Evidence map›Paper›PMID 39140259›Full record

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

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.

Hadley Stevens Smith, Caryn Kseniya Rubanovich, Jill Oliver Robinson, Ariel N Levchenko, Sarah A Classen, Janet Malek, Adam H Buchanan, Barbara Biesecker, Kyle B Brothers, Benjamin S Wilfond and 4 more

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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 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

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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

14 authors.

Hadley Stevens SmithPRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School, Boston, MA; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX. Electronic address: hadley_smith@hphci.harvard.edu.
Caryn Kseniya RubanovichSan Diego State University/University of California San Diego Joint Doctoral Program in Clinical Psychology, San Diego, CA.
Jill Oliver RobinsonCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Ariel N LevchenkoCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Sarah A ClassenCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Janet MalekCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Adam H BuchananDepartment of Genomic Health, Geisinger Health, Danville, PA.
Barbara BieseckerRTI International, Washington, DC.
Kyle B BrothersNorton Children's Research Institute affiliated with the University of Louisville School of Medicine, Louisville, KY.
Benjamin S WilfondTreuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute, Seattle, WA; Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA.
Christine RiniDepartment of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL; Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL.
Cinnamon S BlossHerbert Wertheim School of Public Health, University of California San Diego, San Diego, CA.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX.
Sara J KnightDivision of Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT.

Funding

Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and ValidationU01HG006485 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI MCGUIRE, AMY L, PARSONS, DONALD W. · 2012 to 2021
$22.1M
South-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9M
Genomic Medicine at Northwestern: Discovery and ImplementationU01HG008673 · NHGRI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CHISHOLM, REX L, SMITH, MAUREEN E · 2015 to 2019
$4.1M
Heterogeneity of preferences for and outcomes of pediatric genomic sequencing by race and ethnicityR00HG011491 · NHGRI · HARVARD PILGRIM HEALTH CARE, INC. · PI SMITH, HADLEY STEVENS · 2023 to 2025
$814k
NHGRI NIH HHS R00 HG011491NHGRI NIH HHS U01 HG006485NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U01 HG008673
6 · The paper itself

Abstract

purposeAs population-based screening programs to identify genetic conditions in adults using genomic sequencing (GS) are increasingly available, validated patient-centered outcome measures are needed to understand participants' experience. We aimed to develop and validate an instrument to assess the perceived utility of GS in the context of adult screening.

methodsInformed by a 5-domain conceptual model, we used a 5-step approach to instrument development and validation: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Adults undergoing risk-based or population-based GS who had received GS results as part of ongoing research studies participated in structured cognitive interviews and 2 rounds of surveys. After item pool refinement, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments.

resultsWe derived the 18-item Adult Screening version of the GENEtic Utility scale (total sum score α = .87). Mirroring the Pediatric Diagnostic version, the instrument has a 2-factor structure, including an Informational Utility subscale (14 items, α = .89) and an Emotional Utility subscale (4 items, α = .75). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS. Correlations of the Emotional Utility subscale with psychosocial impact and anxiety and depression were weak to moderate.

conclusionInitial psychometric testing of the Adult Screening GENEtic Utility scale demonstrates its promise, and additional validation in translational genomics research is warranted.

Indexed as

Genetic TestingPsychometricsAdultAgedFemaleGenomicsHumansMaleMiddle AgedReproducibility of ResultsSurveys and QuestionnairesYoung AdultAssessmentGenomic sequencingImplementation scienceMeasurementUtility

Identifiers

PMID39140259
PMCPMC11562923

What OpenQuestion holds

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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.