Top

Published in:

01-08-2018 | Original Research

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

Authors: Sarah C. Nelson, Stephanie M. Fullerton

Published in: Journal of Genetic Counseling | Issue 4/2018

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.

Available only for authorised users

Allen, C., Gabriel, J., Flynn, M., Cunningham, T. N., Flynn, M., & Wang, C. (2017). The impact of raw DNA availability and corresponding online interpretation services: a mixed methods study. Translational Behavioral Medicine, in press.

Aufrichtig, R., & Yuan, J. (2016). DNA.Land’s trait prediction report. Medium (Weblog). Retrieved from https://medium.com/@dl1dl1/dna-lands-trait-prediction-report-8efbd3a74f98.

Autosomal DNA tools. (n.d.). Retrieved Aug 12, 2017, from https://isogg.org/wiki/Autosomal_DNA_tools.

Badalato, L., Kalokairinou, L., & Borry, P. (2017). Third party interpretation of raw genetic data: an ethical exploration. European Journal of Human Genetics, 25, 1189–1194.CrossRefPubMed

Bettinger, B. (2013). What else can I do with my DNA test results? Retrieved Nov 10, 2014, from http://www.thegeneticgenealogist.com/2013/09/22/what-else-can-i-do-with-my-dna-test-results/.

Bloss, C. S., Wineinger, N. E., Darst, B. F., Schork, N. J., & Topol, E. J. (2013). Impact of direct-to-consumer genomic testing at long term follow-up. Journal of Medical Genetics, 50(6), 393–400.CrossRefPubMed

Bobe, J. (n.d.). Sharing genome studies. Retrieved May 14, 2017, from http://blog.jasonbobe.net/sharing-genome-studies/.

Borry, P., Bentzen, H. B., Budin-Ljøsne, I., Cornel, M. C., Howard, H. C., Feeney, O., … Felzmann, H. (2017). The challenges of the expanded availability of genomic information: an agenda-setting paper. Journal of Community Genetics. https://doi.org/10.1007/s12687-017-0331-7.

Brett, G. R., Metcalfe, S. A., Amor, D. J., & Halliday, J. L. (2012). An exploration of genetic health professionals’ experience with direct-to-consumer genetic testing in their clinical practice. European Journal of Human Genetics, 20(8), 825–830.CrossRefPubMedPubMedCentral

DNA Testing Reviews. (n.d.). Retrieved August 12, 2017, from https://dnatestingchoice.com/.

Elhaik, E., Tatarinova, T., Chebotarev, D., Piras, I. S., Maria Calò, C., De Montis, A., … Ziegle, J. S. (2014). Geographic population structure analysis of worldwide human populations infers their biogeographical origins. Nature Communications, 5, 3513.

Erlich, Y., Gordon, A., Pearson, N., Shee, K., & Pickrell, J. (2015). DNA.Land: a community-wide platform to collect millions of genomes-phenomes. Baltimore: Presented at the 65th Annual Meeting of The American Society of Human Genetics.

Evans, B. J. (2014). The first amendment right to speak about the human genome. University of Pennsylvania Journal of Constitutional Law, 16(3), 549–636.PubMedPubMedCentral

Evans, B. J., Dorschner, M. O., Burke, W., & Jarvik, G. P. (2014). Regulatory changes raise troubling questions for genomic testing. Genetics in Medicine, 16(11), 799–803.CrossRefPubMedPubMedCentral

Global Alliance for Genomics and Health. (n.d.). Regulatory & ethics toolkit. Retrieved January 22, 2018, from https://www.ga4gh.org/ga4ghtoolkit/regulatoryandethics.

Greshake, B., Bayer, P. E., Rausch, H., & Reda, J. (2014). openSNP-A crowdsourced web resource for personal genomics. PLoS One, 9(3), e89204.CrossRefPubMedPubMedCentral

Karczewski, K. J., Tirrell, R. P., Cordero, P., Tatonetti, N. P., Dudley, J. T., Salari, K., … Kim, S. K. (2012). Interpretome: a freely available, modular, and secure personal genome interpretation engine. Pacific Symposium on Biocomputing, 339–350.

