Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective

被引：11

作者：

Wells, Constance F. ^{[1
]}

Boursier, Guilaine ^{[1
]}

Yauy, Kevin ^{[1
,2
,3
]}

Ruiz-Pallares, Nathalie ^{[1
]}

Mechin, Deborah ^{[1
]}

Ruault, Valentin ^{[1
]}

Tharreau, Mylene ^{[1
]}

Blanchet, Patricia ^{[1
]}

Pinson, Lucile ^{[1
]}

Coubes, Christine ^{[1
]}

Fila, Marc ^{[4
]}

Baleine, Julien ^{[5
]}

Pidoux, Odile ^{[5
]}

Badr, Maliha ^{[5
]}

Milesi, Christophe ^{[5
]}

Cambonie, Gilles ^{[5
]}

Mesnage, Renaud ^{[5
]}

Dereure, Maelle ^{[6
]}

Ardouin, Olivier ^{[7
]}

Guignard, Thomas ^{[8
]}

Genevieve, David ^{[1
]}

Barat-Houari, Mouna ^{[1
]}

Willems, Marjolaine ^{[1
,9
,10
]}

机构：

[1] Univ Montpellier, Dept Med Genet Rare Dis & Personalized Med, CHU Montpellier, Montpellier, France

[2] Inst Adv Biosci, Ctr Rech UGA, Inserm U 1209, CNRS UMR 5309, Grenoble, France

[3] SegOne Genom, Montpellier, France

[4] Montpellier Univ Hosp, Pediat Nephrol Dept, Montpellier, France

[5] Montpellier Univ Hosp, Dept Neonatal Med & Pediat Intens Care, Montpellier, France

[6] Montpellier Univ Hosp, Clin Res & Epidemiol Dept, Montpellier, France

[7] Montpellier Univ Hosp, Mol Med & Genom Platform, Montpellier, France

[8] Montpellier Univ Hosp, Unit Chromosomal Genet & Res Plateform Chromostem, Montpellier, France

[9] Univ Montpellier, CHU Montpellier, Inserm U1298, INM, Montpellier, France

[10] OSCAR Network, Reference Ctr AD SOOR, AnDDI RARE, Competence Ctr Rare Skeletal Disorders, Montpellier, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / 09期

关键词：

WHOLE-GENOME;

D O I：

10.1038/s41431-022-01133-7

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The primary outcome was the time from blood sampling to rapid exome sequencing report to parents. All results were available within 16 days and were reported to parents in or under 16 days in 13 of the 15 individuals (86%). Six individuals (40%) received a diagnosis with rES, two had a genetic condition not diagnosed by rES. Eight individuals had their care impacted by their rES results, four were discharged or died before the results. This small-scale study shows that rES can be implemented in a regional University hospital with rapid impactful diagnosis to improve care in critically ill infants.

