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Erschienen in: Journal of Genetic Counseling 6/2014

01.12.2014 | Original Research

Disclosure of Genetic Research Results to Members of a Founder Population

verfasst von: Rebecca L. Anderson, 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

Erschienen in: Journal of Genetic Counseling | Ausgabe 6/2014

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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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Literatur
Zurück zum Zitat Armistead, J., Khatkar, S., Meyer, B., Mark, B. L., Patel, N., Coghlan, G., et al. (2009). Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. [Comparative Study Research Support, Non-U.S. Gov’t]. American Journal of Human Genetics, 84(6), 728–739. doi:10.1016/j.ajhg.2009.04.017.PubMedCentralPubMedCrossRef Armistead, J., Khatkar, S., Meyer, B., Mark, B. L., Patel, N., Coghlan, G., et al. (2009). Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. [Comparative Study Research Support, Non-U.S. Gov’t]. American Journal of Human Genetics, 84(6), 728–739. doi:10.​1016/​j.​ajhg.​2009.​04.​017.PubMedCentralPubMedCrossRef
Zurück zum Zitat Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J. C., Stanga, D., Li, Y., et al. (2013). Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. American Journal of Human Genetics, 93(1), 181–190. doi:10.1016/j.ajhg.2013.05.028.PubMedCentralPubMedCrossRef Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J. C., Stanga, D., Li, Y., et al. (2013). Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. American Journal of Human Genetics, 93(1), 181–190. doi:10.​1016/​j.​ajhg.​2013.​05.​028.PubMedCentralPubMedCrossRef
Zurück zum Zitat Bookman, E. B., Langehorne, A. A., Eckfeldt, J. H., Glass, K. C., Jarvik, G. P., Klag, M., et al. (2006). Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. [Congresses Guideline]. American Journal of Medical Genetics Part A, 140(10), 1033–1040. doi:10.1002/ajmg.a.31195.PubMedCentralPubMedCrossRef Bookman, E. B., Langehorne, A. A., Eckfeldt, J. H., Glass, K. C., Jarvik, G. P., Klag, M., et al. (2006). Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. [Congresses Guideline]. American Journal of Medical Genetics Part A, 140(10), 1033–1040. doi:10.​1002/​ajmg.​a.​31195.PubMedCentralPubMedCrossRef
Zurück zum Zitat Boycott, K. M., Parboosingh, J. S., Chodirker, B. N., Lowry, R. B., McLeod, D. R., Morris, J., et al. (2008). Clinical genetics and the Hutterite population: a review of Mendelian disorders. American Journal of Medical Genetics Part A, 146A(8), 1088–1098.PubMedCrossRef Boycott, K. M., Parboosingh, J. S., Chodirker, B. N., Lowry, R. B., McLeod, D. R., Morris, J., et al. (2008). Clinical genetics and the Hutterite population: a review of Mendelian disorders. American Journal of Medical Genetics Part A, 146A(8), 1088–1098.PubMedCrossRef
Zurück zum Zitat Boycott, K. M., Beaulieu, C., Puffenberger, E. G., McLeod, D. R., Parboosingh, J. S., & Innes, A. M. (2010). A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. [Research Support, Non-U.S. Gov’t]. American Journal of Medical Genetics Part A, 152A(6), 1349–1356. doi:10.1002/ajmg.a.33379.PubMed Boycott, K. M., Beaulieu, C., Puffenberger, E. G., McLeod, D. R., Parboosingh, J. S., & Innes, A. M. (2010). A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. [Research Support, Non-U.S. Gov’t]. American Journal of Medical Genetics Part A, 152A(6), 1349–1356. doi:10.​1002/​ajmg.​a.​33379.PubMed