Kaufman, D. J., Bollinger, J. M., Dvoskin, R. L., & Scott, J. A. (2012). Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing. Journal of Genetic Counseling, 21(3), 413–422.CrossRefPubMed

Kirkpatrick, B. E., & Rashkin, M. D. (2017). Ancestry testing and the practice of genetic counseling. Journal of Genetic Counseling, 26(1), 6–20.CrossRefPubMed

Landrum, M. J., Lee, J. M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., et al. (2016). ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Research, 44(D1), D862–D868.CrossRefPubMed

LiveWello. (n.d.). Genetics tools. Retrieved Jan 6, 2018, from https://livewello.com/genetics.

Lucivero, F., & Prainsack, B. (2015). The lifestylisation of healthcare? “Consumer genomics” and mobile health as technologies for healthy lifestyle. Applied and Translational Genomics, 4, 44–49.CrossRefPubMed

Lunshof, J., Church, G., & Prainsack, B. (2014). Raw personal data: providing access. Science, 343(6169), 373–374.CrossRefPubMed

McGowan, M. L., Fishman, J. R., Settersten, R. A., Lambrix, M. A., & Juengst, E. T. (2014). Gatekeepers or intermediaries? The role of clinicians in commercial genomic testing. PLoS One, 9(9), e108484.CrossRefPubMedPubMedCentral

Murphy, S. (2009). In need of a reality check. Nature Biotechnology, 27(5), 422–422.CrossRefPubMed

Nelson, S. (2016). Geneticists should offer data to participants. Nature, 539(7627), 7–7.CrossRefPubMed

Open Humans. (n.d.). Retrieved Aug 12, 2017, from www.openhumans.org.

Powell, K. P., Christianson, C. A., Cogswell, W. A., Dave, G., Verma, A., Eubanks, S., & Henrich, V. C. (2012a). Educational needs of primary care physicians regarding direct-to-consumer genetic testing. Journal of Genetic Counseling, 21(3), 469–478.CrossRefPubMed

Powell, K. P., Cogswell, W. A., Christianson, C. A., Dave, G., Verma, A., Eubanks, S., & Henrich, V. C. (2012b). Primary care physicians’ awareness, experience and opinions of direct-to-consumer genetic testing. Journal of Genetic Counseling, 21(1), 113–126.CrossRefPubMed

Sherry, S. T., Ward, M.-H., Kholodov, M., Baker, J., Phan, L., Smigielski, E. M., & Sirotkin, K. (2001). dbSNP: the NCBI database of genetic variation. Nucleic Acids Research, 29(1), 308–311.CrossRefPubMedPubMedCentral

Spector-Bagdady, K., & Pike, E. (2014). Consuming genomics: regulating direct-to-consumer genetic and genomic information. Nebraska Law Review, 92(4), 677–745.

Sterling, R. (2008). The on-line promotion and sale of nutrigenomic services. Genetics in Medicine, 10(11), 784–796.CrossRefPubMed

The Precision Medicine Initiative NIH. (2017). Return of genetic results in the All of Us Research Program. Retrieved Aug 27, 2017, from https://www.nih.gov/sites/default/files/research-training/initiatives/pmi/return-of-results-agenda-0306-0717.pdf

U.S. DHHS. (2016). Individuals’ right under HIPAA to access their health information 45 CFR § 164.524. Retrieved Sept 21, 2017, from http://www.hhs.gov/hipaa/for-professionals/privacy/guidance/access/index.html.

van der Wouden, C. H., Carere, D. A., Maitland-van der Zee, A. H., Ruffin, M. T., Roberts, J. S., & Green, R. C. (2016). Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Annals of Internal Medicine, 164(8), 513–522.CrossRefPubMed

Wagner, J. K., Cooper, J. D., Sterling, R., & Royal, C. D. (2012). Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests. Genetics in Medicine, 14(6), 586–593.CrossRefPubMed

Wang, C., Cahill, T. J., Parlato, A., Wertz, B., Zhong, Q., Cunningham, T. N., & Cummings, J. J. (2017). Consumer use and response to online third-party raw DNA interpretation services. Molecular Genetics & Genomic Medicine. https://doi.org/10.1002/mgg3.340.

Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., et al. (2014). The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 42(Database issue), D1001–D1006.CrossRefPubMed

Title: “Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers
Authors: Sarah C. Nelson
Stephanie M. Fullerton
Publication date: 01-08-2018
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 4/2018
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-018-0217-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2018

Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists

Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer

A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

Genesurance Counseling: Genetic Counselors’ Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics

Genesurance Counseling: Patient Perspectives