2023,
Genetics in Medicine.
DOI:
10.1016/j.gim.2023.101012
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Taila Hartley, Deborah Marshall, Meryl Acker, Katharine Fooks, Meredith K. Gillespie, E. Magda Price, Ian D. Graham, Alexandre White-Brown, Layla MacKay, Stella K. Macdonald, Lauren Brady, Angela Y. Hui, Joseph D. Andrews, Ashfia Chowdhury, Erika Wall, Élisabeth Soubry, Grace U. Ediae, Samantha Rojas, Daniel Assamad, David Dyment, Mark Tarnopolsky, Sarah L. Sawyer, Caitlin Chisholm, Gabrielle Lemire, Kimberly Amburgey, Joanna Lazier, Roberto Mendoza-Londono, James J. Dowling, Tugce B. Balci, Christine M. Armour, Priya T. Bhola, Gregory Costain, Lucie Dupuis, Melissa Carter, Lauren Badalato, Julie Richer, Christie Boswell-Patterson, Peter Kannu, Dawn Cordeiro, Jodi Warman-Chardon, Gail Graham, Victoria Mok Siu, Cheryl Cytrynbaum, Alison Rusnak, Ritu B. Aul, Grace Yoon, Hernan Gonorazky, Vanda McNiven, Saadet Mercimek-Andrews, Andrea Guerin, Ashish R. Deshwar, Ashish Marwaha, Rosanna Weksberg, Natalya Karp, Maggie Campbell, Sarah Al-Qattan, Andrew Y. Shuen, Michal Inbar-Feigenberg, Ronald Cohn, Anna Szuto, Cara Inglese, Myriam Poirier, Lauren Chad, Beth Potter, Kym M. Boycott, Robin Hayeems, Kym Boycott, Michael Brudno, Francois Bernier, Clara van Karnebeek, David Dyment, Kristin Kernohan, Micheil Innes, Ryan Lamont, Jillian Parboosingh, Deborah Marshall, Christian Marshall, Roberto Mendoza, James Dowling, Robin Hayeems, Bartha Knoppers, Anna Lehman, Sara Mostafavi
Abstract:
No abstract available.
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2024-02-29 23:29:00
半面阳光:
#paper DOI:https://doi.org/10.1016/j.gim.2023.101012, Genetics in Medicine, 2023, Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study. 这篇文章是一篇前瞻性研究，文章探索的主题是评估公共资助的临床外显子测序（ES）对疑似罕见遗传疾病患者的诊断效用。在研究中，招募了297例符合纳入检测标准的罕见病先证者样本，获取了其诊疗记录。通过 Fryback 和 Thornbury效能评价体系对这些样本全外显子检测结果的实验室注释解读、对临床解读结果的临床诊断考量、以及其他可替代的分子诊断是否可以替代ES进行了评估。结果显示，实验室报告了105例分子诊断结果、165例不确定结果和新发基因。105例报告结果中，临床医生解读了102例，165例不确定结果中，解读了6例；共计得出108例（分布在104个家系中）的临床分子诊断结果。每项效能评价标准的诊断产出在30%~40%。其他可替代的分子诊断为61%。这一研究证明了纳入检测标准的稳健，同时证明了实验室ES检测结果的高临床有效性。利用ES检测检出了40%本来存在漏检风险的样本，进而凸显了临床全外显子检测的价值。