Zurück zum Zitat Caliskan, M., Chong, J. X., Uricchio, L., Anderson, R., Chen, P., Sougnez, C., et al. (2011). Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. [Research Support, N.I.H., Extramural]. Human Molecular Genetics, 20(7), 1285–1289. doi:10.1093/hmg/ddq569.PubMedCentralPubMedCrossRef Caliskan, M., Chong, J. X., Uricchio, L., Anderson, R., Chen, P., Sougnez, C., et al. (2011). Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. [Research Support, N.I.H., Extramural]. Human Molecular Genetics, 20(7), 1285–1289. doi:10.​1093/​hmg/​ddq569.PubMedCentralPubMedCrossRef
Zurück zum Zitat Chong, J. X., Oktay, A. A., Dai, Z., Swoboda, K. J., Prior, T. W., & Ober, C. (2011). A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. European Journal of Human Genetics, 19(10), 1045–1051. doi:10.1038/ejhg.2011.85.PubMedCentralPubMedCrossRef Chong, J. X., Oktay, A. A., Dai, Z., Swoboda, K. J., Prior, T. W., & Ober, C. (2011). A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. European Journal of Human Genetics, 19(10), 1045–1051. doi:10.​1038/​ejhg.​2011.​85.PubMedCentralPubMedCrossRef
Zurück zum Zitat Fabsitz, R. R., McGuire, A., Sharp, R. R., Puggal, M., Beskow, L. M., Biesecker, L. G., et al. (2010). Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. [Practice Guideline Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. Circulation. Cardiovascular Genetics, 3(6), 574–580. doi:10.1161/CIRCGENETICS.110.958827.PubMedCentralPubMedCrossRef Fabsitz, R. R., McGuire, A., Sharp, R. R., Puggal, M., Beskow, L. M., Biesecker, L. G., et al. (2010). Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. [Practice Guideline Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. Circulation. Cardiovascular Genetics, 3(6), 574–580. doi:10.​1161/​CIRCGENETICS.​110.​958827.PubMedCentralPubMedCrossRef
Zurück zum Zitat Gerull, B., Kirchner, F., Chong, J., Tagoe, J., Chandrasekharan, K., Strohm, O., et al. (2013). A homozygous founder mutation in Desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the hutterite population. Circulation. Cardiovascular Genetics. doi:10.1161/CIRCGENETICS.113.000097.PubMed Gerull, B., Kirchner, F., Chong, J., Tagoe, J., Chandrasekharan, K., Strohm, O., et al. (2013). A homozygous founder mutation in Desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the hutterite population. Circulation. Cardiovascular Genetics. doi:10.​1161/​CIRCGENETICS.​113.​000097.PubMed
Zurück zum Zitat Henneman, L., Bramsen, I., van der Ploeg, H. M., & ten Kate, L. P. (2002). Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. [Research Support, Non-U.S. Gov’t]. Genetic Testing, 6(3), 195–202. doi:10.1089/109065702761403351.PubMedCrossRef Henneman, L., Bramsen, I., van der Ploeg, H. M., & ten Kate, L. P. (2002). Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. [Research Support, Non-U.S. Gov’t]. Genetic Testing, 6(3), 195–202. doi:10.​1089/​1090657027614033​51.PubMedCrossRef
Zurück zum Zitat Heshka, J. T., Palleschi, C., Howley, H., Wilson, B., & Wells, P. S. (2008). A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. [Research Support, Non-U.S. Gov’t Review]. Genetics in Medicine, 10(1), 19–32. doi:10.1097/GIM.0b013e31815f524f.PubMedCrossRef Heshka, J. T., Palleschi, C., Howley, H., Wilson, B., & Wells, P. S. (2008). A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. [Research Support, Non-U.S. Gov’t Review]. Genetics in Medicine, 10(1), 19–32. doi:10.​1097/​GIM.​0b013e31815f524f​.PubMedCrossRef
Zurück zum Zitat Hostetler, J. A. (1974). Hutterite society. Baltimore: Johns Hopkins University Press. Hostetler, J. A. (1974). Hutterite society. Baltimore: Johns Hopkins University Press.
