psychosocial harm among participants. However, results suggested a greater likelihood of negative psychosocial responses among those with increased risk of cancer/heart disease and non-Hispanic African American/Black employees. Future studies should explore strategies to ensure all employees undergoing wGT have educational and psychosocial support.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"211-221"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clarifying a working definition for 'precision communication': a scoping review of medical literature on communication. 澄清“精确通信”的工作定义：对通信医学文献的范围审查。

Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-06-05 DOI: 10.1080/17410541.2025.2515000

Bao-Lam Pham, Brigitte N Durieux, Amanda Bianco, Corinne Cécyre-Chartrand, Elena Guadagno, Amalia M Issa, Dan Poenaru

{"title":"Clarifying a working definition for 'precision communication': a scoping review of medical literature on communication.","authors":"Bao-Lam Pham, Brigitte N Durieux, Amanda Bianco, Corinne Cécyre-Chartrand, Elena Guadagno, Amalia M Issa, Dan Poenaru","doi":"10.1080/17410541.2025.2515000","DOIUrl":"10.1080/17410541.2025.2515000","url":null,"abstract":"Aims: While \"tailored communication\" and \"precision medicine\" have been well-defined in medical literature, the concept of \"precision communication\" in healthcare has yet to be clarified. We sought to review how \"precision communication\" has been used in the medical literature to date and propose a working definition for this term.Materials & methods: We searched seven medical literature databases from inception until 22 May 2024, for articles using terms related to \"precision communication.\" Multiple reviewers screened titles/abstracts and full-texts; an initial pool of full-text articles underwent thematic analysis to clarify relevant themes for inclusion. Data regarding the use of the term \"precision communication\" were manually charted and analyzed descriptively.Results: Of the 7,648 articles identified, 21 full-text articles were included in the final descriptive analysis. These articles highlighted the personalization of tailored communication to patient characteristics, its impact on clinical outcomes, and the recipients of \"precision communication.\" The latter may distinguish \"precision communication\" from similar terms: where \"tailored communication\" was mostly applied to undefined groups, we propose that \"precision communication\" is precise toward specific patient subpopulations, paralleling the use of genomics in precision medicine.Conclusions: From this review, we defined precision communication as \"the personalization of communication to subpopulations.\"","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"257-265"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effect of miRNA gene polymorphisms on prostate cancer susceptibility: a case-control study and an updated meta-analysis. miRNA基因多态性对前列腺癌易感性的影响：一项病例对照研究和最新荟萃分析。

Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-07-12 DOI: 10.1080/17410541.2025.2530924

Sourabh Sharma, Rahul Gupta, Jyotdeep Kour Raina, Shivalika Loona, Tanishq Kour, Parvinder Kumar, Rakesh Kumar Panjaliya

{"title":"Effect of miRNA gene polymorphisms on prostate cancer susceptibility: a case-control study and an updated meta-analysis.","authors":"Sourabh Sharma, Rahul Gupta, Jyotdeep Kour Raina, Shivalika Loona, Tanishq Kour, Parvinder Kumar, Rakesh Kumar Panjaliya","doi":"10.1080/17410541.2025.2530924","DOIUrl":"10.1080/17410541.2025.2530924","url":null,"abstract":"Background: Prostate cancer (CaP) is the most commonly diagnosed malignant tumor and the leading cause of cancer-related deaths among men. Due to their potential functional significance, microRNA genes are considered promising candidates for identifying cancer-related genetic biomarkers. This study investigates the association between microRNA-196a2 (rs11614913), microRNA-146a (rs2910164), and microRNA-149 (rs2292832) and the risk of prostate cancer among males in the Jammu region of Jammu and Kashmir (J&K).Material and methods: A total of 320 male participants were recruited from various areas of the Jammu region, including 120 confirmed cases and 200 unrelated healthy controls. Genotyping was performed using PCR-RFLP, and the results were validated through Sanger sequencing. Additionally, a meta-analysis was also conducted to validate the results.Results: Our study found a significant association between microRNA-196a2 and the risk of developing prostate cancer (CaP) in our population, with an odds ratio (OR) of 1.62 and a p-value of 0.05. In contrast, we observed no significant associations for microRNA-146 (rs2910164) and microRNA-149 (rs2292832). Additionally, a meta-analysis of microRNA-146a also confirmed its lack of association with prostate cancer.Conclusion: MicroRNA-196a2 gene polymorphism is linked to a higher risk of prostate cancer (CaP), while microRNA-146 and microRNA-149 did not show an association with CaP.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"235-243"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Enhancing Parkinson's disease prediction using meta-heuristic optimized machine learning models. 利用元启发式优化机器学习模型增强帕金森病预测。

Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-07-11 DOI: 10.1080/17410541.2025.2532361

Afeez A Soladoye, David B Olawade, Adebimpe O Esan, Nicholas Aderinto, Bolaji A Omodunbi, Ibrahim A Adeyanju, Stergios Boussios

