Abstract
For patients with unexplained or undiagnosed conditions, genomic sequencing offers the hope of resolving unanswered questions. With the growth of clinical genomic sequencing, understanding factors that shape patients’ hope for information could have important implications for developing patient education guidelines. Based on the goal-directed theory of hope, we investigated illness uncertainty as a form of motivation and subjective social status as a form of perceived resources to predict the amount and kinds of information that adult patients (N=191) and parents of pediatric patients (N=79) hoped to receive from diagnostic sequencing results. Participants were part of a larger longitudinal study on clinical genomic sequencing, but the current study focuses on their hopes for diagnostic sequencing results. Hopes for information were assessed through close-ended and open-ended responses. Findings from mixed methods analyses indicated that although patients and parents hoped to learn multiple kinds of information from diagnostic sequencing results, their hopes appeared to be influenced by their illness uncertainty and perceptions of their social and economic resources. These findings suggest that patients’ illness uncertainty and perceived resources could be useful avenues for discussing patient hopes and educating patients about strengths and limitations of genomic sequencing.
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References
Nekolaichuk CL, Jevne RF, Maguire TO : Structuring the meaning of hope in health and illness. Soc Sci Med 1999; 48: 591–605.
Soundy A, Smith B, Dawes H, Pall H, Gimbrere K, Ramsay J : Patients’ expression of hope and illness narratives in three neurological conditions: a meta-ethnography. Health Psychol Rev 2013; 7: 177–201.
Facio FM, Lee K, O’Daniel JM : A genetic counselor’s guide to using next-generation sequencing in clinical practice. J Genet Couns 2014; 23: 455–462.
Facio FM, Brooks S, Loewenstein J, Green S, Biesecker LG, Biesecker BB : Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet 2011; 19: 1213–1217.
Miller FA, Hayeems RZ, Bytautas JP et al: Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer. Eur J Hum Genet 2014; 22: 391–395.
Sapp JC, Dong D, Stark C et al: Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children. Clin Genet 2014; 85: 120–126.
Schrank B, Bird V, Rudnick A, Slade M : Determinants, self-management strategies and interventions for hope in people with mental disorders: systematic search and narrative review. Soc Sci Med 2012; 74: 554–564.
Snyder CR : Current trends: conceptualizing, measuring, and nurturing hope. J Couns Dev 1995; 73: 355–360.
Snyder CR, Harris C, Anderson JR et al: The will and the ways: development and validation of an individual-differences measure of hope. J Pers Soc Psychol 1991; 60: 570–585.
Han PKJ, Klein WMP, Arora NK : Varieties of uncertainty in health care: a conceptual taxonomy. Med Decis Making 2011; 31: 828–838.
Mishel MH : Reconceptualization of the uncertainty in illness theory. J Nur Scholarship 1990; 22: 256–262.
Hamilton JG, Hutson SP, Moser RP et al: Sources of uncertainty and their association with medical decision making: exploring mechanisms in Fanconi anemia. Ann Behav Med 2013; 46: 204–216.
Johnson Wright J, Afari N, Zautra A : The illness uncertainty concept: a review. Curr Pain Headache Rep 2009; 13: 133–138.
Adler NE, Epel ES, Catellazzo G, Icovics JR : Relationship of subjective and objective social status with psychological and physiological functioning: preliminary data in healthy white women. Health Psychol 2000; 19: 586–592.
McLeod JD, Lively KJ : Social structure and personality; In: Delamater J (ed): Handbook of Social Psychology. New York, USA: Kluwer Academic/Plenum, 2003, ch 4, pp 77–102.
Singh-Manoux A, Marmot MG, Adler NE : Does subjective social status predict health and change in health status better than objective status? Psychosom Med 2005; 67: 855–861.
Mishel MH : The measurement of uncertainty in illness. Nurs Res 1981; 30: 258–263.
Wingard JR, Curbow B, Baker F, Piantadosi S : Health, functional status, and employment of adult survivors of bone marrow transplantation. Ann Intern Med 1991; 114: 113–118.
Karnofsky DA, Abelman WH, Craver LF, Burchenal JH : The use of the nitrogen mustards in the palliative treatment of carcinoma. Cancer 1948; 1: 634–656.
Lewis CC, Pantell RH, Kieckhefer GM : Assessment of Children's Health Status: Field Test of New Approaches. Medical Care, Vol. 27, No. 3, Supplement: Advances in Health Status Assessment: Conference Proceedings 1989, pp S54–S65.
Cohen J, Cohen P, West SG, Aiken LS : Applied Multiple Regression/Correlation Analysis for the Behavioral Sciences. Mahwah, NJ, USA: Lawrence Erlbaum, 2003, pp 181.
Lea DH, Kaphingst KA, Bowen D, Lipkus I, Hadley DW : Communicating genetic and genomic information: health literacy and numeracy considerations. Public Health Genomics 2011; 14: 279–289.
Condit CM : Public understandings of genetics and health. Clin Genet 2010; 77: 1–9.
Berg JS, Khoury MJ, Evans JP : Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 2011; 13: 499–504.
Green RC, Berg JS, Grody WW et al: (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Gen Med 2014; 15: 565–574.
Averill JR, Sundararajan L : Hope as rhetoric: cultural narratives of wishing and coping; in Eliott J (ed): Interdisciplinary Perspectives on Hope. Hauppauge, NY, USA: Nova Science, 2004, pp 127–159.
Acknowledgements
Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U01HG006487. Principal Investigators: James P Evans, Jonathan S Berg, Karen E Weck, Kirk C Wilhelmsen, and Gail E Henderson. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. We thank Dr Gail E Henderson for feedback on previous drafts and Dr Debra Skinner for guidance on content analysis and feedback on previous drafts.
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Khan, C., Moore, E., Leos, C. et al. Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status. Eur J Hum Genet 24, 803–808 (2016). https://doi.org/10.1038/ejhg.2015.204
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DOI: https://doi.org/10.1038/ejhg.2015.204
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