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Preventing adverse drug reactions and more: current clinical use of pharmacogenetic testing. 预防药物不良反应及其他：目前药物遗传检测的临床应用。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2019
Ursula Amstutz
{"title":"Preventing adverse drug reactions and more: current clinical use of pharmacogenetic testing.","authors":"Ursula Amstutz","doi":"10.1515/medgen-2025-2019","DOIUrl":"10.1515/medgen-2025-2019","url":null,"abstract":"<p><p>Genomic variants affecting an individual's response to drug therapies are common in populations worldwide. For clinical use, information on pharmacogenomic variation is translated into genotype-based therapy recommendations in evidence-based clinical practice guidelines for an increasing number of drugs. While clinical pharmacogenetic testing is currently still frequently performed at the level of individual genes, recent evidence highlighted the potential of a panel-based testing approach to substantially reduce the incidence of adverse drug reactions. This review provides background on pharmacogenetics, nomenclature used for reporting pharmacogenetic test results, as well as an overview of available resources for pharmacogenetic test interpretation.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"197-206"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
S1- Leitlinie "Molekulargenetische Diagnostik mit Hochdurchsatz-Sequenzierverfahren (Massives Paralleles Sequenzieren, MPS)". “大规模并行测序（MPS）的分子遗传学诊断”。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2026
{"title":"S1- Leitlinie \"Molekulargenetische Diagnostik mit Hochdurchsatz-Sequenzierverfahren (Massives Paralleles Sequenzieren, MPS)\".","authors":"","doi":"10.1515/medgen-2025-2026","DOIUrl":"https://doi.org/10.1515/medgen-2025-2026","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"209-225"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12278366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
37. Tumorgenetischen Arbeitstagung 2025: 08. bis 10. Mai 2025 in der Messe- und Universitätsstadt Leipzig. 37. 生物医学工程学报，2015-08-08。至10 .2025年5月在莱比锡大学举行。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2021
{"title":"37. Tumorgenetischen Arbeitstagung 2025: 08. bis 10. Mai 2025 in der Messe- und Universitätsstadt Leipzig.","authors":"","doi":"10.1515/medgen-2025-2021","DOIUrl":"https://doi.org/10.1515/medgen-2025-2021","url":null,"abstract":"<p><p>The acquisition of subsequent genetic lesions (clonal evolution, CE) and/or the expansion of existing clones (CEXP) contributes to clonal dynamics (CD) in myelodysplastic syndromes (MDS). Although CD plays an important role in high-risk patients in disease progression and transformation into acute myeloid leukemia (AML), knowledge about CD in lower-risk MDS (LR-MDS) patients is limited due to lack of robust longitudinal data considering the long clinically stable courses of the disease. In this retrospective analysis, we delineate the frequency and the prognostic impact of CD in an unselected real-world cohort of LR-MDS patients. We screened 68 patients with a median follow-up of 40.5 months and a median of 7.5 (range: 2-22) timepoints for CE and CEXP detected by chromosomal banding analysis, fluorescence in situ hybridization (FISH), sequencing, and molecular karyotyping. In 30/68 patients, 47 CE events and a CD rate of 1 event per 4 years were documented. Of note, patients with at least 1 CE event had an increased probability for subsequent treatment. Unexpectedly, CE did not correlate with inferior outcome, which could be reasonably explained by CD detection triggering the subsequent start of a disease-modifying therapy (DMT).</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"245-248"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Regulatorische Vorgaben beanspruchen zunehmend Kapazitäten in humangenetischen Laboren. 监管要求对人类基因实验室的能力提出了越来越大的要求。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2022
{"title":"Regulatorische Vorgaben beanspruchen zunehmend Kapazitäten in humangenetischen Laboren.","authors":"","doi":"10.1515/medgen-2025-2022","DOIUrl":"10.1515/medgen-2025-2022","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"251-252"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos: Laudatio by Prof. Dr. med. André Reis, Institute of Human Genetics, Universitätsklinikum Erlangen, on the occasion of the 35. GfH Conference on 02.04.2025 in Innsbruck. 颁发2025年GfH荣誉勋章给Stefan Mundlos博士教授：人类遗传学研究所（Universitätsklinikum Erlangen）的andr<s:1> Reis博士教授在35周年之际向他表示祝贺。2025年4月2日在因斯布鲁克举行的世界卫生组织国际会议。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2014
