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.
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Acknowledgements
We are grateful to all the participants and their family members who spoke with us for this research. This work was conducted to fulfill a degree requirement or as part of training.
Funding
This research was supported by NHGRI/ELSI (grant no. R01HG008045).
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KM Stuttgen, JM Bollinger, RL Dvoskin, A McMague, B Shpritz, and DJH Mathews made substantial contributions to the acquisition, analysis, and interpretation of this work. KM Stuttgen, JM Bollinger, RL Dvoskin, A McMague, B Shpritz, and DJH Mathews were involved in drafting the work and revising it critically for important intellectual content as well as final approval of the version to be published. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy and integrity of any part of the work are appropriately investigated and resolved.
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KM Stuttgen, JM Bollinger, RL Dvoskin, A McCague, B Shpritz, J Brandt, and DJH Mathews declare that they have no conflicts of interest.
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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 1964, as revised in 2000 (5). Informed consent was obtained from all participants included in the study.
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No animal studies were carried out by the authors for this article.
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Stuttgen, K.M., Bollinger, J.M., Dvoskin, R.L. et al. Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease. J Genet Counsel 27, 1428–1437 (2018). https://doi.org/10.1007/s10897-018-0274-0
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DOI: https://doi.org/10.1007/s10897-018-0274-0