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Meanings Parents Attribute to an Answer from Whole Exome Sequencing Research

Blosser, Beverly
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406809942

Abstract Details

2014, MS, University of Cincinnati, Medicine: Genetic Counseling.
Whole exome sequencing is a recent strategy for discovering causal genetic variants of diseases, especially rare monogenic disease. The purposes of this qualitative study were to examine parents’ expectations regarding whole exome sequencing, to explore the reasons parents decide to have whole exome sequencing for their child with a rare undiagnosed disorder, and to assess the meaning they attribute to anticipated results. Methods The target population consisted of mothers and fathers of children with rare disorders of unknown cause. Twenty mothers and 18 fathers were separately interviewed in-person or by phone within two weeks following informed consent for a whole exome sequencing research project. A topical guide with probes was developed and used for interviews. Interviews were audiotaped and transcribed. Transcripts were entered into NVivo, a qualitative data management software program. Two coders independently coded each transcript using interpretive phenomenological analysis. Three a priori codes based on the study purposes were used to help organize and manage the data: expectations for a positive primary result from whole exome sequencing, reasons for participating in whole exome sequencing study, and assigned meanings for a positive primary result from whole exome sequencing. Discrepancies for all coding were resolved through discussion and consensus. Results Within the 3 respective a priori codes the following themes emerged: (1.) hope for an answer but reluctance to expect a primary result from WES, (2.) to find a diagnosis for their child, (3.) to help others and (4.) to do everything possible to help their child. The overwhelming meaning attributed to a positive primary result was options become available for their child. A diagnosis would also provide closure, a roadmap of the future and an answer to tell others. Conclusion Parents in this study were hopeful but they did not expect a positive primary result from whole exome sequencing. Since parents clearly differentiate hope from expectations, the source of hope is likely the meaning parents attribute to learning the cause of their child’s disorder. Parents’ in our study described various options that might become possible with a positive primary result and the options that were important to them seemed to be driving their diagnostic journey. As whole exome sequencing becomes more widely used, clinicians need to pay careful attention to the meanings families attribute to learning primary exome results and help families understand what is realistic. It is not enough to simply discuss the purpose, potential benefits and limitations of whole exome sequencing during the informed consent process.
Cynthia Prows, R.N. M.S.N. (Committee Chair)
Michael Barnes, Ph.D. (Committee Member)
Rita Pickler, Ph.D. R.N. P.N.P. F.A.A. (Committee Member)
John Lynch, Ph.D. (Committee Member)
Melanie Myers, Ph.D. (Committee Member)
Kristen Sund, Ph.D. (Committee Member)
37 p.
Genetics
Whole exome sequencing; primary result; interpretative phenomenological analysis; qualitative research

Recommended Citations

Citations

  • Blosser, B. (2014). Meanings Parents Attribute to an Answer from Whole Exome Sequencing Research [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406809942

    APA Style (7th edition)

  • Blosser, Beverly. Meanings Parents Attribute to an Answer from Whole Exome Sequencing Research. 2014. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406809942.

    MLA Style (8th edition)

  • Blosser, Beverly. "Meanings Parents Attribute to an Answer from Whole Exome Sequencing Research." Master's thesis, University of Cincinnati, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406809942

    Chicago Manual of Style (17th edition)

ucin1406809942
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This open access ETD is published by University of Cincinnati and OhioLINK.