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
  • [11] Consideration of disease penetrance in the selection of secondary fi ndings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
    Gordon, Adam S.
    Lee, Kristy
    Abul-Husn, Noura S.
    Amendola, Laura M.
    Brothers, Kyle
    Chung, Wendy K.
    Gollob, Michael H.
    Harrison, Steven M.
    Hershberger, Ray E.
    Richards, C. Sue
    Stewart, Douglas R.
    Martin, Christa Lese
    Miller, David T.
    GENETICS IN MEDICINE, 2024, 26 (07)
  • [12] Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)
    Cherry, Athena M.
    Akkari, Yassmine M.
    Barr, Kimberly M.
    Kearney, Hutton M.
    Rose, Nancy C.
    South, Sarah T.
    Tepperberg, James H.
    Meck, Jeanne M.
    GENETICS IN MEDICINE, 2017, 19 (08) : 845 - 850
  • [13] Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
    Kalia, Sarah S.
    Adelman, Kathy
    Bale, Sherri J.
    Chung, Wendy K.
    Eng, Christine
    Evans, James P.
    Herman, Gail E.
    Hufnagel, Sophia B.
    Klein, Teri E.
    Korf, Bruce R.
    McKelvey, Kent D.
    Ormond, Kelly E.
    Richards, C. Sue
    Vlangos, Christopher N.
    Watson, Michael
    Martin, Christa L.
    Miller, David T.
    GENETICS IN MEDICINE, 2017, 19 (02) : 249 - 255
  • [14] Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG)
    Bean, Lora J. H.
    Funke, Birgit
    Carlston, Colleen M.
    Gannon, Jennifer L.
    Kantarci, Sibel
    Krock, Bryan L.
    Zhang, Shulin
    Bayrak-Toydemir, Pinar
    GENETICS IN MEDICINE, 2020, 22 (03) : 453 - 461
  • [15] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
    Rehder, Catherine
    Bean, Lora J. H.
    Bick, David
    Chao, Elizabeth
    Chung, Wendy
    Das, Soma
    O'Daniel, Julianne
    Rehm, Heidi
    Shashi, Vandana
    Vincent, Lisa M.
    GENETICS IN MEDICINE, 2021, 23 (08) : 1399 - 1415
  • [16] Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
    Shao, Lina
    Akkari, Yassmine
    Cooley, Linda D.
    Miller, David T.
    Seifert, Bryce A.
    Wolff, Daynna J.
    Mikhail, Fady M.
    GENETICS IN MEDICINE, 2021, 23 (10) : 1818 - 1829
  • [17] Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing
    Goh, Elaine Suk-Ying
    Chad, Lauren
    Richer, Julie
    Bombard, Yvonne
    Mighton, Chloe
    Agatep, Ron
    Lacaria, Melanie
    Penny, Blaine
    Thomas, Mary Ann
    Zawati, Ma'n H.
    MacFarlane, Julie
    Laberge, Anne-Marie
    Nelson, Tanya N.
    JOURNAL OF MEDICAL GENETICS, 2024,
  • [18] Variant Interpretation for Dilated Cardiomyopathy Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study
    Morales, Ana
    Kinnamon, Daniel D.
    Jordan, Elizabeth
    Platt, Julia
    Vatta, Matteo
    Dorschner, Michael O.
    Starkey, Carl A.
    Mead, Jonathan O.
    Ai, Tomohiko
    Burke, Wylie
    Gastier-Foster, Julie
    Jarvik, Gail P.
    Rehm, Heidi L.
    Nickerson, Deborah A.
    Hershberger, Ray E.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (02): : E002480
  • [19] Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory
    Drackley, Andy
    Brew, Casey
    Wlodaver, Alissa
    Spencer, Sara
    Leuer, Katrin
    Rathbun, Pamela
    Charrow, Joel
    Wieneke, Xuwen
    Yap, Kai Lee
    Ing, Alexander
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (10) : 1100 - 1111
  • [20] Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome Proposal for a Disease- and Gene-Specific Guideline
    Muino-Mosquera, Laura
    Steijns, Felke
    Audenaert, Tjorven
    Meerschaut, Ilse
    De Paepe, Anne
    Steyaert, Wouter
    Symoens, Sofie
    Coucke, Paul
    Callewaert, Bert
    Renard, Marjolijn
    De Backer, Julie
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2018, 11 (06): : e002039
123