Genetics in Medicine Open最新文献

{"title":"P057: Withdrawn","authors":"","doi":"10.1016/j.gimo.2024.100934","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100934","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100934"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000803/pdfft?md5=59d935f1715836f97734268f2f74b681&pid=1-s2.0-S2949774424000803-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062151","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}

{"title":"P045: Unraveling the complexity of the COG complex: A case report on a severe phenotype presentation of COG8-CDG","authors":"Deepika Pugalenthi Saravanan , Estrella Lizbeth Mellin Sanchez , Dustin Paul","doi":"10.1016/j.gimo.2024.100922","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100922","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100922"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000682/pdfft?md5=3743512991ab1e6c4b1c9eef49a5f4ae&pid=1-s2.0-S2949774424000682-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062248","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}

{"title":"P063: A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries*","authors":"Timothy Simmons , Elisha Hughes , Dmitry Pruss , Matthew Kucera , Benjamin Roa , Thaddeus Judkins , Thomas Slavin , Victor Abkevich , Ryan Hoff , Srikanth Jammulapati , Susanne Wagner , Dale Muzzey , Jerry Lanchbury , Alexander Gutin","doi":"10.1016/j.gimo.2024.100945","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100945","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100945"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000918/pdfft?md5=4259a3db244bac9e7f51710520a0719b&pid=1-s2.0-S2949774424000918-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062522","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}

{"title":"ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics","authors":"Jessie M. Cameron ,&nbsp;Mayowa Azeez Osundiji ,&nbsp;Rory J. Olson ,&nbsp;Bukola A. Olarewaju ,&nbsp;Andreas Schulze","doi":"10.1016/j.gimo.2024.101815","DOIUrl":"10.1016/j.gimo.2024.101815","url":null,"abstract":"<div><h3>Purpose</h3><p>Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of <em>ARG1</em> variants do not sufficiently distinguish benign from pathogenic variants. Additionally, ongoing discussions of reproductive carrier screening for diseases such as ARG1 creates a need for improved understanding of <em>ARG1</em> variant classification. Here, we incorporate American College of Medical Genetics and Genomics/Association for Molecular Pathology–developed guidelines for interpreting gene variants and in silico predictions to select allele frequencies for estimation of global birth prevalence of ARG1 deficiency.</p></div><div><h3>Methods</h3><p>We interrogated Genome Aggregation Database and PubMed for published (defined as identified in patients with clinically defined arginase deficiency in scientific literature, <em>n</em> = 73) and unpublished <em>ARG1</em> variants (defined as variants present in Genome Aggregation Database, unique to <em>ARG1</em>, but not yet associated with clinical arginase deficiency, <em>n</em> = 302). American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines were applied to classify variants using Franklin Genoox artificial intelligence–powered platform and manual review.</p></div><div><h3>Results</h3><p>Of 73 published <em>ARG1</em> variants, 16 classified as pathogenic, 30 as likely pathogenic, and 27 as variant of uncertain significance. Of 302 unpublished <em>ARG1</em> variants, 3 classified as pathogenic, 28 likely pathogenic, and 229 variant of uncertain significance. Mutant allele frequency estimates ranged from 17 to 266 per 100,000 and birth prevalence from 1 in 141,331 to 34,602,076.</p></div><div><h3>Conclusion</h3><p>We show that a large proportion of <em>ARG1</em> variants lack adequate evidence of pathogenicity. These findings underscore the significance of functional studies and accumulating clinical data for determination of variant pathogenicity and for improved understanding of global birth prevalence of ARG1 deficiency.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101815"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424009610/pdfft?md5=d45406d057806e02cf0ff286f135542b&pid=1-s2.0-S2949774424009610-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139634076","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}

{"title":"Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists","authors":"Mahmoud Aarabi ,&nbsp;Helia Darabi ,&nbsp;Aryan Bashar ,&nbsp;Daniel Bellissimo ,&nbsp;Aleksandar Rajkovic ,&nbsp;Svetlana A. Yatsenko","doi":"10.1016/j.gimo.2024.101839","DOIUrl":"10.1016/j.gimo.2024.101839","url":null,"abstract":"<div><h3>Purpose</h3><p>To determine the pathogenicity and frequency of copy-number variants (CNV) in the 81 secondary finding (SFv3.2) genes recommended by the American College of Medical Genetics and Genomics (ACMG).</p></div><div><h3>Methods</h3><p>Review of published evidence on pathogenicity of partial or complete copy-number losses or gains in ACMG SFv3.2 was performed. Frequency of reportable CNVs in the ACMG SFv3.2 genes was investigated among 10,959 patients tested by chromosomal microarray analysis in a single academic testing laboratory at the University of Pittsburgh Medical Center during 2011 to 2023.</p></div><div><h3>Results</h3><p>We identified 58 ACMG SFv3.2 genes for which sufficient evidence supports reporting of partial or complete copy-number losses as secondary findings. On the contrary, reporting of copy-number gains was not supported by evidence in any of the ACMG SFv3.2 genes. Overall, CNVs in SFv3.2 genes were detected in 32 of 10,959 (0.29% or 1 in 343) patients in our cohort.</p></div><div><h3>Conclusion</h3><p>This study provides a framework for consistent reporting of CNVs, detected by chromosomal microarray analysis, exome, or genome sequencing, in any of the ACMG SFv3.2 genes. To our knowledge, this is the largest cohort of patients studied for estimation of frequency of reportable CNVs in the ACMG SFv3.2 genes.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101839"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424009853/pdfft?md5=c5efbb332d384076d3d66ca39a320641&pid=1-s2.0-S2949774424009853-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140274450","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}

