GuidelineEuropean journal of human genetics : EJHG2014
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
Guideline in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 5 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
59 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Guideline
- How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.Clinical genetics · 2021Pooled it
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.European journal of human genetics : EJHG · 2016Guideline
- Guidelines for cytogenetic investigations in tumours.European journal of human genetics : EJHG · 2016Guideline
- Genetic counselors' perspectives and experiences with workplace genetic testing: Results of a national survey.Genetics in medicine open · 2026Article
- Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies.Oncology research · 2025Review
- Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.Cell reports methods · 2024Article
- Diagnosis and Management of Pulmonary Manifestations of Telomere Biology Disorders.Current hematologic malignancy reports · 2024Review
- Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study.Diagnostics (Basel, Switzerland) · 2024Article
- The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form.Practical laboratory medicine · 2024Article
- Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography.European journal of human genetics : EJHG · 2023Article
- Prenatal genetic diagnosis of monogenic diseases.Advances in laboratory medicine · 2023Article
- Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.European journal of human genetics : EJHG · 2023Article
- Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.The application of clinical genetics · 2023Article
- Recommendations for whole genome sequencing in diagnostics for rare diseases.European journal of human genetics : EJHG · 2022Article
- Recommendations for reporting results of diagnostic genomic testing.European journal of human genetics : EJHG · 2022Article
- Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing-A Comprehensive Cohort Study of Associated Chromosomal Aberrations.International journal of environmental research and public health · 2022Article
- Clinical exome sequencing-Mistakes and caveats.Human mutation · 2022Review
- Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.Health science reports · 2022Article
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.
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.