Genetics in Medicine Open最新文献_第4页

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) Lenmeldy （atidarsagene autotemcell）治疗早期异色性脑白质营养不良（MLD）：美国医学遗传学与基因组学学院（ACMG）的治疗公报

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.103432

Rahaman Navaz Gangji , Qais Abu Ali , Radhika Dhamija , Andrés Morales Corado , Sandhya Kharbanda , ACMG Therapeutics Committee

引用次数: 0

Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patients 药物基因组学测试的实施：三级保健中心512例患者试点的经验和结果

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.103426

Dana Bakheet , Hana Al Alshaykh , Ghadi Askar , Sateesh Maddirevula , Samya Hagos , Nasir Hamad Alshahrani , Midrar Alhusseini , Amani Moharram , Faries Algadhi , Osama Alswailim , Moatasem Alsulaim , Bandar Alamro , Fadl Elmula Mohamed Fadl Elmula , Bahadur Khan , Ahmed Almustafa , Ahmed Alshehri , Dimpna Brotons , Fahad Alajlan , Mohammed Alnahedh , Abdullah Alsuwaidan , Ahmed Alfares

{"title":"Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patients","authors":"Dana Bakheet , Hana Al Alshaykh , Ghadi Askar , Sateesh Maddirevula , Samya Hagos , Nasir Hamad Alshahrani , Midrar Alhusseini , Amani Moharram , Faries Algadhi , Osama Alswailim , Moatasem Alsulaim , Bandar Alamro , Fadl Elmula Mohamed Fadl Elmula , Bahadur Khan , Ahmed Almustafa , Ahmed Alshehri , Dimpna Brotons , Fahad Alajlan , Mohammed Alnahedh , Abdullah Alsuwaidan , Ahmed Alfares","doi":"10.1016/j.gimo.2025.103426","DOIUrl":"10.1016/j.gimo.2025.103426","url":null,"abstract":"<div><h3>Purpose</h3><div>Pharmacogenomic (PGx) testing has proven significant clinical utility in minimizing adverse drug reactions and maximizing therapeutic effects. This report is a proof of concept of the clinical implementation of PGx testing at a tertiary care hospital in Riyadh, Saudi Arabia.</div></div><div><h3>Methods</h3><div>In collaboration with different departments, we implemented the PGx testing clinical service into our electronic health record cerner for heart and neurology centers patients. We used the PharmacoScan microarray-based test to perform genotyping.</div></div><div><h3>Results</h3><div>To date, 512 patients have been tested. 97.5% of all patients have at least 1 gene with altered function. Among those patients, <em>n</em> = 402 (78.5%) had 3 or more genes with altered function (3 genes = 197, 38.5%, 4 genes = 134, 26.2%, 5 genes = 58, 11.3%, and 6 genes = 13, 2.5%).</div></div><div><h3>Conclusion</h3><div>Our work describes the successful implementation of PGx testing in clinical practice and encourages further research on improving patient outcomes. Moreover, we describe the major challenges at each step of our approach, which provides our institute and others with lessons and insights on implementing PGx testing into clinical practice.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 103426"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168680","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

Implementation of genetic testing for heritable cardiac conditions: A scoping review 遗传性心脏病基因检测的实施：范围综述

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.103441

Ana Morales , Jessica Goehringer , Paige L. McDonald , Despina Sanoudou

{"title":"Implementation of genetic testing for heritable cardiac conditions: A scoping review","authors":"Ana Morales , Jessica Goehringer , Paige L. McDonald , Despina Sanoudou","doi":"10.1016/j.gimo.2025.103441","DOIUrl":"10.1016/j.gimo.2025.103441","url":null,"abstract":"<div><h3>Purpose</h3><div>We aimed to identify themes and knowledge gaps about the current state of cardiovascular genetic testing implementation from the nongenetics clinician’s perspective.</div></div><div><h3>Methods</h3><div>Cardiovascular genetics is an emerging subspecialty for which no formal training exists, and its implementation is a complex endeavor. Therefore, guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Review, which involves broad inclusion criteria and is agnostic to the quality of evidence, we conducted a scoping review methodology.</div></div><div><h3>Results</h3><div>PubMed and Scopus searches identified 32 original research articles documenting limited implementation by nongenetics professionals in familial hypercholesterolemia (<em>n</em> = 10), cardiovascular pharmacogenomics (<em>n</em> = 10), cardiomyopathy/arrhythmia (<em>n</em> = 5), and congenital heart defects (<em>n</em> = 1). Common barriers included education and cost, whereas facilitators included multidisciplinary collaboration and adopting technology to assist with case identification. The perspective of payers and public policymakers was largely missing from this literature.</div></div><div><h3>Conclusion</h3><div>Cardiovascular genetics implementation by nongenetics professionals is still in its early stages. Based on our results, we recommend prioritizing implementation research on topics related to clinician education, health economics, technology, and collaborative models in consultation with payers and policymakers. Informed by barriers and facilitators, we offer suggestions to clinicians and researchers implementing genetic medicine in cardiology clinics.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 103441"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704866","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