引用

页码：1076 / 1082

页数：7

共 20 条

[1] Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
Constance F. Wells
Guilaine Boursier
Kevin Yauy
Nathalie Ruiz-Pallares
Déborah Mechin
Valentin Ruault
Mylène Tharreau
Patricia Blanchet
Lucile Pinson
Christine Coubes
Marc Fila
Julien Baleine
Odile Pidoux
Maliha Badr
Christophe Milesi
Gilles Cambonie
Renaud Mesnage
Maëlle Dereure
Olivier Ardouin
Thomas Guignard
David Geneviève
Mouna Barat-Houari
Marjolaine Willems
European Journal of Human Genetics, 2022, 30 : 1076 - 1082
[2] Rapid whole-exome sequencing (WES) in the critically ill infants hospitalized in the intensive care units
Biela, M.
Szmyd, K.
Bloch, M.
Szmida, E.
Walczak, A.
Kostrzewa, G.
Kosinska, J.
Rydzanicz, M.
Stawinski, P.
Biernacka, A.
Sasiadek, M. M.
Ploski, R.
Smigiel, R.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 178 - 178
[3] Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children's Hospital of Michigan
Hicks, Melissa
Kaur, Shagun
Conway, Robert
Pappas, Kara
Sen, Kuntal
MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S111 - S112
[4] Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease
Hays, Thomas
Hernan, Rebecca
Disco, Michele
Griffin, Emily L.
Goldshtrom, Nimrod
Vargas, Diana
Krishnamurthy, Ganga
Bomback, Miles
Rehman, Atteeq U.
Wilson, Amanda T.
Guha, Saurav
Phadke, Shruti
Okur, Volkan
Robinson, Dino
Felice, Vanessa
Abhyankar, Avinash
Jobanputra, Vaidehi
Chung, Wendy K.
CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2023, 16 (05): : 415 - 420
[5] Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants
Wang, Huijun
Qian, Yanyan
Lu, Yulan
Qin, Qian
Lu, Guoping
Cheng, Guoqiang
Zhang, Ping
Yang, Lin
Wu, Bingbing
Zhou, Wenhao
NPJ GENOMIC MEDICINE, 2020, 5 (01)
[6] Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants
Huijun Wang
Yanyan Qian
Yulan Lu
Qian Qin
Guoping Lu
Guoqiang Cheng
Ping Zhang
Lin Yang
Bingbing Wu
Wenhao Zhou
npj Genomic Medicine, 5
[7] Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Lunke, Sebastian
Eggers, Stefanie
Wilson, Meredith
Patel, Chirag
Barnett, Christopher P.
Pinner, Jason
Sandaradura, Sarah A.
Buckley, Michael F.
Krzesinski, Emma I.
de Silva, Michelle G.
Brett, Gemma R.
Boggs, Kirsten
Mowat, David
Kirk, Edwin P.
Ades, Lesley C.
Akesson, Lauren S.
Amor, David J.
Ayres, Samantha
Baxendale, Anne
Borrie, Sarah
Bray, Alessandra
Brown, Natasha J.
Chan, Cheng Yee
Chong, Belinda
Cliffe, Corrina
Delatycki, Martin B.
Edwards, Matthew
Elakis, George
Fahey, Michael C.
Fennell, Andrew
Fowles, Lindsay
Gallacher, Lyndon
Higgins, Megan
Howell, Katherine B.
Hunt, Lauren
Hunter, Matthew F.
Jones, Kristi J.
King, Sarah
Kumble, Smitha
Lang, Sarah
Le Moing, Maelle
Ma, Alan
Phelan, Dean
Quinn, Michael C. J.
Richards, Anna
Richmond, Christopher M.
Riseley, Jessica
Rodgers, Jonathan
Sachdev, Rani
Sadedin, Simon
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2020, 323 (24): : 2503 - 2511
[8] Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Lunke, Sebastian
Eggers, Stefanie
Wilson, Meredith
Patel, Chirag
Barnett, Christopher P.
Pinner, Jason
Sandaradura, Sarah A.
Buckley, Michael F.
Krzesinski, Emma I.
de Silva, Michelle G.
Brett, Gemma R.
Boggs, Kirsten
Mowat, David
Kirk, Edwin P.
Ades, Lesley C.
Akesson, Lauren S.
Amor, David J.
Ayres, Samantha
Baxendale, Anne
Borrie, Sarah
Bray, Alessandra
Brown, Natasha J.
Chan, Cheng Yee
Chong, Belinda
Cliffe, Corrina
Delatycki, Martin B.
Edwards, Matthew
Elakis, George
Fahey, Michael C.
Fennell, Andrew
Fowles, Lindsay
Gallacher, Lyndon
Higgins, Megan
Howell, Katherine B.
Hunt, Lauren
Hunter, Matthew F.
Jones, Kristi J.
King, Sarah
Kumble, Smitha
Lang, Sarah
Le Moing, Maelle
Ma, Alan
Phelan, Dean
Quinn, Michael C. J.
Richards, Anna
Richmond, Christopher M.
Riseley, Jessica
Rodgers, Jonathan
Sachdev, Rani
Sadedin, Simon
OBSTETRICAL & GYNECOLOGICAL SURVEY, 2020, 75 (11) : 662 - 664
[9] Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey
Guner Yilmaz, Bengisu
Akgun-Dogan, Ozlem
Ozdemir, Ozkan
Yuksel, Bayram
Hatirnaz Ng, Ozden
Bilguvar, Kaya
Ay, Beril
Ozkose, Gulsah Sebnem
Aydin, Eylul
Yigit, Ayca
Bulut, Aybike
Esen, Fatma Nisa
Beken, Serdar
Aktas, Selma
Demirel, Atalay
Arcagok, Baran Cengiz
Kazanci, Ebru
Bingol, Ibrahim
Umur, Ozge
Sik, Guntulu
Isik, Ugur
Ersoy, Melike
Korkmaz, Ayse
Citak, Agop
Mardinoglu, Adil
Ozbek, Ugur
Alanay, Yasemin
FRONTIERS IN PEDIATRICS, 2024, 12
[10] Rapid Exome and Genome Sequencing in Critically Ill Patients: 3-year Experience From A Single Center
Sen, K.
Kaur, S.
Pappas, K.
Conway, R.
Hicks, M.
ANNALS OF NEUROLOGY, 2021, 90 : S51 - S52

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