Evidence map›Paper›PMID 36993157›Full record

ArticlemedRxiv : the preprint server for health sciences2023

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

Noura S Abul-Husn, Priya N Marathe, Nicole R Kelly, Katherine E Bonini, Monisha Sebastin, Jacqueline A Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie M Gallagher and 17 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 7 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors at 7 institutions in 1 country.

Noura S Abul-HusnInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Priya N MaratheInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nicole R KellyDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Katherine E BoniniInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Monisha SebastinDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Jacqueline A OdgisInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Avinash AbhyankarMolecular Diagnostics, New York Genome Center, New York, NY, USA.
Kaitlyn BrownDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Miranda Di BiaseDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Katie M GallagherDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Saurav GuhaMolecular Diagnostics, New York Genome Center, New York, NY, USA.
Nicolette IoeleDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Volkan OkurMolecular Diagnostics, New York Genome Center, New York, NY, USA.
Michelle A RamosDepartment of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jessica E RodriguezInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Atteeq U RehmanMolecular Diagnostics, New York Genome Center, New York, NY, USA.
Amanda Thomas-WilsonMolecular Diagnostics, New York Genome Center, New York, NY, USA.
Lisa EdelmannSema4, Stamford, Connecticut, USA.
Randi E ZinbergDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
George A DiazDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
John M GreallyDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Vaidehi JobanputraMolecular Diagnostics, New York Genome Center, New York, NY, USA.
Sabrina A SuckielInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Carol R HorowitzDepartment of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Melissa P WassersteinDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/ Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bruce D GelbDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Albert Einstein College of Medicine · USGenomic Health (United States) · USNew York Genome Center · USIcahn School of Medicine at Mount Sinai · USChild Health and Development Institute · USColumbia University Irving Medical Center · USSema4 (United States) · US

Funding

Incorporating genomics into the clinical care of diverse NYC childrenU01HG009610 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D, HOROWITZ, CAROL R · 2017 to 2021
$17.0M
NHGRI NIH HHS U01 HG009610
6 · The paper itself

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

Identifiers

PMID36993157
PMCPMC10055570
OpenAlexW4327915061

What OpenQuestion holds

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LicenceCC BY-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.