“Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers.
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...
| Publicado en: | Journal of Genetic Counseling Vol. 27; no. 4; pp. 770 - 782 |
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| Autores principales: | , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Aug2018
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=130627052&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 130627052 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Aug2018 vid: 27 iid: 4 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 130627052 130627052 130627052 10.1007/s10897-018-0217-9 130627052 ppf: 770 ppct: 12 formats: fmt: @attributes: type: P tig: atl: “Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers. aug: au: Nelson, Sarah C. Fullerton, Stephanie M. affil: Institute for Public Health Genetics, University of Washington, Seattle, WA, USA sug: subj: Instrument Construction Genetic Screening World Wide Web Clinical Assessment Tools Content Analysis Interviews Human Security Measures Genetic Privacy Qualitative Studies Health Information Wellness Genetic Counseling ab: 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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