Zurück zum Zitat Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., et al. (2011). TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. [Research Support, American Recovery and Reinvestment Act Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. American Journal of Human Genetics, 89(6), 713–730. doi:10.1016/j.ajhg.2011.11.005.PubMedCentralPubMedCrossRef Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., et al. (2011). TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. [Research Support, American Recovery and Reinvestment Act Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. American Journal of Human Genetics, 89(6), 713–730. doi:10.​1016/​j.​ajhg.​2011.​11.​005.PubMedCentralPubMedCrossRef
Zurück zum Zitat Knoppers, B. M., Joly, Y., Simard, J., & Durocher, F. (2006). The emergence of an ethical duty to disclose genetic research results: international perspectives. [Historical Article Research Support, Non-U.S. Gov’t]. European Journal of Human Genetics, 14(11), 1170–1178. doi:10.1038/sj.ejhg.5201690.PubMedCrossRef Knoppers, B. M., Joly, Y., Simard, J., & Durocher, F. (2006). The emergence of an ethical duty to disclose genetic research results: international perspectives. [Historical Article Research Support, Non-U.S. Gov’t]. European Journal of Human Genetics, 14(11), 1170–1178. doi:10.​1038/​sj.​ejhg.​5201690.PubMedCrossRef
Zurück zum Zitat Lakeman, P., Plass, A. M., Henneman, L., Bezemer, P. D., Cornel, M. C., & ten Kate, L. P. (2009). Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? European Journal of Human Genetics, 17(8), 999–1009. doi:10.1038/ejhg.2009.1.PubMedCentralPubMedCrossRef Lakeman, P., Plass, A. M., Henneman, L., Bezemer, P. D., Cornel, M. C., & ten Kate, L. P. (2009). Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? European Journal of Human Genetics, 17(8), 999–1009. doi:10.​1038/​ejhg.​2009.​1.PubMedCentralPubMedCrossRef
Zurück zum Zitat Martin, A. O. (1970). The founder effect in a human isolate: evolutionary implications. American Journal of Physical Anthropology, 32, 351–368.PubMedCrossRef Martin, A. O. (1970). The founder effect in a human isolate: evolutionary implications. American Journal of Physical Anthropology, 32, 351–368.PubMedCrossRef
Zurück zum Zitat Murphy, J., Scott, J., Kaufman, D., Geller, G., LeRoy, L., & Hudson, K. (2008). Public expectations for return of results from large-cohort genetic research. [Multicenter Study Research Support, N.I.H., Extramural]. The American Journal of Bioethics, 8(11), 36–43. doi:10.1080/15265160802513093.PubMedCentralPubMedCrossRef Murphy, J., Scott, J., Kaufman, D., Geller, G., LeRoy, L., & Hudson, K. (2008). Public expectations for return of results from large-cohort genetic research. [Multicenter Study Research Support, N.I.H., Extramural]. The American Journal of Bioethics, 8(11), 36–43. doi:10.​1080/​1526516080251309​3.PubMedCentralPubMedCrossRef
Zurück zum Zitat Ober, C., Hyslop, T., Elias, S., Weitkamp, L. R., & Hauck, W. W. (1998). Human leukocyte antigen matching and fetal loss: results of a 10-year prospective study. Human Reproduction, 13, 33–38.PubMedCrossRef Ober, C., Hyslop, T., Elias, S., Weitkamp, L. R., & Hauck, W. W. (1998). Human leukocyte antigen matching and fetal loss: results of a 10-year prospective study. Human Reproduction, 13, 33–38.PubMedCrossRef
Zurück zum Zitat Ober, C., Abney, M., & McPeek, M. S. (2001). The genetic dissection of complex traits in a founder population. American Journal of Human Genetics, 69(5), 1068–1079.PubMedCentralPubMedCrossRef Ober, C., Abney, M., & McPeek, M. S. (2001). The genetic dissection of complex traits in a founder population. American Journal of Human Genetics, 69(5), 1068–1079.PubMedCentralPubMedCrossRef
Zurück zum Zitat Payne, Y., Williams, M., Cheadle, J., Stott, N. C., Rowlands, M., Shickle, D., et al. (1997). Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales. The South Wales Cystic Fibrosis Carrier Screening Research Team. [Research Support, Non-U.S. Gov’t]. Clinical Genetics, 51(3), 153–163.PubMedCrossRef Payne, Y., Williams, M., Cheadle, J., Stott, N. C., Rowlands, M., Shickle, D., et al. (1997). Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales. The South Wales Cystic Fibrosis Carrier Screening Research Team. [Research Support, Non-U.S. Gov’t]. Clinical Genetics, 51(3), 153–163.PubMedCrossRef
Zurück zum Zitat Steinberg, A. G., Bleibtreu, H. K., Kurczynski, T. W., Martin, A. O., & Kurczynski, E. M. (1967). Genetic studies in an inbred human isolate. In J. F. Crow & J. V. Neel (Eds.), Proceedings of the Third International Congress of Human Genetics (pp. 267–290). Baltimore: Johns Hopkins University Press. Steinberg, A. G., Bleibtreu, H. K., Kurczynski, T. W., Martin, A. O., & Kurczynski, E. M. (1967). Genetic studies in an inbred human isolate. In J. F. Crow & J. V. Neel (Eds.), Proceedings of the Third International Congress of Human Genetics (pp. 267–290). Baltimore: Johns Hopkins University Press.
