Evidence map›Paper›PMID 41078588›Full record

ArticleGenetics in medicine open2025

Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure.

Jacqueline A Odgis, Sabrina A Suckiel, Laura Golfinopoulos, Nicole R Kelly, Katherine E Bonini, Priya N Marathe, Katie M Gallagher, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown and 10 more

Abstract read
In one paragraph

Article in Genetics in medicine open, 2025. 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
–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

1 citing paper in PubMed.

  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

20 authors.

Jacqueline A OdgisInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Sabrina A SuckielInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Laura GolfinopoulosInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
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.
Katherine E BoniniInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Priya N MaratheInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
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.
Monisha SebastinDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
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.
Kaitlyn BrownDepartment of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
Michelle A RamosDepartment of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY.
Randi E ZinbergDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
George A DiazDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
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.
Noura S Abul-HusnInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
Laurie J BaumanDepartment of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY.
Bruce D GelbDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Carol R HorowitzDepartment of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY.
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.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.

Funding

SUPPORT FOR THE ROSE F KENNEDY IDDRC P50P50HD105352 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI Julie Secombe · 2021 to 2026
$7.0M
NICHD NIH HHS P50 HD105352
6 · The paper itself

Abstract

Purpose: Genomic testing is expanding, yet disparities persist in result disclosure, particularly among diverse and bilingual populations. The Genomic Understanding, Information, and Awareness (GUÍA) digital tool was developed to enhance genomic results communication for parents of children undergoing genomic testing. This study evaluates the effectiveness of GUÍA from both patient and provider perspectives. Methods: Participants were enrolled in the NYCKidSeq and TeleKidSeq studies, which randomized families to standard genetic counseling or GUÍA-assisted result disclosure. Surveys assessed parents' satisfaction with and perceived effectiveness of GUÍA, and their use of GUÍA after disclosure. Genetic counselors were surveyed on usability and integration into clinical workflows. Statistical analyses explored demographic and linguistic factors influencing perceived effectiveness. Results: Of 375 participants, 91% found the information provided by GUÍA "just right," 87% were very satisfied with materials, and 91% reported that GUÍA was helpful in explaining their child's results. GUÍA facilitated communication, with 37% using it to explain results to family and 34% to providers. Genetic counselors reported high usability and minimal burden. Spanish-speaking participants reported greater perceived effectiveness, highlighting its role in addressing linguistic barriers. Conclusion: GUÍA enhances genomic results communication, improves patient understanding, and supports equitable genetic counseling. Its structured, bilingual approach may serve as a scalable model for improving result disclosure in diverse populations.

Indexed as

Digital healthDigital toolsGenetic counselingGenetic testingGenomic medicine

Identifiers

PMID41078588
PMCPMC12508862

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.