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Disclosure of Genetic Research Results to Members of a Founder Population

Journal of Genetic Counseling volume 23, pages 984–991 (2014)Cite this article

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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Acknowledgments

The authors acknowledge Dr. Elizabeth McNally and Dr. Amy Lemke for guidance and helpful discussions; Dr. Cheryl Rockman-Greenberg for advising us on the Town Hall format; Ms. Amanda Schleif for designing the Cystic Fibrosis informational brochure; Dr. Preeti Sharma, Ms. Kathleen Shanovich, Ms. Michelle Stein, Ms. Donata Russell, and Ms. Tara Newcomb for field trip assistance, Mr. William Wentworth-Sheilds for computational support, and the Hutterites for their continued enthusiasm and support for our studies. This research was supported in part by grants R01 HD21244 and R01 HL085197.

Conflict of Interest

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.

Kathryn J. Swoboda has grant funding from NINDS U10 NS077305, NICHD R01 HD69045 and Families of SMA for SMA-related studies; she has contracts for SMA clinical trials and studies with F. Hoffmann-La Roche Genetech and ISIS.

Informed Consent

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 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

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Authors and Affiliations

  1. Department of Human Genetics, University of Chicago, 5841 S. Maryland Ave. M/C 0077, Chicago, IL, 60637, USA

    Rebecca L. Anderson, Kathleen Murray, Jessica X. Chong, Rebecca Ouwenga, Marina Antillon, Peixian Chen, Lorena Diaz de Leon, Soma Das, Carole Ober & Darrel J. Waggoner

  2. Departments of Neurology and Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA

    Kathryn J. Swoboda

  3. Department of Pediatrics, University of Chicago, Chicago, IL, USA

    Lucille A. Lester & Darrel J. Waggoner

  4. Department of Obstetrics and Gynecology, University of Chicago, Chicago, IL, USA

    Carole Ober

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  1. Rebecca L. Anderson
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  2. Kathleen Murray
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  3. Jessica X. Chong
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  4. Rebecca Ouwenga
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  5. Marina Antillon
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  6. Peixian Chen
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  7. Lorena Diaz de Leon
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  8. Kathryn J. Swoboda
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  9. Lucille A. Lester
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  10. Soma Das
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  11. Carole Ober
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  12. Darrel J. Waggoner
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Corresponding author

Correspondence to Darrel J. Waggoner.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Online Resource 1

Brochure on Cystic Fibrosis (CF) in the Hutterites. (PDF 279 kb)

Online Resource 2

CF results letter sent to CF carriers who were married. (PDF 69 kb)

Online Resource 3

Brochure distributed at the Town Hall describing 14 genetic diseases in the Hutterites. (PDF 311 kb)

Online Resource 4

Disclosure letter for 14 conditions. (PDF 84 kb)

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Anderson, R.L., Murray, K., Chong, J.X. et al. Disclosure of Genetic Research Results to Members of a Founder Population. J Genet Counsel 23, 984–991 (2014). https://doi.org/10.1007/s10897-014-9721-8

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  • DOI: https://doi.org/10.1007/s10897-014-9721-8

Keywords

  • Disclosure
  • Genetic
  • Results
  • Research
  • Individual
  • Hutterite