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Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders’ rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57 % of items assessing general genetic knowledge and 49–59 % of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resources.

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References

  • Acharya, K., Lang, C. W., & Ross, L. F. (2009). A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease. Journal of the National Medical Association, 101(11), 1163–1172.

    Article  Google Scholar 

  • Alter, B. P., Giri, N., Savage, S. A., Peters, J. A., Loud, J. T., Leathwood, L., et al. (2010). Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. British Journal of Haematology, 150(2), 179–188.

    PubMed  PubMed Central  Google Scholar 

  • Ashida, S., Goodman, M., Pandya, C., Koehly, L. M., Lachance, C., Stafford, J., et al. (2011). Age differences in genetic knowledge, health literacy and causal beliefs for health conditions. Public Health Genomics, 14(4–5), 307–316.

    Article  CAS  Google Scholar 

  • BBC News. (2000). Baby created to save older sister. Retrieved May 23, 2014, from https://doi.org/news.bbc.co.uk/2/hi/health/954408.stm.

  • Belkin, L. (2001). The made-to-order savior. The New York Times. Retrieved May 23, 2014, from https://doi.org/www.nytimes.com/2001/07/01/magazine/the-made-to-order-savior.html.

  • Black, A. P., & Baker, M. (2011). The impact of parent advocacy groups, the Internet, and social networking on rare diseases: The IDEA League and IDEA League United Kingdom example. Epilepsia, 52(Suppl 2), 102–104.

    Article  Google Scholar 

  • Bowling, B. V., Acra, E. E., Wang, L., Myers, M. F., Dean, G. E., Markle, G. C., et al. (2008). Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics, 178(1), 15–22.

    Article  Google Scholar 

  • Camp Sunshine. (2014). About camp. Retrieved June 09, 2014, from https://doi.org/www.campsunshine.org/about_camp/.

  • Case, D. O., Johnson, J. D., Andrews, J. E., Allard, S. L., & Kelly, K. M. (2004). From two-step flow to the internet: the changing array of sources for genetics information seeking. Journal of the American Society for Information Science and Technology, 55(8), 660–669.

    Article  Google Scholar 

  • Christensen, K. D., Jayaratne, T. E., Roberts, J. S., Kardia, S. L. R., & Petty, E. M. (2010). Understandings of basic genetics in the United States: results from a national survey of black and white men and women. Public Health Genomics, 13(7–8), 467–476.

    Article  CAS  Google Scholar 

  • Condit, C. M. (2010). Public understandings of genetics and health. Clinical Genetics, 77(1), 1–9.

    Article  CAS  Google Scholar 

  • Conway, S., Pond, M., Watson, A., & Hamnett, T. (1996). Knowledge of adult patients with cystic fibrosis about their illness. Thorax, 51, 34–38.

    Article  CAS  Google Scholar 

  • Faison, A. M. (2005). The miracle of Molly. 5280. Retrieved May 23, 2014, from https://doi.org/www.5280.com/magazine/2005/08/miracle-molly.

  • Fox, S. (2011). Peer-to-peer Health Care. Pew Research Center. Retrieved March 31, 2014, from https://doi.org/www.pewinternet.org/2011/02/28/peer-to-peer-health-care-2/.

  • Gallo, A., Knafl, K., & Angst, D. (2009). Information management in families who have a child with a genetic condition. Journal of Pediatric Nursing, 24(3), 194–204.

    Article  Google Scholar 

  • Gundersen, T. (2011). “One wants to know what a chromosome is”: the internet as a coping resource when adjusting to life parenting a child with a rare genetic disorder. Sociology of Health & Illness, 33(1), 81–95.

    Article  Google Scholar 

  • Haga, S. B., Barry, W. T., Mills, R., Ginsburg, G. S., Svetkey, L., Sullivan, J., et al. (2013). Public knowledge and attitudes toward genetics and genetic testing. Genetic Testing and Molecular Biomarkers, 17(4), 327–335.

    Article  Google Scholar 

  • Hames, A., Beesley, J., & Nelson, R. (1991). Cystic fibrosis: what do patients know, and what else would they like to know? Respiratory Medicine, 85(5), 389–392.

    Article  CAS  Google Scholar 

  • Hamilton, J. G., Hutson, S. P., Moser, R. P., Kobrin, S. C., Frohnmayer, A. E., Alter, B. P., et al. (2013). Sources of uncertainty and their association with medical decision making: exploring mechanisms in Fanconi anemia. Annals of Behavioral Medicine, 46(2), 204–216.

    Article  Google Scholar 

  • Hurle, B., Citrin, T., Jenkins, J. F., Kaphingst, K. A., Lamb, N., Roseman, J. E., et al. (2013). What does it mean to be genomically literate?: national human genome research institute meeting report. Genetics in Medicine, 15(8), 658–663.

    Article  Google Scholar 

  • Hutson, S. P., Han, P. K. J., Hamilton, J. G., Rife, S. C., Al-Rahawan, M. M., Moser, R. P., et al. (2013). The use of haematopoietic stem cell transplantation in Fanconi anaemia patients: a survey of decision making among families in the US and Canada. Health Expectations. doi:https://doi.org/10.1111/hex.12066.

    Article  Google Scholar 

  • Khincha, P. P., & Savage, S. A. (2013). Genomic characterization of the inherited bone marrow failure syndromes. Seminars in Hematology, 50(4), 333–347.

