ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- Article
- The clinical utility of genome sequencing is multi-dimensional: experience from the Hong Kong Genome Project.Communications medicine · 2026Article
- Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.European journal of human genetics : EJHG · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Multiple domains of efficacy define the utility of genetic testing.Pediatric research · 2025Article
- Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients' Perspectives on Influencing Factors and Strategies.The patient · 2025Article
- Article
- How does personal utility depend on clinical setting? Evidence from 3 cohorts.Genetics in medicine open · 2025Article
- Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Ethical and Legal Issues Surrounding Genetic Testing in the NICU.NeoReviews · 2024Article
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- The Parent PrU: A measure to assess personal utility of pediatric genomic results.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Determining the utility of diagnostic genomics: a conceptual framework.Human genomics · 2023Review
- Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.European journal of human genetics : EJHG · 2022Article
- Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.The patient · 2022Review
- Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.Children (Basel, Switzerland) · 2021Article
- Measuring clinical utility in the context of genetic testing: a scoping review.European journal of human genetics : EJHG · 2021Article
- Clinical utility of genomic sequencing: a measurement toolkit.NPJ genomic medicine · 2020Review
- Commentary on the development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
7 authors.
Funding
Abstract
purposeClinical utility describes a genetic test's value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept.
methodsItem selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals.
resultsA review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE's final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings.
conclusionWork to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies to generate policy-relevant evidence pertaining to the clinical utility of genetic testing across a range of settings.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.