{"title":"Enhancing Parkinson's disease prediction using meta-heuristic optimized machine learning models.","authors":"Afeez A Soladoye, David B Olawade, Adebimpe O Esan, Nicholas Aderinto, Bolaji A Omodunbi, Ibrahim A Adeyanju, Stergios Boussios","doi":"10.1080/17410541.2025.2532361","DOIUrl":"10.1080/17410541.2025.2532361","url":null,"abstract":"Parkinson's disease is a progressive neurological disorder affecting movement and cognition. Early detection is crucial but challenging with traditional methods. This study applies meta-heuristic optimization to enhance machine learning prediction models. A Parkinson's dataset with demographic, lifestyle, medical, clinical, and cognitive features was analyzed using three feature selection techniques: Whale Optimization Algorithm, Artificial Bee Colony Optimization, and Backward Elimination (BE). Random Forest (RF) models were optimized using Artificial Ant Colony Optimization for hyperparameter tuning. The optimized RF model with BE achieved 93% accuracy and 97% AUC, outperforming K-Nearest Neighbors, Support Vector Machines, Logistic Regression, XGBoost, and Stacked Ensemble models. Optimization reduced tuning time from 133 to 18 minutes. A comparison with traditional approaches and negative controls validated the results, though clinical validation remains essential before deployment. Meta-heuristic optimization significantly improves Parkinson's prediction performance and efficiency.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"223-234"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Awareness, and interest in personalized medicine: a cross-sectional survey study of health professionals. 个性化医疗的意识和兴趣：卫生专业人员的横断面调查研究。

Personalized medicine Pub Date : 2025-07-30 DOI: 10.1080/17410541.2025.2538427

Ali Mostafaei, Aysan Rahmani, Kavous Shahsavarinia, Sepideh Harzand-Jadidi, Nooshin Milanchian, Fatemeh Rahmati, Hanieh Salehi-Pourmehr, Sakineh Hajebrahimi

{"title":"Awareness, and interest in personalized medicine: a cross-sectional survey study of health professionals.","authors":"Ali Mostafaei, Aysan Rahmani, Kavous Shahsavarinia, Sepideh Harzand-Jadidi, Nooshin Milanchian, Fatemeh Rahmati, Hanieh Salehi-Pourmehr, Sakineh Hajebrahimi","doi":"10.1080/17410541.2025.2538427","DOIUrl":"https://doi.org/10.1080/17410541.2025.2538427","url":null,"abstract":"Background: Personalized medicine (PM) is advancing disease prevention and treatment, but regulatory and clinical concerns persist, requiring evaluation of healthcare professionals' (HPs) knowledge and attitudes.Methods: His study assessed PM awareness among HPs at Tabriz University of Medical Sciences, Iran. Participants from diverse clinical departments completed a survey covering PM definitions, benefits, ethical concerns, genetic testing knowledge, attitudes, and barriers. A literature review guided question development.Results: Among 141 HPs (55.3% male, 44.7% female), only 27.7% reported sufficient PM knowledge, though 82.3% acknowledged genetic health influences. Those with adequate knowledge more often endorsed PM tools (92.3% vs. 68.6%, p = 0.01) but expressed greater concern about healthcare disparities (82.1% vs. 67.6%, p = 0.03). Key barriers included cost (17%) and ethical risks, with 72% fearing PM would widen economic gaps and 23.4% anticipating insurance discrimination. Females and married HPs were more concerned about discrimination (p = 0.039 and p = 0.038, respectively). Despite concerns, 80% of physicians supported genome-guided prescribing.Conclusion: While HPs recognize PM's potential, limited awareness and ethical concerns hinder adoption. Addressing knowledge gaps and equity issues through education is crucial for PM integration in Iran.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A rare likely pathogenic HLA-DRB1 variant with compromised immunity in severe COVID-19 patient and in-hospital mortality. 一种罕见的可能致病性HLA-DRB1变异，在严重的COVID-19患者和住院死亡率中具有免疫力低下。

Personalized medicine Pub Date : 2025-07-24 DOI: 10.1080/17410541.2025.2538424

Rashid Mir, Badr A Alsayed, Mohammad Fahad Ullah

{"title":"A rare likely pathogenic HLA-DRB1 variant with compromised immunity in severe COVID-19 patient and in-hospital mortality.","authors":"Rashid Mir, Badr A Alsayed, Mohammad Fahad Ullah","doi":"10.1080/17410541.2025.2538424","DOIUrl":"https://doi.org/10.1080/17410541.2025.2538424","url":null,"abstract":"The severity of COVID-19 disease can vary greatly, influenced by genetic factors and comorbid conditions that may increase mortality. This study has examined potential genetic influences on the disease for a young adult aged 36 years with T2DM-CAD multi-morbidity with severe COVID-19 disease and in-hospital mortality using whole-exome sequencing. The patient exhibited a constellation of severe symptoms and abnormality in several biochemical markers associated with COVID-19 disease and comorbid conditions. A total of 756 variants were discovered in the patient, including several rare and novel variants associated with immune pathways. A set of 10 unique candidate variants in 10 distinct genes were identified with nine variants located within genes associated with the COVID-19 panel (HLA-DRB1, IL23R, PRKDC, RNF31, SLC37A4, TAP2, TCIRG1, TCN2, and TPP2), while one variant was found in a gene (PAX6) from Diabetes panel. Enrichment analysis showed that the top three enriched GO biological processes were a response to stimulus (n = 23, p = 6.8E-3), immune system process (n = 22, p = 3.6E-12), and regulation of immune system process (n = 19, p = 1.57E-11). The Maximal Clique Centrality algorithm identified HLA-DRB1 as a prominent hub gene and potential loss-of-function mutation in HLA-DRB1, suggests a compromised antigen presentation mechanism within this patient.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A scoping review of the cost-effectiveness of precision treatment in chronic lymphocytic leukemia. 慢性淋巴细胞白血病精确治疗成本-效果的范围综述。

