Dataset Information

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

ABSTRACT:

Purpose

Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions.

Methods

Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired study design.

Results

645 probands (median age 9 years) underwent genetic testing, and 113 (17.5%) received a molecular diagnosis. Among 642 probands with both GS and TGP testing, GS yielded 106 (16.5%) and TGPs yielded 52 (8.1%) diagnoses ( P < .001). Yield was greater for GS vs . TGPs in Hispanic/Latino(a) (17.2% vs . 9.5%, P < .001) and White/European American (19.8% vs . 7.9%, P < .001), but not in Black/African American (11.5% vs . 7.7%, P = .22) population groups by self-report. A higher rate of inconclusive results was seen in the Black/African American (63.8%) vs . White/European American (47.6%; P = .01) population group. Most causal copy number variants (17 of 19) and mosaic variants (6 of 8) were detected only by GS.

Conclusion

GS may yield up to twice as many diagnoses in pediatric patients compared to TGP testing, but not yet across all population groups.

SUBMITTER: Abul-Husn NS

PROVIDER: S-EPMC10055570 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Publications

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn Noura S NS Marathe Priya N PN Kelly Nicole R NR Bonini Katherine E KE Sebastin Monisha M Odgis Jacqueline A JA Abhyankar Avinash A Brown Kaitlyn K Di Biase Miranda M Gallagher Katie M KM Guha Saurav S Ioele Nicolette N Okur Volkan V Ramos Michelle A MA Rodriguez Jessica E JE Rehman Atteeq U AU Thomas-Wilson Amanda A Edelmann Lisa L Zinberg Randi E RE Diaz George A GA Greally John M JM Jobanputra Vaidehi V Suckiel Sabrina A SA Horowitz Carol R CR Wasserstein Melissa P MP Kenny Eimear E EE Gelb Bruce D BD

medRxiv : the preprint server for health sciences 20230320

<h4>Purpose</h4>Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions.<h4>Methods</h4>Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired study design.<h4>Results</h4>645 probands (median age 9 years) underwent genetic testing, ...[more]

PMID: 36993157

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Dataset Information

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Purpose

Methods

Results

Conclusion

Publications

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

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