André Reis
{"title":"Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos: Laudatio by Prof. Dr. med. André Reis, Institute of Human Genetics, Universitätsklinikum Erlangen, on the occasion of the 35. GfH Conference on 02.04.2025 in Innsbruck.","authors":"André Reis","doi":"10.1515/medgen-2025-2014","DOIUrl":"https://doi.org/10.1515/medgen-2025-2014","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"231-232"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current and future precision therapy approaches in the long QT syndrome. 长QT综合征目前和未来的精确治疗方法。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2015
Saranda Nimani, Miriam Barbieri, Marina Rieder, Katja E Odening
{"title":"Current and future precision therapy approaches in the long QT syndrome.","authors":"Saranda Nimani, Miriam Barbieri, Marina Rieder, Katja E Odening","doi":"10.1515/medgen-2025-2015","DOIUrl":"10.1515/medgen-2025-2015","url":null,"abstract":"<p><p>The long QT syndrome is a genetic arrhythmia disorder that predisposes patients to ventricular arrhythmias and sudden cardiac death. Pronounced genotype-specific differences in molecular mechanisms, arrhythmia triggers, and arrhythmogenic risk are well established, making the disease a prime candidate for precision medicine approaches in cardiology. In this review, we first highlight the genetic basis of long QT syndrome, clinical genotype differences, and risk prediction approaches. In the second part, we discuss the current standard therapies applicable to all genotypes, as well as both established and emerging gene-specific precision therapy approaches.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"189-196"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Precision medicine. 精密医学。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2028
Christiane Zweier, Miriam Elbracht, Ilona Krey-Grauert
{"title":"Precision medicine.","authors":"Christiane Zweier, Miriam Elbracht, Ilona Krey-Grauert","doi":"10.1515/medgen-2025-2028","DOIUrl":"https://doi.org/10.1515/medgen-2025-2028","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"161-162"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Antisense oligonucleotide therapies for monogenic disorders. 反义寡核苷酸治疗单基因疾病。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2025
Ilona Krey-Grauert, Irene Ferro, Matias Wagner
{"title":"Antisense oligonucleotide therapies for monogenic disorders.","authors":"Ilona Krey-Grauert, Irene Ferro, Matias Wagner","doi":"10.1515/medgen-2025-2025","DOIUrl":"10.1515/medgen-2025-2025","url":null,"abstract":"<p><p>Antisense oligonucleotides (ASOs) are a promising therapeutic modality for monogenic disorders, offering precise RNA-targeting strategies to modulate gene expression. Despite challenges in delivery, toxicity, and off-target effects, ASO therapies have advanced rapidly, with several approved treatments and numerous candidates in clinical development. Their application spans neurogenetic, metabolic, and oncologic disorders, also with emerging n-of-1 approaches for ultra-rare conditions. This review describes the different mechanism of how ASOs work depending on their chemistry and discusses the considerations of which patients could be amendable for treatment highlighting the role of human genetics for decision making.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"179-187"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tagungsbericht des Tagungspräsidenten Univ.-Prof. Dr. med. Johannes Zschocke, Ph.D. “大学校长”。约翰内斯·茨肖克博士，医学博士
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2016
{"title":"Tagungsbericht des Tagungspräsidenten Univ.-Prof. Dr. med. Johannes Zschocke, Ph.D.","authors":"","doi":"10.1515/medgen-2025-2016","DOIUrl":"https://doi.org/10.1515/medgen-2025-2016","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"227-229"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Updates zum Modellvorhaben Genomsequenzierung nach § 64e SGB V. 根据§64e SGB V更新模型项目基因组测序。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2027
Malte Spielmann
{"title":"Updates zum Modellvorhaben Genomsequenzierung nach § 64e SGB V.","authors":"Malte Spielmann","doi":"10.1515/medgen-2025-2027","DOIUrl":"https://doi.org/10.1515/medgen-2025-2027","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"249"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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