Evidence map›Paper›PMID 38431799›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024

Improving access to exome sequencing in a medically underserved population through the Texome Project.

Blake Vuocolo, Ryan J German, Seema R Lalani, Chaya N Murali, Carlos A Bacino, Stephanie Baskin, Rebecca Littlejohn, John D Odom, Scott McLean, Carrie Schmid and 22 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.7field-weighted citation impact, top 17% of its field
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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

32 authors at 5 institutions in 1 country.

Blake VuocoloDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.
Ryan J GermanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Chaya N MuraliDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Carlos A BacinoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Stephanie BaskinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Rebecca LittlejohnDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
John D OdomDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Scott McLeanDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Carrie SchmidDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Morgan NutterDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Melissa StuebbenDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Emily MagnessDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Olivia JuarezDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Dina El AchiDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Bailey MitchellDepartment of Pediatrics, Baylor College of Medicine, San Antonio, TX.
Kevin E GlintonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Laurie RobakDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Sandesh C S NagamaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital Department of Pathology, Houston, TX.
Lisa SabaTexas Children's Hospital Department of Pathology, Houston, TX.
Adasia RitenourDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Lilei ZhangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Haley StreffDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital Department of Pathology, Houston, TX.
Katie ChanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
K Jordan KemereDepartment of Internal Medicine, Section Transition Medicine, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.
Kent CarterDepartment of Pediatrics, University of Texas Rio Grande Valley, Harlingen, TX.
Texome Project
Nichole OwenBaylor Genetics Laboratories, Houston, TX.
Liesbeth VossaertBaylor Genetics Laboratories, Houston, TX.
Pengfei LiuBaylor Genetics Laboratories, Houston, TX.
Hugo BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. Electronic address: mw147467@bcm.edu.
Baylor College of Medicine · USBaylor Genetics · USNeurological Research Institute · USTexas Children's Hospital · USThe University of Texas Rio Grande Valley · US

Funding

UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 1988 to 2013
$29.4M
Preclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI MIRJANA MALETIC-SAVATIC · 2020 to 2026
$9.9M
Genomic medicine and gene function implementation for an underserved populationR01HG011795 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J, WANGLER, MICHAEL FRANCIS · 2021 to 2025
$4.8M
NHGRI NIH HHS R01 HG011795NICHD NIH HHS P30 HD024064NICHD NIH HHS P50 HD103555
6 · The paper itself

Abstract

purposeGenomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing.

methodsThe Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project.

resultsWe highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return of results at no cost. We summarize the psychosocial or medical implications of these genetic diagnoses. Thus far, ES provided molecular diagnoses for 18 out of 60 (30%) of Texome participants. Plus, in 11 out of 60 (18%) participants, a partial or probable diagnosis was identified. Overall, 5 participants had a change in medical management.

conclusionTo date, the Texome Project has recruited a racially, ethnically, and socioeconomically diverse cohort. The diagnostic rate and medical impact in this cohort support the need for expanded access to genetic testing and services. The Texome Project will continue reducing barriers to genomic care throughout the future study years.

Indexed as

Exome SequencingGenetic TestingVulnerable PopulationsAdolescentAdultAgedExomeFemaleGenomicsHealth Services AccessibilityHumansMaleMedically Underserved AreaMiddle AgedYoung AdultAccess to genomic medicineDiagnostic odysseyExome sequencingGenetic testingUnder-represented populations

Identifiers

PMID38431799
PMCPMC11161315
OpenAlexW4392301178

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.