Zurück zum Zitat Tambor, E. S., Bernhardt, B. A., Chase, G. A., Faden, R. R., Geller, G., Hofman, K. J., et al. (1994). Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. [Research Support, U.S. Gov’t, P.H.S.]. American Journal of Human Genetics, 55(4), 626–637.PubMedCentralPubMed Tambor, E. S., Bernhardt, B. A., Chase, G. A., Faden, R. R., Geller, G., Hofman, K. J., et al. (1994). Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. [Research Support, U.S. Gov’t, P.H.S.]. American Journal of Human Genetics, 55(4), 626–637.PubMedCentralPubMed
Zurück zum Zitat Trinidad, S. B., Fullerton, S. M., Bares, J. M., Jarvik, G. P., Larson, E. B., & Burke, W. (2010). Genomic research and wide data sharing: views of prospective participants. [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. Genetics in Medicine, 12(8), 486–495. doi:10.1097/GIM.0b013e3181e38f9e.PubMedCentralPubMedCrossRef Trinidad, S. B., Fullerton, S. M., Bares, J. M., Jarvik, G. P., Larson, E. B., & Burke, W. (2010). Genomic research and wide data sharing: views of prospective participants. [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. Genetics in Medicine, 12(8), 486–495. doi:10.​1097/​GIM.​0b013e3181e38f9e​.PubMedCentralPubMedCrossRef
Zurück zum Zitat Wiltshire, K. M., Hegele, R. A., Innes, A. M., & Brownell, A. K. (2013). Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. [Research Support, Non-U.S. Gov’t]. Neuromuscular Disorders, 23(3), 265–268. doi:10.1016/j.nmd.2012.11.011.PubMedCrossRef Wiltshire, K. M., Hegele, R. A., Innes, A. M., & Brownell, A. K. (2013). Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. [Research Support, Non-U.S. Gov’t]. Neuromuscular Disorders, 23(3), 265–268. doi:10.​1016/​j.​nmd.​2012.​11.​011.PubMedCrossRef
Zurück zum Zitat Wolf, S. M., Crock, B. N., Van Ness, B., Lawrenz, F., Kahn, J. P., Beskow, L. M., et al. (2012). Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genetics in Medicine, 14(4), 361–384. doi:10.1038/gim.2012.23.PubMedCentralPubMedCrossRef Wolf, S. M., Crock, B. N., Van Ness, B., Lawrenz, F., Kahn, J. P., Beskow, L. M., et al. (2012). Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genetics in Medicine, 14(4), 361–384. doi:10.​1038/​gim.​2012.​23.PubMedCentralPubMedCrossRef
Zurück zum Zitat Yao, T. C., Du, G., Han, L., Sun, Y., Hu, D., Yang, J. J., et al. (2013). Genome-wide association study of lung function phenotypes in a founder population. Journal of Allergy and Clinical Immunology. doi:10.1016/j.jaci.2013.06.018. Yao, T. C., Du, G., Han, L., Sun, Y., Hu, D., Yang, J. J., et al. (2013). Genome-wide association study of lung function phenotypes in a founder population. Journal of Allergy and Clinical Immunology. doi:10.​1016/​j.​jaci.​2013.​06.​018.
Metadaten
Titel
Disclosure of Genetic Research Results to Members of a Founder Population
verfasst von
Rebecca L. Anderson
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
Publikationsdatum
01.12.2014
Verlag
Springer US
Erschienen in
Journal of Genetic Counseling / Ausgabe 6/2014
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-014-9721-8

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