{"title":"Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program","authors":"Kirsten Boggs ,&nbsp;Fiona Lynch ,&nbsp;Michelle Ward ,&nbsp;Sophie E. Bouffler ,&nbsp;Samantha Ayres ,&nbsp;Robin Forbes ,&nbsp;Amanda Springer ,&nbsp;Michelle G. de Silva ,&nbsp;Elly Lynch ,&nbsp;Lyndon Gallacher ,&nbsp;Tenielle Davis ,&nbsp;Ana Rakonjac ,&nbsp;Kirsty Stallard ,&nbsp;Gemma R. Brett ,&nbsp;Zornitza Stark","doi":"10.1016/j.gimo.2024.101878","DOIUrl":"10.1016/j.gimo.2024.101878","url":null,"abstract":"<div><div>Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments—such as neonatal and pediatric intensive care units—are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice.</div><div>Rapid genomic testing (rGT) is increasingly becoming standard of care in acute care. GCs are well placed to support families through the rGT process. Despite this, there is a lack of consistency in the provision of comprehensive acute care genetic counseling globally and a subsequent need for professional guidance in this area.</div><div>The Acute Care Genomics study piloted a national approach to delivering rGT for infants and children admitted to intensive care units in Australia with suspected genetic conditions between 2018 and 2022. GCs from across Australia were involved in both pre- and post-test counseling for the families of these critically unwell children. Based on our collective experience of delivering this national rGT program, this article provides a discussion of common challenges for health professionals new to delivering rGT in intensive care. We share some practical solutions and make recommendations for supporting families in this area of practice.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101878"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141852243","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}

{"title":"Continuing education and professional development: Unifying opportunities for genetic counselors globally","authors":"Kathleen D. Valverde ,&nbsp;Tiffiney R. Hartman ,&nbsp;Sara L. Reichert ,&nbsp;Robin L. Bennett ,&nbsp;Martha Dudek ,&nbsp;Debra Duquette ,&nbsp;Daniel Riconda ,&nbsp;Nancy J. Cox ,&nbsp;Gail P. Jarvik ,&nbsp;Sarah H. Elsea ,&nbsp;Elizabeth M. McNally ,&nbsp;Kim C. Worley ,&nbsp;Daniel J. Rader","doi":"10.1016/j.gimo.2024.101854","DOIUrl":"10.1016/j.gimo.2024.101854","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101854"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879384","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}

{"title":"Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)","authors":"Pavalan Selvam ,&nbsp;Carlos F. Mares Beltrán ,&nbsp;Kuntal Sen ,&nbsp;Andrés Morales Corado ,&nbsp;ACMG Therapeutics Committee","doi":"10.1016/j.gimo.2024.101856","DOIUrl":"10.1016/j.gimo.2024.101856","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101856"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424010021/pdfft?md5=9c4ebc56b5bf11ef3a425dba9fe8197c&pid=1-s2.0-S2949774424010021-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141623450","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}

{"title":"P038: Trimethylaminuria: Investigations of patient and healthcare provider experiences","authors":"Jillian Kirk ,&nbsp;Leighann Sremba ,&nbsp;Timothy Wood","doi":"10.1016/j.gimo.2024.100915","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100915","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100915"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S294977442400061X/pdfft?md5=41252eb54a6d70a3538d55210ee8e58e&pid=1-s2.0-S294977442400061X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061909","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}

{"title":"P039: Establishing a rare registry for inherited metabolic disorders at the biochemical genetic lab in Pakistan: A decade of data","authors":"Lena Jafri ,&nbsp;Muhammad Bilal ,&nbsp;Hafsa Majid ,&nbsp;Sibtain Ahmed ,&nbsp;Azeema Jamil ,&nbsp;Saba Mateen ,&nbsp;Farhat Jahan ,&nbsp;Akhtar Shah ,&nbsp;Aysha Khan","doi":"10.1016/j.gimo.2024.100916","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100916","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100916"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000621/pdfft?md5=b26c1a04ad1d13e5daa75fe872d36cbb&pid=1-s2.0-S2949774424000621-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061910","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}