ArticleJournal of genetic counseling2018
"Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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
15 citing papers in PubMed.
- How Has the Rise of Direct-To-Consumer Genetic Testing Impacted Genetic Counselling Practice? A Scoping Review.Clinical genetics · 2026Article
- Direct-to-Consumer Genetic Testing.NEJM evidence · 2025Review
- Policy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study.Journal of medical Internet research · 2024Review
- Review
- Polygenic Scores in the Direct-to-Consumer Setting: Challenges and Opportunities for a New Era in Consumer Genetic Testing.Journal of personalized medicine · 2023Review
- Core values of genomic citizen science: results from a qualitative interview study.BioSocieties · 2022Article
- PAGEANT: personal access to genome and analysis of natural traits.Nucleic acids research · 2022Article
- Who's on third? Regulation of third-party genetic interpretation services.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration.BMC medical genomics · 2019Article
- Donors, authors, and owners: how is genomic citizen science addressing interests in research outputs?BMC medical ethics · 2019Article
- Article
- Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior.American journal of human genetics · 2019Article
- Identity inference of genomic data using long-range familial searches.Science (New York, N.Y.) · 2018Article
- Genetic database software as medical devices.Human mutation · 2018Article
- Should police have access to genetic genealogy databases? Capturing the Golden State Killer and other criminals using a controversial new forensic technique.PLoS biology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Patients and health care consumers can obtain access to their "raw," or uninterpreted, genetic data from direct-to-consumer genetic testing companies, researchers, or providers and pursue self-directed analysis via third-party interpretation tools. Yet relatively little is known about the nature of currently available interpretation tools or the motivations of tool developers. We conducted a structured content analysis of 23 third-party interpretation tool websites and supporting information, tracking features such as types of information returned, modes of generating and presenting that information, and privacy and security measures. We additionally conducted qualitative interviews with a subset of 10 tool developers. A majority of tools (16 of 23, or 70%) offer some type of health or wellness-related information, often extracted from publicly available variant annotation databases. Half of those interviewed characterized their activities as "bridging" users to the scientific literature rather than interpretation, for which they gave a variety of scientific, ethical, and regulatory justifications. The scale, heterogeneity, and complexity of information available from third-party interpretation are unprecedented. While developers aim to enlighten and empower tool users, interpretation-free "bridging" to rapidly evolving databases may instead impose burdens on genetic counselors and other health care providers asked to provide further contextualization and explanation.
Indexed as
Identifiers
29411211What 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.