Journal of Genetic Counseling

, Volume 27, Issue 4, pp 770–781 | Cite as

“Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers

  • Sarah C. Nelson
  • Stephanie M. Fullerton
Original Research


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.


Third-party interpretation Direct-to-consumer genomic testing Variant interpretation Personal genomic testing 



We thank the interview participants as well as the organizers and attendees of the 2017 “Genomics and Society: Expanding the ELSI Universe” Congress, where an earlier version of this work was presented. We are also grateful to Deborah J. Bowen and Barbara J. Evans for early input on the study design and scope. This work was supported by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) Clinical Sequencing Exploratory Research (CSER) Consortium, U01HG006507 and U01HG007307 (Jarvik, PI). This work was conducted as part of Sarah C. Nelson’s doctoral dissertation in Public Health Genetics at the University of Washington.

Compliance with Ethical Standards

Conflict of Interest

Sarah C. Nelson and Stephanie M. Fullerton declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. This study was approved by the University of Washington Institutional Review Board as minimal risk human subjects research (approval #50238). Informed consent was obtained from all individual participants included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2018_217_MOESM1_ESM.docx (33 kb)
Online Resource 1 (DOCX 32 kb)
10897_2018_217_MOESM2_ESM.docx (27 kb)
Online Resource 2 (DOCX 27 kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Institute for Public Health GeneticsUniversity of WashingtonSeattleUSA
  2. 2.Department of Bioethics & HumanitiesUniversity of WashingtonSeattleUSA

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