Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 Jul;14(7):681-7.
doi: 10.1038/gim.2012.22.

Patients' understanding of and responses to multiplex genetic susceptibility test results

Kimberly A Kaphingst  1 , Colleen M McBride, Christopher Wade, Sharon Hensley Alford, Robert Reid, Eric Larson, Andreas D Baxevanis, Lawrence C Brody
Affiliations

Patients' understanding of and responses to multiplex genetic susceptibility test results

Kimberly A Kaphingst et al. Genet Med. 2012 Jul.

Abstract

Purpose: Examination of patients' responses to direct-to-consumer genetic susceptibility tests is needed to inform clinical practice. This study examined patients' recall and interpretation of, and responses to, genetic susceptibility test results provided directly by mail.

Methods: This observational study had three prospective assessments (before testing, 10 days after receiving results, and 3 months later). Participants were 199 patients aged 25-40 years who received free genetic susceptibility testing for eight common health conditions.

Results: More than 80% of the patients correctly recalled their results for the eight health conditions. Patients were unlikely to interpret genetic results as deterministic of health outcomes (mean = 6.0, s.d. = 0.8 on a scale of 1-7, 1 indicating strongly deterministic). In multivariate analysis, patients with the least deterministic interpretations were white (P = 0.0098), more educated (P = 0.0093), and least confused by results (P = 0.001). Only 1% talked about their results with a provider.

Conclusion: Findings suggest that most patients will correctly recall their results and will not interpret genetics as the sole cause of diseases. The subset of those confused by results could benefit from consultation with a health-care provider, which could emphasize that health habits currently are the best predictors of risk. Providers could leverage patients' interest in genetic tests to encourage behavior changes to reduce disease risk.

PubMed Disclaimer

References

    1. McBride CM, Hensley-Alford S, Reid RJ, Larson EB, Baxevanis AD, Brody LC. Putting science over supposition in the arena of personalized genomics. Nat Genet. 2008;40(8):939–942. - PMC - PubMed
    1. Evans JP, Dale DC, Fomous C. Preparing for a consumer-driven genomic age. N Engl J Med. 2010;363(12):1099. - PubMed
    1. Kolor K, Liu T, St Pierre J, Khoury M. Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genet Med. 2009;11:595. - PubMed
    1. Topol EJ, Murray SS, Frazer KA. The genomics gold rush. J Am Med Assoc. 2007;298(2):218–221. - PubMed
    1. Katsanis S, Javitt G, Hudson K. A case study of personalized medicine. Science. 2008;320:53–54. - PubMed

Publication types