Personalized medicine Pub Date : 2025-07-23 DOI: 10.1080/17410541.2025.2535276

Jesman Punian, Morgan Ehman, Deirdre Weymann, Dean A Regier

{"title":"A scoping review of the cost-effectiveness of precision treatment in chronic lymphocytic leukemia.","authors":"Jesman Punian, Morgan Ehman, Deirdre Weymann, Dean A Regier","doi":"10.1080/17410541.2025.2535276","DOIUrl":"https://doi.org/10.1080/17410541.2025.2535276","url":null,"abstract":"Chronic lymphocytic leukemia (CLL) is a common, incurable leukemia. Precision treatment for CLL uses genetic testing to align therapeutic selection with patient characteristics. Insurers are uneven in their reimbursement of precision CLL treatment, partly due to uncertain evidence of cost-effectiveness. This review surveys the current cost-effectiveness evidence for precision CLL treatment and identifies areas for future research. We conducted a scoping review of economic evaluations of precision CLL treatments indexed in PubMed, Embase, and Web of Science and published by October 2024. Eight articles were retrieved. Studies examined heterogeneous patient populations, treatment regimens, and stratification strategies. Four studies (50%) focused on subgroups with del(17p) and/or TP53 mutations only. Three studies (38%) analyzed the costs and outcomes of both treatment and genetic testing, while 62% did not include the cost or outcomes of genetic testing. All studies obtained clinical model parameters from published trials. Five studies (63%) reported that precision CLL treatment was likely cost-effective at willingness to pay thresholds ranging from $26,489/QALY to $130,477/QALY. Future research should focus on generating real-world data, broadening the scope of analysis to include societal perspectives, and exploring distributional impacts to more effectively address the heterogeneity of precision CLL treatments when determining their cost-effectiveness.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Optimizing breast cancer therapy: chemoressitance and machine learning for precision prediction. 优化乳腺癌治疗：精确预测的化疗和机器学习。

Personalized medicine Pub Date : 2025-07-16 DOI: 10.1080/17410541.2025.2532362

Martina Lichtenfels, Matheus G S Dalmolin, Julia Caroline Marcolin, Heloisa Resende, Alessandra Borba Anton de Souza, Bianca Silva Marques, Vivian Fontana, Francine Hickmann Nyland, Mário Casales Schorr, Isabela Miranda, Luiza Kobe, Camila Alves da Silva, Marcelo Ac Fernandes, Caroline Brunetto de Farias, Antônio Luiz Frasson, José Luiz Pedrini

{"title":"Optimizing breast cancer therapy: chemoressitance and machine learning for precision prediction.","authors":"Martina Lichtenfels, Matheus G S Dalmolin, Julia Caroline Marcolin, Heloisa Resende, Alessandra Borba Anton de Souza, Bianca Silva Marques, Vivian Fontana, Francine Hickmann Nyland, Mário Casales Schorr, Isabela Miranda, Luiza Kobe, Camila Alves da Silva, Marcelo Ac Fernandes, Caroline Brunetto de Farias, Antônio Luiz Frasson, José Luiz Pedrini","doi":"10.1080/17410541.2025.2532362","DOIUrl":"https://doi.org/10.1080/17410541.2025.2532362","url":null,"abstract":"Background: Validate a novel in vitro resistance platform for breast cancer (BC) by assessing resistance profiles of treatment-naïve and residual tumors after neoadjuvant chemotherapy (NACT) and applying a machine learning algorithm to predict NACT response using clinical biomarkers.Methods: Tumor cells from primary BC and residual disease (RD) were cultured on the chemoresistance platform with various chemotherapies. Resistance was categorized as low ( < 40%), medium (40-60%), or high ( > 60%) after 72 h based on cell viability. Clinicopathological data from BC samples were analyzed using the XGBoost algorithm and SHAP interpretation to identify NACT-resistant patients.Results: Patients undergoing upfront surgery (n = 70) exhibited significantly favorable prognosis compared to RD cases (n = 27), which had higher drug resistance and worse outcomes. AI analysis of 1,012 patients achieved 82% accuracy in predicting pathological response and RD, with age, estrogen receptor status, tumor grade and size, axillary status, and HER2 status identified as key predictors. The algorithm predicted NACT resistance with 81.8% accuracy in 11 patient samples.Conclusion: The chemoresistance platform identified resistance patterns highlighting its utility in precision medicine. Additionally, the XGBoost algorithm accurately predicted NACT response, supporting the integration of AI with functional precision medicine for personalized BC treatment.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144644466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0