ArticlePloS one2019
A proposal of a new evaluation framework towards implementation of genetic tests.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 3 of them syntheses that pooled it.
What it found
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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.
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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.
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Who cites it
18 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations.American journal of human genetics · 2025Pooled it
- An innovative framework to determine the implementation level of personalized medicine: A systematic review.Frontiers in public health · 2023Pooled it
- A Systematic Review of the Value Assessment Frameworks Used within Health Technology Assessment of Omics Technologies and Their Actual Adoption from HTA Agencies.International journal of environmental research and public health · 2020Pooled it
- Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.European journal of human genetics : EJHG · 2025Article
- Prognosis, treatment decision-making and value: A qualitative exploration of the emerging role of breast cancer prognostic assays.PloS one · 2025Article
- The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level model.Frontiers in public health · 2025Article
- 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
- Disclosure of Genetic Risk Factors for Alzheimer's Disease to Cognitively Healthy Individuals-From Current Practice towards a Personalised Medicine Scenario.Biomedicines · 2022Review
- Ethical considerations in gene selection for reproductive carrier screening.Human genetics · 2022Review
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 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
- Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population.Public health ethics · 2021Article
- The Role of Genetic Testing for Parkinson's Disease.Current neurology and neuroscience reports · 2021Review
- Precision Medicine and Public Health: New Challenges for Effective and Sustainable Health.Journal of personalized medicine · 2021Review
- Time to Align: A Call for Consensus on the Assessment of Genetic Testing.Frontiers in public health · 2021Article
- Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.Alzheimer's research & therapy · 2020Article
- Atti Le giornate della ricerca scientificae delle esperienze professionali dei giovani: Società Italiana di Igiene, Medicina Preventiva e Sanità Pubblica (SItI) Roma 20-21 dicembre 2019.Journal of preventive medicine and hygiene · 2020Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe existing frameworks for the evaluation of genetic and genomic applications clearly address the technical and clinical value of a test, but are less concerned with the way genetic services are delivered and organized. We therefore aimed to develop a comprehensive new framework that includes an assessment of service delivery.
methodsA new framework was built on the evaluation dimensions identified through a systematic review of the existing frameworks and a Delphi survey of Italian experts in public health genomics.
resultsOur framework has four sections. The first two sections, respectively, guide the evidence collection process for the genetic test (analytic validity; clinical validity; clinical utility; personal utility) and its delivery models (organizational aspects; economic evaluation; ethical, legal and social implications; patient perspective). The third section guides the formulation of the research priorities to be addressed in future research. Finally, the fourth section suggests three criteria to summarize the collected evidence (net benefit, cost-effectiveness, feasibility).
conclusionWe have successfully developed an evaluation framework for the evaluation of genetic tests that includes an assessment of service delivery. It also introduces some neglected evaluation dimensions such as personal utility and patient perspective.
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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.