ArticleSociology of health & illness2016
The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.
Article in Sociology of health & illness, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03605004 (Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing), which is not on this map. Cited by 37 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.
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.Journal of genetic counseling · 2026Pooled it
- Trial
- A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.American journal of human genetics · 2020Trial
- Adolescents' Experiences With Sequencing for Genetic Predisposition in Pediatric Cancer: A Quantitative Study.Psycho-oncology · 2026Article
- PDXK Mutation Causes a Late-Onset Pyridoxal 5'-Phosphate-Responsive Peripheral Neuropathy Preceded by Neonatal Seizures: Correspondence.Indian journal of pediatrics · 2026Article
- The clinical utility of genome sequencing is multi-dimensional: experience from the Hong Kong Genome Project.Communications medicine · 2026Article
- The value of large-scale programmes in human genomics.European journal of human genetics : EJHG · 2025Article
- An exploration of delegation practices regarding the utilization of genetic counseling assistants for disclosure of genetic testing results.Journal of genetic counseling · 2025Article
- Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.Orphanet journal of rare diseases · 2024Article
- Taking after a parent: Phenotypic resemblance and the professional familialisation of genomics.Sociology of health & illness · 2024Article
- Reflexive standardization and the resolution of uncertainty in the genomics clinic.Social studies of science · 2023Article
- The social value of genomic sequencing for disadvantaged families facing rare disease.Social science & medicine (1982) · 2022Article
- Developing video education materials for the return of genomic test results to parents and adolescents.PEC innovation · 2022Article
- Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.Journal of personalized medicine · 2022Article
- Article
- Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.Prenatal diagnosis · 2022Article
- A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in theDiagnostics (Basel, Switzerland) · 2021Article
- Diagnostic layering: Patient accounts of breast cancer classification in the molecular era.Social science & medicine (1982) · 2021Article
- "Who Doesn't Like Receiving Good News?" Perspectives of Individuals Who Received Genomic Screening Results by Mail.Journal of personalized medicine · 2021Article
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.Life (Basel, Switzerland) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Genomic sequencing technology is moving rapidly from the research setting into clinical medicine but significant technological and interpretive challenges remain. Exome sequencing (ES) in its recent clinical application provides a genetic diagnosis in about 25 per cent of cases (Berg 2014). While this diagnostic yield is substantial, it also indicates that in a majority of cases, patients are receiving negative results (i.e. no explanatory genetic variant found) from this technology. There are a number of uncertainties regarding the meaning of a negative result in the current context of ES. A negative result may be due to current technological limitations that hinder detection of disease-causing variants or to gaps in the knowledge base that prohibit accurate interpretation of their pathogenicity; or it may indicate that there is not a genetic etiology for the disorder. In this paper we examine the uncertainties and nuances of the negative result from genome sequencing and how both clinicians and patients make meaning of it as revealed in ethnographic observations of the clinic session where results are returned, and in interviews with patients. We find that clinicians and patients construct the meaning of a negative result in ways that are uncertain, contingent, and multivalent; but invested with optimism, promise, and potentiality.
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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.