Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

被引：7
|
作者：
Deignan, Joshua L. [1 ]
De Castro, Mauricio [2 ,3 ]
Horner, Vanessa L. [4 ,5 ]
Johnston, Tami [6 ]
Macaya, Daniela [7 ]
Maleszewski, Joseph J. [8 ]
Reddi, Honey, V [9 ]
Tayeh, Marwan K. [10 ]
机构：
[1] UCLA Hlth, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90017 USA
[2] Air Force Med Genet Ctr, DHA Genet Reference Lab, Biloxi, MS USA
[3] Univ Mississippi, Dept Pediat, Div Med Genet, Med Ctr, Jackson, MS USA
[4] Univ Wisconsin, Sch Med & Publ Hlth, Dept Pathol & Lab Med, Madison, WI USA
[5] Univ Wisconsin, Wisconsin State Lab Hyg, Madison, WI USA
[6] Ambry Genet, Aliso Viejo, CA USA
[7] GeneDx Inc, Gaithersburg, MD USA
[8] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
[9] Med Coll Wisconsin, Dept Pathol & Lab Med, Milwaukee, WI USA
[10] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN USA
[11] Amer Coll Med Genet & Genom, Bethesda, MD USA
来源：
GENETICS IN MEDICINE | 2023年 / 25卷 / 05期
关键词：
Autopsy; Consent; Exome sequencing; Gene panels; Genome sequencing; JOINT CONSENSUS RECOMMENDATION; MOLECULAR AUTOPSY; DEATH; STANDARDS; VARIANTS;
D O I：
10.1016/j.gim.2023.100017
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页数：5
相关论文
共 21 条
  • [1] ACMG STATEMENT Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
    Matalon, Dena R.
    Zepeda-Mendoza, Cinthya J.
    Aarabi, Mahmoud
    Brown, Kaitlyn
    Fullerton, Stephanie M.
    Kaur, Shagun
    Quintero-Rivera, Fabiola
    Vatta, Matteo
    GENETICS IN MEDICINE, 2023, 25 (06)
  • [2] Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
    Raca, Gordana
    Astbury, Caroline
    Behlmann, Andrea
    De Castro, Mauricio J.
    E. Hickey, Scott
    Karaca, Ender
    Lowther, Chelsea
    Rooney Riggs, Erin
    A. Seifert, Bryce
    C. Thorland, Erik
    Deignan, Joshua L.
    GENETICS IN MEDICINE, 2023, 25 (02)
  • [3] Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
    Deignan, Joshua L.
    Chung, Wendy K.
    Kearney, Hutton M.
    Monaghan, Kristin G.
    Rehder, Catherine W.
    Chao, Elizabeth C.
    GENETICS IN MEDICINE, 2019, 21 (06) : 1267 - 1270
  • [4] Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)
    Deignan, Joshua L.
    Chao, Elizabeth
    Gannon, Jennifer L.
    Greely, Henry T.
    Hagman, Kelly D. Farwell
    Mao, Rong
    Topper, Scott
    GENETICS IN MEDICINE, 2020, 22 (08) : 1285 - 1287
  • [5] The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
    Monaghan, Kristin G.
    Leach, Natalia T.
    Pekarek, Dawn
    Prasad, Priya
    Rose, Nancy C.
    GENETICS IN MEDICINE, 2020, 22 (04) : 675 - 680
  • [6] Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
    Deignan, Joshua L.
    Gregg, Anthony R.
    Grody, Wayne W.
    Guo, Michael H.
    Kearney, Hutton
    Monaghan, Kristin G.
    Raraigh, Karen S.
    Taylor, Jennifer
    Zepeda-Mendoza, Cinthya J.
    GENETICS IN MEDICINE, 2023, 25 (08)
  • [7] Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
    Guha, Saurav
    Reddi, Honey, V
    Aarabi, Mahmoud
    DiStefano, Marina
    Wakeling, Erin
    Dungan, Jeffrey S.
    Gregg, Anthony R.
    GENETICS IN MEDICINE, 2024, 26 (07)
  • [8] ACMG SF v3.2 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)
    Miller, David T.
    Lee, Kristy
    Abul-Husn, Noura S.
    Amendola, Laura M.
    Brothers, Kyle
    Chung, Wendy K.
    Gollob, Michael H.
    Gordon, Adam S.
    Harrison, Steven M.
    Hershberger, Ray E.
    Klein, Teri E.
    Richards, C. Sue
    Stewart, Douglas R.
    Martin, C. L.
    GENETICS IN MEDICINE, 2023, 25 (08)
  • [9] 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)
    Miller, David T.
    Lee, Kristy
    Abul-Husn, Noura S.
    Amendla, Laura M.
    Brothers, Kyle
    Chung, Wendy K.
    Gollob, Michael H.
    Gordon, Adam S.
    Harrison, Steven M.
    Hershberger, Ray E.
    Klein, Teri E.
    Richards, Carolyn Sue
    Stewart, Douglas R.
    Martin, Christa Lese
    GENETICS IN MEDICINE, 2022, 24 (07) : 1407 - 1414
  • [10] Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
    Li, Marilyn M.
    Abou Tayoun, Ahmad
    DiStefano, Marina
    Pandya, Arti
    Rehm, Heidi L.
    Robin, Nathaniel H.
    Schaefer, Amanda M.
    Yoshinaga-Itano, Christine
    GENETICS IN MEDICINE, 2022, 24 (07) : 1392 - 1406
123