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. 2014 Dec;23(6):984-91.
doi: 10.1007/s10897-014-9721-8. Epub 2014 Apr 29.

Disclosure of genetic research results to members of a founder population

Rebecca L Anderson  1 , Kathleen Murray, Jessica X Chong, Rebecca Ouwenga, Marina Antillon, Peixian Chen, Lorena Diaz de Leon, Kathryn J Swoboda, Lucille A Lester, Soma Das, Carole Ober, Darrel J Waggoner
Affiliations

Disclosure of genetic research results to members of a founder population

Rebecca L Anderson et al. J Genet Couns. 2014 Dec.

Abstract

There is currently extensive discussion and debate in the literature on how, when, and to whom genetic research results should be returned (see Genetics in Medicine, April 2012 issue). Here, we describe our experience in disclosing genetic information on Mendelian disorders discovered during the course of our research in the Hutterites. We first assessed attitudes toward the disclosure of carrier results, which revealed that many individuals wanted carrier information and that many intended to use the information in family planning. Based on this information, we developed a pilot study to test and disclose cystic fibrosis (CF) carrier status. Next, a larger scale project was developed in order to disclose genetic research results for 14 diseases to those interested in receiving the information. We developed brochures, offered a live interactive educational program, conducted a consent process, and disclosed results in letters mailed to the consented individuals. Overall, ~80% of individuals who participated in the educational program signed consent forms for the release of their results for 14 diseases. We describe our experience with returning individual genetic research results to participants in a population-based research study.

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Conflict of interest statement

Authors Rebecca L. Anderson, Kathleen Murray, Jessica X. Chong, Rebecca Ouwenga, Marina Antillon, Peixian Chen, Lorena Diaz de Leon, Lucille A. Lester, Soma Das, Carole Ober, and Darrel J. Waggoner declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Age and sex distribution of Hutterites A) invited to participate in the CF study (N=1588), B) who consented to participate in the CF study (n=342), and C) who attended the Town Hall and consented to receive results for up to 14 diseases (n=95). Red bars are women, blue bars are men; hatched bars are unmarried individuals.
See this image and copyright information in PMC

References

    1. Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, et al. Triggs-RaineB B. Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet. 2009;84(6):728–739. doi: 10.1016/j.ajhg.2009.04.017. Comparative Study Research Support, Non-U.S. Gov't. - DOI - PMC - PubMed
    1. Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, et al. Boycott KM. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis. 2013;8(1):62. doi: 10.1186/1750-1172-8-62. - DOI - PMC - PubMed
    1. Beskow LM, Burke W. Offering individual genetic research results: context matters. Sci Transl Med. 2010;2(38):38cm20. doi: 10.1126/scitranslmed.3000952. Research Support, N.I.H., Extramural. - DOI - PMC - PubMed
    1. Beskow LM, Burke W, Fullerton SM, Sharp RR. Offering aggregate results to participants in genomic research: opportunities and challenges. Genet Med. 2012;14(4):490–496. doi: 10.1038/gim.2011.62. - DOI - PMC - PubMed
    1. Bogershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, et al. Lamont RE. Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability. Am J Hum Genet. 2013;93(1):181–190. doi: 10.1016/j.ajhg.2013.05.028. - DOI - PMC - PubMed

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