ArticleClinical genetics2021
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.
Article in Clinical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 3 of them syntheses 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
31 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Essential Data Elements for Laboratory Test Interoperability: An Expert Consensus-Based Framework.Annals of laboratory medicine · 2026Guideline
- Metabolic Imaging as Future Technology and Innovation in Brain-Tumour Surgery: A Systematic Review.Current oncology (Toronto, Ont.) · 2025Pooled it
- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.American journal of human genetics · 2023Trial
- Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.Journal of medical genetics · 2026Article
- The genomic era of "idiopathic" male infertility: why comprehensive andrological evaluation matters more than ever.Journal of assisted reproduction and genetics · 2026Article
- Non-genetic physicians' self-assessment of knowledge and confidence toward genetic testing and counseling: a national survey in a high consanguineous population.Journal of community genetics · 2026Article
- Cytokines as Key Drivers of Pathological Root Resorption: Integrating Molecular Mechanisms, Genetic Determinants, and Biomarker-Based Insights.Biomedicines · 2026Review
- What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis.European journal of human genetics : EJHG · 2026Article
- Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar.Human genomics · 2026Article
- What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.Public health genomics · 2026Article
- Structured Application of Genetic Testing in a Pediatric Kidney Clinic.Journal of the American Society of Nephrology : JASN · 2026Article
- Ancestry-informative markers and variants of uncertain significance on hereditary cancer panels.Frontiers in oncology · 2026Article
- Utilization of an automated machine learning approach for the detection of granular corneal dystrophy via slit lamp photographs.BMC ophthalmology · 2025Article
- Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.The world journal of men's health · 2025Article
- Peer Reviewing a Case-Based Manuscript in Movement Disorders Neurology.Movement disorders clinical practice · 2025Article
- In Search of Ideal Solutions for Cancer Diagnosis: From Conventional Methods to Protein Biomarkers in Liquid Biopsy.Proteomes · 2025Review
- The case for integrating genetic counselors into primary care: A paradigm shift for our profession.Journal of genetic counseling · 2025Article
- Health care providers' experiences with genetic testing in patients at risk for hereditary angioedema.The journal of allergy and clinical immunology. Global · 2025Article
- Building a Hand-Curated ceRNET for Endometrial Cancer, Striving for Clinical as Well as Medicolegal Soundness: A Systematic Review.Non-coding RNA · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
The interpretation of genetic testing results is subject to error. This observational study illustrates examples of pitfalls and challenges in interpretation of genetic testing results as reported by genetics professionals. We surveyed genetics professionals to describe interpretation challenges, the types of variants that were involved, and the reported clinical impact of misconception of a test result. Case studies were then collected from a select group to further explore potential causes of misunderstanding. A total of 83% of survey respondents were aware of at least one instance of genetic test misinterpretation. Both professionals with and without formal training in genetics were challenged by test reports, and variants of unknown significance were most frequently involved. Case submissions revealed that interpretation pitfalls extend beyond variant classification analyses. Inferred challenges in case submissions include lack of genetic counseling, unclear wording of reports, and suboptimal communication among providers. Respondents and case submitters noted that incorrect interpretation can trigger unnecessary follow-up tests and improperly alter clinical management. Further research is needed to validate and quantify large-scale data regarding challenges of genetic results interpretation.
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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.