Collaborative efforts to improve genetic testing in the neonatal intensive care unit

被引：3

作者：

Schuler, Bryce A. ^{[1
]}

Mosera, Mackenzie ^{[1
]}

Hatch, L. Dupree ^{[1
]}

Grochowsky, Angela ^{[1
]}

Wheeler, Ferrin ^{[2
]}

机构：

[1] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA

[2] Vanderbilt Univ, Med Ctr, Dept Pathol, Nashville, TN USA

来源：

JOURNAL OF PERINATOLOGY | 2023年 / 43卷 / 12期

关键词：

ILL INFANTS; MICROARRAY; UTILITY; COSTS;

D O I：

10.1038/s41372-023-01817-y

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To reduce unnecessary simultaneous karyotype analysis and chromosomal microarray (CMA) testing in the neonatal intensive care unit (NICU).Study design: This quality improvement study investigated the effect of collaborative efforts between the NICU, cytogenetics, and clinical genetics on numbers of genetic tests, rates of abnormal tests, and number of genetics consults comparing baseline and 5-month intervention periods.Results: Simultaneous karyotype analyses and CMAs decreased due to a decrease in karyotype testing (11.3% [68/600] vs. 0.98% [6/614], p < 0.01). Karyotype analyses were more likely to be abnormal (13.8% [12/87] vs. 64.0% [16/25], p < 0.01). Frequency of genetics consultation did not change (7.0% [42/600] vs. 9.4% [58/614], p = 0.12).Conclusion: Collaborative efforts between the NICU, cytogenetics, and clinical genetics decreased redundant genetic testing, which demonstrated potential cost savings to our institution. Ongoing collaborative efforts could facilitate genetic testing practices in the NICU that readily evolve in tandem with genetic testing recommendations.

引用

页码：1500 / 1505

页数：6

共 24 条

[1]

[Anonymous], 2018, CIRCULATION, V138, P713

[2] Genetic abnormalities and pregnancy loss [J].

Blue, Nathan R. ;

Page, Jessica M. ;

Silver, Robert M. .

SEMINARS IN PERINATOLOGY, 2019, 43 (02) :66-73

[3]

Cicatiello Rita, 2019, Med Sci (Basel), V7, DOI 10.3390/medsci7030040

[4] Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care [J].

Dimmock, David ;

Caylor, Sara ;

Waldman, Bryce ;

Benson, Wendy ;

Ashburner, Christina ;

Carmichael, Jason L. ;

Carroll, Jeanne ;

Cham, Elaine ;

Chowdhury, Shimul ;

Cleary, John ;

D'Harlingue, Arthur ;

Doshi, A. ;

Ellsworth, Katarzyna ;

Galarreta, Carolina, I ;

Hobbs, Charlotte ;

Houtchens, Kathleen ;

Hunt, Juliette ;

Joe, Priscilla ;

Joseph, Maries ;

Kaplan, Robert H. ;

Kingsmore, Stephen F. ;

Knight, Jason ;

Kochhar, Aaina ;

Kronick, Richard G. ;

Limon, Jolie ;

Martin, Madelena ;

Rauen, Katherine A. ;

Schwarz, Adam ;

Shankar, Suma P. ;

Spicer, Rosanna ;

Rojas, Mario Augusto ;

Vargas-Shiraishi, Ofelia ;

Wigby, Kristen ;

Zadeh, Neda ;

Farnaes, Lauge .

AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (07) :1231-1238

[5] An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm [J].

Dimmock, David P. ;

Clark, Michelle M. ;

Gaughran, Mary ;

Cakici, Julie A. ;

Caylor, Sara A. ;

Clarke, Christina ;

Feddock, Michele ;

Chowdhury, Shimul ;

Salz, Lisa ;

Cheung, Cynthia ;

Bird, Lynne M. ;

Hobbs, Charlotte ;

Wigby, Kristen ;

Farnaes, Lauge ;

Bloss, Cinnamon S. ;

Kingsmore, Stephen F. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (05) :942-952

[6] The Impact of Rapid Exome Sequencing on Medical Management of Critically III Children [J].

