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Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).医学遗传学家在基因治疗临床试验中的贡献：美国医学遗传学与基因组学学会（ACMG）的一份需考虑要点声明
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FDA approves first haemophilia B gene therapy.美国食品药品监督管理局批准首款B型血友病基因疗法。
Nat Rev Drug Discov. 2023 Jan;22(1):7. doi: 10.1038/d41573-022-00199-8.
2
Approach to the patient with a variant of uncertain significance on genetic testing.基因检测结果为意义未明变异的患者的诊疗方法。
Clin Endocrinol (Oxf). 2022 Oct;97(4):400-408. doi: 10.1111/cen.14818. Epub 2022 Sep 5.
3
Estimating diagnostic noise in panel-based genomic analysis.评估基于基因panel的基因组分析中的诊断噪声。
Genet Med. 2022 Oct;24(10):2042-2050. doi: 10.1016/j.gim.2022.06.008. Epub 2022 Aug 4.
4
The Progress and Future of US Newborn Screening.美国新生儿筛查的进展与未来
Int J Neonatal Screen. 2022 Jul 18;8(3):41. doi: 10.3390/ijns8030041.
5
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).美国医学遗传学与基因组学学会（ACMG）关于临床外显子组和基因组测序中次要发现报告的ACMG SF v3.1清单：一项政策声明
Genet Med. 2022 Jul;24(7):1407-1414. doi: 10.1016/j.gim.2022.04.006. Epub 2022 Jun 17.
6
Food and Drug Administration Lifts Clinical Hold on Pfizer Duchenne Muscular Dystrophy Gene Therapy Linked to Patient Death.美国食品药品监督管理局解除对辉瑞公司杜氏肌营养不良症基因疗法的临床暂停，该疗法与患者死亡有关。
Hum Gene Ther. 2022 Jun;33(11-12):573-576. doi: 10.1089/hum.2022.29211.bfs.
7
The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study.临床试验环境下接受基因治疗的血友病患者及其家庭的体验：重获控制，Exigency 研究。
Orphanet J Rare Dis. 2022 Apr 4;17(1):155. doi: 10.1186/s13023-022-02256-2.
8
Limited Genomics Training Among Physicians Remains a Barrier to Genomics-Based Implementation of Precision Medicine.医生接受的基因组学培训有限，仍然是基于基因组学实施精准医学的障碍。
Front Med (Lausanne). 2022 Mar 18;9:757212. doi: 10.3389/fmed.2022.757212. eCollection 2022.
9
The attitude of patients with progressive ataxias towards clinical trials.进展性共济失调患者对临床试验的态度。
Orphanet J Rare Dis. 2022 Jan 4;17(1):1. doi: 10.1186/s13023-021-02091-x.
10
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.CRISPR-Cas9 体内基因编辑治疗转甲状腺素蛋白淀粉样变性。
N Engl J Med. 2021 Aug 5;385(6):493-502. doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26.

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

作者信息

Peña Loren D M, Burrage Lindsay C, Enns Gregory M, Esplin Edward D, Harding Cary, Mendell Jerry R, Niu Zhiyv Neal, Scharfe Curt, Yu Timothy, Koeberl Dwight D

机构信息

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.

出版信息

Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9.

DOI:10.1016/j.gim.2023.100831
PMID:37031408
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11040261/
Abstract
摘要