Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

被引：18

作者：

Slavotinek, Anne ^{[1
,2
]}

Rego, Shannon ^{[1
,2
]}

Sahin-Hodoglugil, Nuriye ^{[2
]}

Kvale, Mark ^{[2
,3
]}

Lianoglou, Billie ^{[4
]}

Yip, Tiffany ^{[1
,2
]}

Hoban, Hannah ^{[1
]}

Outram, Simon ^{[5
]}

Anguiano, Beatrice ^{[2
,5
]}

Chen, Flavia ^{[2
]}

Michelson, Jeremy ^{[6
]}

Cilio, Roberta M. ^{[7
]}

Curry, Cynthia ^{[8
]}

Gallagher, Renata C. ^{[1
,2
]}

Gardner, Marisa ^{[9
]}

Kuperman, Rachel ^{[9
,10
]}

Mendelsohn, Bryce ^{[11
]}

Sherr, Elliott ^{[12
]}

Shieh, Joseph ^{[1
,2
]}

Strober, Jonathan ^{[12
]}

Tam, Allison ^{[1
]}

Tenney, Jessica ^{[1
]}

Weiss, William ^{[13
]}

Whittle, Amy ^{[14
]}

Chin, Garrett ^{[2
]}

Faubel, Amanda ^{[4
]}

Prasad, Hannah ^{[2
]}

Mavura, Yusuph ^{[2
,3
]}

Van Ziffle, Jessica ^{[15
]}

Devine, W. Patrick ^{[15
]}

Hodoglugil, Ugur ^{[16
]}

Martin, Pierre-Marie ^{[2
]}

Sparks, Teresa N. ^{[2
,17
]}

Koenig, Barbara ^{[2
,18
]}

Ackerman, Sara ^{[5
,19
]}

Risch, Neil ^{[2
,3
]}

Kwok, Pui-Yan ^{[20
]}

Norton, Mary E. ^{[2
,17
]}

机构：

[1] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

[2] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA

[3] Univ Calif San Francisco, Dept Epidemiol Biostati, San Francisco, CA USA

[4] Univ Calif San Francisco, Dept Surg, San Francisco, CA USA

[5] Univ Calif San Francisco, Inst Hlth Aging, Sch Nursing, San Francisco, CA USA

[6] Columbia Univ, Inst Human Nutr, Med Ctr, Columbia, MO USA

[7] Univ Louvain, Div Pediat Neurol, Dept Pediat, Brussels, Belgium

[8] Univ Calif San Francisco, Genet Med, San Francisco, CA USA

[9] UCSF Benioff Childrens Hosp Oakland, Dept Neurol, Oakland, CA USA

[10] Eysz Inc, Piedmont, CA USA

[11] Kaiser Permanente Oakland Med Ctr, Div Genet, Oakland, CA USA

[12] Univ Calif San Francisco, Dept Neurol, Div Child Neurol, San Francisco, CA USA

[13] Zuckerberg San Francisco Gen Hosp, Div Child Neurol, San Francisco, CA USA

[14] Zuckerberg San Francisco Gen Hosp, Div Pediat, San Francisco, CA USA

[15] Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA

[16] Univ Calif San Francisco, Gen Med Lab, San Francisco, CA USA

[17] Dept Obstet Gynecol & Reprod Sci, Div Maternal Fetal Med, San Francisco, CA USA

[18] Univ Calif San Francisco, Program Bioeth, San Francisco, CA USA

[19] Univ Calif San Francisco, Sch Nursing, Dept Social & Behav Sci, San Francisco, CA USA

[20] Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA USA

来源：

NPJ GENOMIC MEDICINE | 2023年 / 8卷 / 01期

基金：

美国国家卫生研究院;

关键词：

MEDICAL GENETICS; GENOMICS;

D O I：

10.1038/s41525-023-00353-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal patients suspected to have a genetic disorder. Eligible pediatric patients had multiple congenital anomalies and/or neurocognitive disabilities and prenatal patients had one or more structural anomalies, disorders of fetal growth, or fetal effusions. URM and US patients were prioritized for enrollment and underwent ES at a single academic center. We identified definitive positive or probable positive results in 201/845 (23.8%) patients, with a significantly higher diagnostic rate in pediatric (26.7%) compared to prenatal patients (19.0%) (P=0.01). For both pediatric and prenatal patients, the diagnostic yield and frequency of inconclusive findings did not differ significantly between URM and non-URM patients or between patients with US status and those without US status. Our results demonstrate a similar diagnostic yield of ES between prenatal and pediatric URM/US patients and non-URM/US patients for positive and inconclusive results. These data support the use of ES to identify clinically relevant variants in patients from diverse populations.

引用

页数：10

共 50 条

[1] Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Anne Slavotinek
Shannon Rego
Nuriye Sahin-Hodoglugil
Mark Kvale
Billie Lianoglou
Tiffany Yip
Hannah Hoban
Simon Outram
Beatrice Anguiano
Flavia Chen
Jeremy Michelson
Roberta M. Cilio
Cynthia Curry
Renata C. Gallagher
Marisa Gardner
Rachel Kuperman
Bryce Mendelsohn
Elliott Sherr
Joseph Shieh
Jonathan Strober
Allison Tam
Jessica Tenney
William Weiss
Amy Whittle
Garrett Chin
Amanda Faubel
Hannah Prasad
Yusuph Mavura
Jessica Van Ziffle
W. Patrick Devine
Ugur Hodoglugil
Pierre-Marie Martin
Teresa N. Sparks
Barbara Koenig
Sara Ackerman
Neil Risch
Pui-Yan Kwok
Mary E. Norton
[J]. npj Genomic Medicine, 8
[2] Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
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Nuriye Sahin-Hodoglugil
Ugur Hodoglugil
Mark Kvale
Pierre-Marie Martin
Jessica Van Ziffle
W. Patrick Devine
Sara L. Ackerman
Barbara A. Koenig
Pui-Yan Kwok
Mary E. Norton
Anne Slavotinek
Neil Risch
[J]. npj Genomic Medicine, 9
[3] Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
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[J]. NPJ GENOMIC MEDICINE, 2024, 9 (01)
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[8] Beyond diagnostic yield: use of exome sequencing in prenatal diagnosis Reply
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[9] The diagnostic yield of exome sequencing in the prenatal setting: A clinical laboratory experience
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[10] The diagnostic yield provided by prenatal-exome sequencing in fetal abnormality
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