    Article  CAS  Google Scholar 

  • Lanie, A. D., Jayaratne, T. E., Sheldon, J. P., Kardia, S. L. R., Anderson, E. S., Feldbaum, M., et al. (2004). Exploring the public understanding of basic genetic concepts. Journal of Genetic Counseling, 13(4), 305–320.

    Article  Google Scholar 

  • Lea, D. H., Kaphingst, K. A., Bowen, D., Lipkus, I., & Hadley, D. W. (2011). Communicating genetic and genomic information: health literacy and numeracy considerations. Public Health Genomics, 14(4–5), 279–289.

    CAS  PubMed  Google Scholar 

  • Mayer, D. K., Tighiouart, H., Terrin, N., Stewart, S., Peterson, E., Jeruss, S., et al. (2009). A brief report of caregiver needs and resource utilization during pediatric hematopoietic stem cell transplantation. Journal of Pediatric Oncology Nursing, 26(4), 223–229.

    Article  Google Scholar 

  • Meldrum, C., Scott, C., & Swoboda, K. J. (2007). Spinal muscular atrophy genetic counseling access and genetic knowledge: parents’ perspectives. Journal of Child Neurology, 22(8), 1019–1026.

    Article  Google Scholar 

  • Mirabello, L., Macari, E. R., Jessop, L., Ellis, S. R., Myers, T., Giri, N., et al. (2014). Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multi-case Diamond-Blackfan anemia families. Blood. doi:https://doi.org/10.1182/blood-2013-11-540278.

    Article  CAS  Google Scholar 

  • Morgan, T., Schmidt, J., Haakonsen, C., Lewis, J., Della Rocca, M., Morrison, S., Biesecker, B., & Kaphingst, K. A. (2014). Using the internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011. Journal of Medical Internet Research Protocols, 3(1), e10. doi:https://doi.org/10.2196/resprot.2916.

    Article  Google Scholar 

  • Morren, M., Rijken, M., Baanders, A. N., & Bensing, J. (2007). Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease. Patient Education and Counseling, 65(2), 197–204.

    Article  Google Scholar 

  • Peters, J. A., Beckjord, E. B., Banda Ryan, D. R., Carr, A. G., Vadaparampil, S. T., Loud, J. T., et al. (2008). Testicular cancer and genetics knowledge among familial testicular cancer family members. Journal of Genetic Counseling, 17(4), 351–364.

    Article  Google Scholar 

  • Rivard, M. T., & Mastel-Smith, B. (2014). The lived experience of fathers whose children are diagnosed with a genetic disorder. Journal of Obstetric, Gynecologic, and Neonatal Nursing, 43(1), 38–49.

    Article  Google Scholar 

  • Schaffer, R., Kuczynski, K., & Skinner, D. (2008). Producing genetic knowledge and citizenship through the internet: mothers, pediatric genetics, and cybermedicine. Sociology of Health & Illness, 30(1), 145–159.

    Article  Google Scholar 

  • Shimamura, A., & Alter, B. P. (2010). Pathophysiology and management of inherited bone marrow failure syndromes. Blood Reviews, 24(3), 101–122.

    Article  CAS  Google Scholar 

  • Zierhut, H. A., & Bartels, D. M. (2012). Waiting for the next shoe to drop: the experience of parents of children with Fanconi anemia. Journal of Genetic Counseling, 21(1), 45–58.

    Article  Google Scholar 

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Funding

This research was supported in part by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics (DCEG) of the National Cancer Institute (JAP, BPA), and by contract HHSN261200655001C with Westat (AGC). JGH was supported in part by the National Cancer Institute Cancer Prevention Fellowship Program. PKJH was supported by the National Human Genome Research Institute through the Intergovernmental Personnel Act. We are extremely grateful to all participating patients and families affected with an IBMFS.

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Authors and Affiliations

  1. Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, 641 Lexington Avenue, 7th floor, New York, NY, 10022, USA

    Jada G. Hamilton

  2. College of Nursing, University of Tennessee-Knoxville, Knoxville, TN, USA

    Sadie P. Hutson

  3. Clinical Mental Health Counseling Program, Oregon State University – Cascades, Bend, OR, USA

    Amy E. Frohnmayer

  4. Center for Outcomes Research and Evaluation, Maine Medical Center Research Institute, Scarborough, ME, USA

    Paul K. J. Han

  5. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA

    June A. Peters & Blanche P. Alter

  6. Westat, Rockville, MD, USA

    Ann G. Carr

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  1. Jada G. Hamilton
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  2. Sadie P. Hutson
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  3. Amy E. Frohnmayer
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  4. Paul K. J. Han
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  5. June A. Peters
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  6. Ann G. Carr
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  7. Blanche P. Alter
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Correspondence to Jada G. Hamilton.

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Conflict of Interest The authors declare that they have no conflict of interest.

Human Studies and Informed consent All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Animal Studies No animal studies were carried out by the authors for this article.

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Hamilton, J.G., Hutson, S.P., Frohnmayer, A.E. et al. Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. J Genet Counsel 24, 760–770 (2015). https://doi.org/10.1007/s10897-014-9807-3

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  • DOI: https://doi.org/10.1007/s10897-014-9807-3

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