Freed, Amanda S. ;

Candadai, Sarah V. Clowes ;

Sikes, Megan C. ;

Thies, Jenny ;

Byers, Heather M. ;

Dines, Jennifer N. ;

Ndugga-Kabuye, Mesaki Kenneth ;

Smith, Mallory B. ;

Fogus, Katie ;

Mefford, Heather C. ;

Lam, Christina ;

Adam, Margaret P. ;

Sun, Angela ;

McGuire, John K. ;

DiGeronimo, Robert ;

Dipple, Katrina M. ;

Deutsch, Gail H. ;

Billimoria, Zeenia C. ;

Bennett, James T. .

JOURNAL OF PEDIATRICS, 2020, 226 :202-+

[7] Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children [J].

French, Courtney E. ;

Delon, Isabelle ;

Dolling, Helen ;

Sanchis-Juan, Alba ;

Shamardina, Olga ;

Megy, Karyn ;

Abbs, Stephen ;

Austin, Topun ;

Bowdin, Sarah ;

Branco, Ricardo G. ;

Firth, Helen ;

Rowitch, David H. ;

Raymond, F. Lucy ;

Tuna, Salih ;

Aitman, Timothy J. ;

Ashford, Sofie ;

Astle, Willian J. ;

Bennet, David L. ;

Bleda, Marta ;

Carss, Keren J. ;

Chinnery, Patrick F. ;

Deevi, Sri V. V. ;

Fletcher, Debra ;

Gale, Daniel P. ;

Graf, Stefan F. ;

Hu, Fengyuan ;

James, Roger ;

Kasanicki, Mary A. ;

Kingston, Nathalie ;

Koziell, Ania B. ;

Allen, Hana Lango ;

Maher, Eamonn R. ;

Markus, Hugh S. ;

Meacham, Stuart ;

Morrell, Nicholas W. ;

Penkett, Christopher J. ;

Roberts, Irene ;

Sanchis-Juan, Alba ;

Smith, Kenneth G. C. ;

Stark, Hannah ;

Stirrups, Kathleen E. ;

Turro, Ernest ;

Watkins, Hugh ;

Williamson, Catherine ;

Young, Timothy ;

Bradley, John R. ;

Ouwehand, Willem H. ;

Raymond, F. Lucy ;

Agrawal, Shruti ;

Armstrong, Ruth .

INTENSIVE CARE MEDICINE, 2019, 45 (05) :627-636

[8] Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities [J].

Fu, F. ;

Li, R. ;

Li, Y. ;

Nie, Z. -Q. ;

Lei, T. ;

Wang, D. ;

Yang, X. ;

Han, J. ;

Pan, M. ;

Zhen, L. ;

Ou, Y. ;

Li, J. ;

Li, F. -T. ;

Jing, X. ;

Li, D. ;

Liao, C. .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2018, 51 (04) :493-502

[9] Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease [J].

Geddes, Gabrielle C. ;

Basel, Donald ;

Frommelt, Peter ;

Kinney, Aaron ;

Earing, Michael .

PEDIATRIC CARDIOLOGY, 2017, 38 (07) :1465-1470

[10] Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield [J].

Gubbels, Cynthia S. ;

VanNoy, Grace E. ;

Madden, Jill A. ;

Copenheaver, Deborah ;

Yang, Sandra ;

Wojcik, Monica H. ;

Gold, Nina B. ;

Genetti, Casie A. ;

Stoler, Joan ;

Parad, Richard B. ;

Roumiantsev, Sergei ;

Bodamer, Olaf ;

Beggs, Alan H. ;

Juusola, Jane ;

Agrawal, Pankaj B. ;

Yu, Timothy W. .

GENETICS IN MEDICINE, 2020, 22 (04) :736-744

← 1 2 3 →