ReviewPharmacogenomics2013
Issues surrounding the health economic evaluation of genomic technologies.
Review in Pharmacogenomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 6 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
64 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations.Frontiers in public health · 2025Pooled it
- Health economic evidence for the use of molecular biomarker tests in hematological malignancies: A systematic review.European journal of haematology · 2022Pooled it
- Guidance for the Harmonisation and Improvement of Economic Evaluations of Personalised Medicine.PharmacoEconomics · 2021Pooled it
- Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- A Systematic Review of Health Economic Evaluations of Diagnostic Biomarkers.Applied health economics and health policy · 2016Pooled it
- Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2020Trial
- Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing.European journal of human genetics : EJHG · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- The value of large-scale programmes in human genomics.European journal of human genetics : EJHG · 2025Article
- Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.The European journal of health economics : HEPAC : health economics in prevention and care · 2024Article
- Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.JAMA network open · 2024Article
- Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation.International journal of technology assessment in health care · 2023Article
- Article
- Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges.Journal of community genetics · 2022Article
- What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?Annual review of medicine · 2022Review
- Economic evaluation of using polygenic risk score to guide risk screening and interventions for the prevention of type 2 diabetes in individuals with high overall baseline risk.Frontiers in genetics · 2022Article
- Stakeholder Perspectives on Navigating Evidentiary and Decision Uncertainty in Precision Oncology.Journal of personalized medicine · 2022Article
- Conceptualising 'Benefits Beyond Health' in the Context of the Quality-Adjusted Life-Year: A Critical Interpretive Synthesis.PharmacoEconomics · 2021Review
- Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.Kidney international reports · 2021Article
4 more citing papers are in PubMed but not listed here.
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
aimGenomic interventions could enable improved disease stratification and individually tailored therapies. However, they have had a limited impact on clinical practice to date due to a lack of evidence, particularly economic evidence. This is partly because health economists are yet to reach consensus on whether existing methods are sufficient to evaluate genomic technologies. As different approaches may produce conflicting adoption decisions, clarification is urgently required. This article summarizes the methodological issues associated with conducting economic evaluations of genomic interventions. MATERIALS &
methodsA structured literature review was conducted to identify references that considered the methodological challenges faced when conducting economic evaluations of genomic interventions.
resultsMethodological challenges related to the analytical approach included the choice of comparator, perspective and timeframe. Challenges in costing centered around the need to collect a broad range of costs, frequently, in a data-limited environment. Measuring outcomes is problematic as standard measures have limited applicability, however, alternative metrics (e.g., personal utility) are underdeveloped and alternative approaches (e.g., cost-benefit analysis) underused. Effectiveness data quality is weak and challenging to incorporate into standard economic analyses, while little is known about patient and clinician behavior in this context. Comprehensive value of information analyses are likely to be helpful.
conclusionEconomic evaluations of genomic technologies present a particular challenge for health economists. New methods may be required to resolve these issues, but the evidence to justify alternative approaches is yet to be produced. This should be the focus of future work in this field.
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.