ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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
6 citing papers in PubMed.
- Reflections on my international genetic counseling rotations: Contrasts in practice between India and the United States.Genetics in medicine open · 2024Article
- Helping Patients Understand and Cope with BRCA Mutations.Current oncology reports · 2022Review
- Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.Clinical genetics · 2021Article
- Prevalence and Spectrum of GermlineFrontiers in oncology · 2021Article
- Perceptions of provider's epistemic authority in response to variant of uncertain significance-related recommendations.Journal of genetic counseling · 2020Article
- Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.Journal of experimental & clinical cancer research : CR · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
purposeLaboratory-generated genomic test reports are used to convey complex, and frequently multivariant or uncertain, information about disease risk to medical genetics professionals as well as to nonspecialist clinicians, patients, and family members. However, few guidelines exist to guide the content and format of genomic test reports, and little is known about variation in current reporting practices.
methodsWe conducted a structured content analysis of hereditary cancer gene panel test reports obtained from 16 United States-based CLIA-certified laboratories, including reports describing a variant of uncertain significance (VUS) only and reports with both a VUS and pathogenic or likely pathogenic (P/LP) test result.
resultsReport content and format varied widely across laboratories and between VUS and VUS + P/LP reports from the same laboratory, with regard to the inclusion and visual prominence of key content as well as in terms of overall length and readability.
conclusionTest report heterogeneity is likely to reflect both the lack of comprehensive reporting guidelines and disagreements between laboratories about the salience of specific types of information to test interpretation and use. Future research should explore the impact of reporting differences on clinician interpretation and shared decision making.
Indexed as
Identifiers
29493582What 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.