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
. 2018 Dec;27(6):1428-1437.
doi: 10.1007/s10897-018-0274-0. Epub 2018 Jul 2.

Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease

K M Stuttgen  1   2 , J M Bollinger  1 , R L Dvoskin  1 , A McCague  1   2 , B Shpritz  3 , J Brandt  3   4 , Debra J H Mathews  5
Affiliations

Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease

K M Stuttgen et al. J Genet Couns. 2018 Dec.

Abstract

This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington's disease (HD) 20-30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing. Most-but not all-participants were in favor of an individual's right to decide whether and when to pursue HD testing, use of a formal HD testing protocol, and returning medically actionable secondary findings. However, the majority of participants were opposed not only to physician ordering and DTC HD testing in the absence of a formal protocol but also to returning a secondary finding of an expanded HD allele. This study presents the opinions of a unique and extremely well-informed cohort on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings.

Keywords: Direct-to-consumer testing; Genetic testing; Huntington’s disease; Incidental findings; Qualitative research.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest

KM Stuttgen, JM Bollinger, RL Dvoskin, A McCague, B Shpritz, J Brandt, and DJH Mathews declare that they have no conflicts of interest.

Figures

Figure 1.
Figure 1.
What should a doctor do if an incidental finding of HD is found when testing a patient for a genetic cause of cancer?
Figure 2.
Figure 2.
What should a doctor do if an incidental finding of a medically actionable condition is found when testing a patient for a genetic cause of cancer?
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Abdolahi A, Bull ΜT, Darwin KC, Venkataraman V, Grana MJ, Dorsey ER, et al. (2014). A feasibility study of conducting the Montreal Cognitive Assessment remotely in individuals with movement disorders. Health informatics journal, 1460458214556373. - PubMed
    1. ACMG Board of Directors. Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016. February;18(2):207–8. doi: 10.1038/gim.2015.190. Epub 2015 Dec 17. PubMed PMID: 26681314. - DOI - PubMed
    1. American College of Medicine Genetics Board of Directors. ACMG statement on direct-to-consumer genetic testing. Genet Med. 2004. Jan-Feb;6(l):60 PubMed PMID: 14726812. - PubMed
    1. Arevalo J, Wojcieszek J, Conneally PM. Tracing Woody Guthrie and Huntington’s disease. Semin Neurol. 2001. June;21(2):209–23. PubMed PMID: 11442329. - PubMed
    1. Baig SS, Strong M, Rosser E, Taverner NV, Glew R, Miedzybrodzka Z, Clarke A, et al. UK Huntington’s Disease Prediction Consortium., Quarrell OW. 22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium. Eur J Hum Genet. 2016. October;24(10): 1396–402. doi: 10.1038/ejhg.2016.36. Epub 2016 May 11. Erratum in: Eur J Hum Genet. 2017 Nov;25(l1): 1290. PubMed PMID: 27165004; PubMed Central PMCID: PMC5027682. - DOI - PMC - PubMed

Publication types