ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
What are people willing to pay for whole-genome sequencing information, and who decides what they receive?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers, 2 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
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- 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
- Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.Frontiers in public health · 2021Pooled it
- Article
- Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.Journal of community genetics · 2022Article
- Laboratory business models and practices: implications for availability and access to germline genetic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Women's perception, attitudes, and intended behavior towards predictive epigenetic risk testing for female cancers in 5 European countries: a cross-sectional online survey.BMC public health · 2019Article
- Canadian genetic healthcare professionals' attitudes towards discussing private pay options with patients.Molecular genetics & genomic medicine · 2019Article
- Bridging the Gaps in Personalized Medicine Value Assessment: A Review of the Need for Outcome Metrics across Stakeholders and Scientific Disciplines.Public health genomics · 2019Review
- Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results.American journal of medical genetics. Part A · 2018Article
- The price of whole-genome sequencing may be decreasing, but who will be sequenced?Personalized medicine · 2017Article
- Integrating pharmacogenetic testing into primary care.Expert review of precision medicine and drug development · 2017Article
- Estimating Preferences for Complex Health Technologies: Lessons Learned and Implications for Personalized Medicine.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeWhole-genome sequencing (WGS) can be used as a powerful diagnostic tool as well as for screening, but it may lead to anxiety, unnecessary testing, and overtreatment. Current guidelines suggest reporting clinically actionable secondary findings when diagnostic testing is performed. We examined preferences for receiving WGS results.
methodsA US nationally representative survey (n = 410 adults) was used to rank preferences for who decides (an expert panel, your doctor, you) which WGS results are reported. We estimated the value of information about variants with varying levels of clinical usefulness by using willingness to pay contingent valuation questions.
resultsThe results were as follows: 43% preferred to decide themselves what information is included in the WGS report. 38% (95% confidence interval (CI): 33-43%) would not pay for actionable variants, and 3% (95% CI: 1-5%) would pay more than $1,000. 55% (95% CI: 50-60%) would not pay for variants for which medical treatment is currently unclear, and 7% (95% CI: 5-9%) would pay more than $400.
conclusionMost people prefer to decide what WGS results are reported. Despite valuing actionable information more, some respondents perceive that genetic information could negatively impact them. Preference heterogeneity for WGS information should be considered in the development of policies, particularly to integrate patient preferences with personalized medicine and shared decision making.Genet Med 18 12, 1295-1302.
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.