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG) GRCh37到GRCh38参考基因组转换的实验室考虑：美国医学遗传学和基因组学学院（ACMG）实验室质量保证公告

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.103433

Vimla S. Aggarwal , Saurav Guha , Matthew S. Lebo , Kyle Retterer , Curt Scharfe , Lora J.H. Bean , ACMG Laboratory Quality Assurance Committee

引用次数: 0

P051: Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns 产前芬太尼暴露对新生儿Smith-Lemli-Opitz综合征甾醇分析的影响

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102895

Ibrahim Khoja , Gisele Pino , Dawn Peck , April Studinski , Dimitar Gavrilov , Devin Oglesbee , Dietrich Matern , Matthew Schultz , Patricia Hall , Silvia Tortorelli , Amy White

引用次数: 0

P071: Two de novo intronic mutations of GLS gene leading to glutaminase deficiency/autosomal recessive developmental and epileptic encephalopathy 71 (AR-DEE71) P071: GLS基因的两个新生内含子突变导致谷氨酰胺酶缺乏症/常染色体隐性发育性和癫痫性脑病71 （AR-DEE71）

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102915

M.J. Hajianpour , Kate Tauber , Joaquim Pinheiro , Bailey Whitbeck , Prima Das , John Pugh

引用次数: 0

Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing 通过整合RNA测序，完善对遗传性癌症筛查中不确定意义的变异的解释。

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101914

Youbao Sha , J. Bryce Ortiz , Sara L. Bristow , Kate Loranger , Linyan Meng , Xiaonan Zhao , Fan Xia , Sheetal Parmar , Adam C. ElNaggar , Wenbo Xu

{"title":"Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing","authors":"Youbao Sha , J. Bryce Ortiz , Sara L. Bristow , Kate Loranger , Linyan Meng , Xiaonan Zhao , Fan Xia , Sheetal Parmar , Adam C. ElNaggar , Wenbo Xu","doi":"10.1016/j.gimo.2024.101914","DOIUrl":"10.1016/j.gimo.2024.101914","url":null,"abstract":"<div><h3>Purpose</h3><div>Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. Here, we investigated the impact of RNA sequencing (RNA-seq) data on the ability to resolve splicing-related VUS.</div></div><div><h3>Methods</h3><div>Patients with VUS predicted to alter splicing identified through commercial hereditary cancer testing between October 2021 to July 2023 were included. RNA-seq was used to compare splicing patterns between patient blood samples and normal controls. VUS reclassification rates were calculated.</div></div><div><h3>Results</h3><div>In total, 411 VUS in 52 genes predicted to affect splicing were included. RNA-seq results resolved 26.3% (108/411) of the VUS: 28 (6.8%) upgraded to pathogenic/likely pathogenic, and 80 (19.5%) downgraded to not reportable. Among the 28 upgraded, 17 (60.7%) were intronic, 9 (32.1%) were exonic missense variants, and 2 (7.1%) were exonic synonymous variants. Most of the VUS downgraded to not reportable were intronic (64/80, 80%). The remaining 16 (20%) of the downgraded VUS were synonymous variants.</div></div><div><h3>Conclusion</h3><div>This study underscores the utility of RNA-seq to detect variants that affect splicing and could have an impact on cancer risk assessment management and treatment.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101914"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143124311","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

P048: Three year safety experience in children treated with govorestat for classic galactosemia P048：用govorestat治疗经典半乳糖血症儿童3年的安全性经验

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102892

Evan Bailey , Riccardo Perfetti , Shoshana Shendelman

引用次数: 0

P050: Integrating metabolic, genetic, and demographic data for enhanced newborn screening P050：整合代谢、遗传和人口统计数据，加强新生儿筛查

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102894

Curt Scharfe , Yuhan Xie , Gang Peng , Laura Forero , Gregory Enns , Hongyu Zhao , Tina Cowan

引用次数: 0

P002: Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study* OPAL研究中，接受pegvaliase治疗的成人PKU患者血液苯丙氨酸和健康相关生活质量的改善*

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102846

Markey McNutt II , Ogün Sazova , Milad Karimi , Naomi Schwartz , Frank Rutsch , Ania Muntau

引用次数: 0