SynthesisEuropean journal of human genetics : EJHG2018
How is genetic testing evaluated? A systematic review of the literature.
Synthesis in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 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
45 citing papers in PubMed, 3 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Are we properly evaluating genetic and genomic testing? A systematic review of health technology assessment reports.Journal of translational medicine · 2025Pooled it
- A Systematic Review and Recommendations Around Frameworks for Evaluating Scientific Validity in Nutritional Genomics.Frontiers in nutrition · 2021Pooled it
- Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.Frontiers in genetics · 2019Pooled it
- Knowledge, attitudes, and training on genetic testing among public health professionals and students in the United Arab Emirates: a qualitative study.BMC medical education · 2026Article
- Clinical translation of polygenic scores for prostate cancer screening.Nature reviews. Urology · 2026Review
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- How is Value Defined in Molecular Testing in Cancer? A Scoping Review.Applied health economics and health policy · 2025Article
- Direct-to-Consumer Genetic Testing for Cardiovascular Disease: A Scientific Statement From the American Heart Association.Circulation · 2025Review
- Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?International journal of neonatal screening · 2024Review
- Advancing hospital-based health technology assessment: evaluating genomic panel contracting strategies for blood tumors through a multimethodology.International journal of technology assessment in health care · 2023Article
- The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care.American journal of human genetics · 2023Article
- Attitudes towards and sociodemographic determinants of genetic test usage in the USA; data from the Health Information National Trend Survey, 2020.Journal of genetic counseling · 2023Article
- Disclosure of Genetic Risk Factors for Alzheimer's Disease to Cognitively Healthy Individuals-From Current Practice towards a Personalised Medicine Scenario.Biomedicines · 2022Review
- Effective and Efficient Delivery of Genome-Based Testing-What Conditions Are Necessary for Health System Readiness?Healthcare (Basel, Switzerland) · 2022Article
- Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe.Translational psychiatry · 2022Review
- Framing utility: Regulatory reform and genetic tests in the USA, 1989-2000.Social science & medicine (1982) · 2022Article
- Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.Scientific reports · 2022Article
- Managing the introduction of genomic applications into the National Health Service: A special challenge for health technology assessment in Italy.Frontiers in public health · 2022Review
- [Genomics in Public Health Scientific evidence and prospects for integration in the prevention practice].Journal of preventive medicine and hygiene · 2022Article
- A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways.BMC medical ethics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Given the rapid development of genetic tests, an assessment of their benefits, risks, and limitations is crucial for public health practice. We performed a systematic review aimed at identifying and comparing the existing evaluation frameworks for genetic tests. We searched PUBMED, SCOPUS, ISI Web of Knowledge, Google Scholar, Google, and gray literature sources for any documents describing such frameworks. We identified 29 evaluation frameworks published between 2000 and 2017, mostly based on the ACCE Framework (n = 13 models), or on the HTA process (n = 6), or both (n = 2). Others refer to the Wilson and Jungner screening criteria (n = 3) or to a mixture of different criteria (n = 5). Due to the widespread use of the ACCE Framework, the most frequently used evaluation criteria are analytic and clinical validity, clinical utility and ethical, legal and social implications. Less attention is given to the context of implementation. An economic dimension is always considered, but not in great detail. Consideration of delivery models, organizational aspects, and consumer viewpoint is often lacking. A deeper analysis of such context-related evaluation dimensions may strengthen a comprehensive evaluation of genetic tests and support the decision-making process.
Indexed as
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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.