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Correspondence on “What’s in a name? Issues to consider when naming Mendelian disorders” by Rasmussen et al 关于“名字有什么意义？”Rasmussen等人在命名孟德尔障碍时要考虑的问题。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101627
Joël Zlotogora
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引用次数: 0
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) 苯丙氨酸羟化酶缺乏症的诊断和治疗：美国医学遗传与基因组学学会（ACMG） 2023循证临床指南
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101602
Wendy E. Smith, Susan A. Berry, Kaitlyn Bloom, Christine Brown, Barbara K. Burton, Olivia M. Demarest, Gabrielle P. Jenkins, Jennifer Malinowski, Kim L. McBride, H. Joel Mroczkowski, Curt Scharfe, Jerry Vockley, ACMG Board of Directors
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引用次数: 0
Response to Kane and Coleman 对凯恩和科尔曼的回应。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101616
Sanjana Basava , William B. Dobyns
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引用次数: 0
Response to Burgard et al 对Burgard等人的回应。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101601
Wendy E. Smith , Barbara K. Burton , Christine Brown , Jennifer Malinowski , Kim L. McBride , Jerry Vockley
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引用次数: 0
Response to Spurdle et al 对Spurdle等人的回应。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101637
Seth I. Berger , Georgia Pitsava , Changrui Xiao , Emmanuèle C. Délot , Eric Vilain
{"title":"Response to Spurdle et al","authors":"Seth I. Berger , Georgia Pitsava , Changrui Xiao , Emmanuèle C. Délot , Eric Vilain","doi":"10.1016/j.gim.2025.101637","DOIUrl":"10.1016/j.gim.2025.101637","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101637"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correspondence on “Patterns of X-linked inheritance: A new approach for the genome era” by Basava et al 关于Basava等人的“x连锁遗传模式：基因组时代的新方法”的通信。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101617
Taylor Kane , Tanner F. Coleman
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引用次数: 0
Response to Sansom et al 对Sansom等人的回应。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101639
Katharine Press Callahan , Rebecca Mueller , Steven Joffe , Cara Skraban , Nancy Spinner , Karen Crew , Justin Clapp , David Munson , Chris Feudtner
{"title":"Response to Sansom et al","authors":"Katharine Press Callahan , Rebecca Mueller , Steven Joffe , Cara Skraban , Nancy Spinner , Karen Crew , Justin Clapp , David Munson , Chris Feudtner","doi":"10.1016/j.gim.2025.101639","DOIUrl":"10.1016/j.gim.2025.101639","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"28 1","pages":"Article 101639"},"PeriodicalIF":6.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access 种族、民族和祖先群体的十年外显子组测序和再分析：公平的再分析机会的重要性。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101576
Andrew Giles , Kimberly Zayhowski , Maggie Ruderman , John Ranola , Grace E. VanNoy , Meghan Towne

Purpose

Race, ethnicity, and ancestry (REA) affect the diagnostic utility of genetic testing. In addition to barriers to accessing genetics services, some non-European REA groups experience decreased diagnostic results and increased uncertain results. Exome sequencing (ES) is a unique genetic test because data can be reanalyzed with new information and variants may be reclassified after the original result.

Methods

We performed a retrospective review of 10,416 clinical ES cases originally analyzed by Ambry Genetics between 2011 and 2021 with reanalysis events through 2023. The relationship between assigned REA group, ES result, reanalysis and reclassification rates, and reanalysis initiators were analyzed with logistic regression.

Results

Reanalyses increased the total diagnostic yield from 21.4% to 25.5%. There were no significant differences in reclassification rate among REA groups. However, the African American and Black group (P = 2.8E−07), the Hispanic and Latino group (P = .0022), and the Asian group (P = .033) were significantly less likely to receive provider-initiated reanalysis compared with the White group.

Conclusion

Although reclassification rates were not found to be associated with REA group, not all REA groups had the same access to ES reanalysis. Laboratory-initiated proactive reanalysis can help reduce disparities in ES diagnostic utility by reducing barriers to accessing reanalysis.
目的：人种、民族和血统（REA）影响基因检测的诊断效用。除了获得遗传学服务的障碍之外，一些非欧洲REA群体的诊断结果下降，不确定结果增加。外显子组测序（ES）是一种独特的基因检测方法，因为数据可以用新的信息重新分析，变异可以在原始结果之后重新分类。方法：我们对2011年至2021年间Ambry Genetics最初分析的10416例临床ES病例进行了回顾性分析，并进行了到2023年的再分析。采用logistic回归分析分配的REA组、ES结果、再分析和再分类率以及再分析启动因素之间的关系。结果：再分析将总诊断率从21.4%提高到25.5%。REA组间再分类率无显著性差异。然而，与白人组相比，非裔美国人和黑人组（P = 2.80 e -07），西班牙裔和拉丁裔组（P = 0.0022）和亚洲组（P = 0.033）接受提供者发起的再分析的可能性显着降低。结论：虽然再分类率与REA组没有相关性，但并非所有REA组都有相同的ES再分析机会。实验室发起的主动再分析可以通过减少获得再分析的障碍，帮助减少ES诊断效用的差异。
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引用次数: 0
Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al Smith等人对《苯丙氨酸羟化酶缺乏症的诊断和治疗：美国医学遗传与基因组学会（ACMG） 2023循证临床指南》的通信
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101600
Peter Burgard , Diana Ballhausen , Julia B. Hennermann , Georg F. Hoffmann , Stefan Kölker , Vassiliki Konstantopoulou , Robin Lachmann , Esther M. Maier , Elaine Murphy , Kurt Ullrich , Athanasia Ziagaki , Johannes Zschocke , Martin Lindner
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引用次数: 0
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome 对11例RNU4-2致病变异个体的深度表型分析揭示了一种临床可识别的综合征。
IF 6.2 1区 医学 Q1 GENETICS & HEREDITY
Genetics in Medicine
Pub Date : 2026-01-01 DOI: 10.1016/j.gim.2025.101633
Irene Valenzuela , Marta Codina-Solà , Elida Vazquez , Anna Cueto-González , Jordi Leno-Colorado , Amaia Lasa-Aranzasti , Laura Trujillano , Bárbara Masotto , Miriam Masas , Mar Escobar , Elena García-Arumí , Eduardo F. Tizzano
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引用次数: 0
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