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Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease

Grandine, Hayley
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629

Abstract Details

2016, MS, University of Cincinnati, Medicine: Genetic Counseling.
Dual or multiple genetic diagnoses, although uncommon, are anecdotally evident from clinical geneticists and genetic counselors, and are found in 1% of individuals who undergo whole exome sequencing. Currently, there is no published research on the impact on families and patients of having a dual genetic diagnosis. This qualitative, exploratory study involved open-ended interviews with adult patients and parents of children affected by Neurofibromatosis Type 1 and another genetic disease. The goal was to develop an initial understanding of how having a second genetic diagnosis affects this population. A total of nine individuals participated in the study: six parents who had a child with a dual diagnosis and three adults with a dual diagnosis themselves. Thematic analysis was used to identify common themes in participant responses. Results indicated that the parents were strongly emotionally impacted by the diagnoses and often felt isolated. However, the affected adults did not report these negative impacts and considered themselves to be only mildly affected by their conditions. Both findings are consistent with previous research on individuals with one genetic condition. Although the difficulties of complex medical management and navigating the healthcare system also exist for families dealing with one genetic diagnosis, these challenges may be more severe for families dealing with two. Future research can be guided by these initial findings to further explore the needs of this population.
Elizabeth Schorry, M.D. (Committee Chair)
Carrie Atzinger, M.S. C.G.C. (Committee Member)
Martha Walker, M.S. C.G.C. (Committee Member)
42 p.
Genetics
Neurofibromatosis Type 1; Dual Diagnosis; Genetic Disease; Emotional Impact; Life Experiences

Recommended Citations

Citations

  • Grandine, H. (2016). Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629

    APA Style (7th edition)

  • Grandine, Hayley. Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease. 2016. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629.

    MLA Style (8th edition)

  • Grandine, Hayley. "Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease." Master's thesis, University of Cincinnati, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629

    Chicago Manual of Style (17th edition)

ucin1459528629
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© 2016, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.