Experiencing predictive genetic testing in families with Huntington's disease and hereditary breast and ovarian cancer
Rebekah J. Hamilton, PhD, RN, CNL
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Predictive genetic testing for Huntington's disease (HD) and hereditary breast and ovarian cancer (HBOC) is a relatively new medical test. Research to date, has focused on: (1) the psychological impact of genetic testing, (2) disclosing of results, (3) the impact of genetic testing on HD families, and (4) individual's assessment of risk. The purpose of this study was to examine how individuals experience predictive genetic testing for HD and HBOC and what impact that experience has on individuals and family members. A grounded theory study design employing in-depth interviewing, theoretical sampling, and dimensional analysis was performed. Interviews with 29 participants were completed: 17 HBOC participants and 12 HD participants. The sample included individuals who tested: (1) negative for HD, (2) positive for HD, (3) positive for BRCA1/BRCA2 and (4) one participant from each group who decided against testing. Analysis revealed that individuals and their families are changed by predictive genetic testing.
Individuals and families experience changes as a consequence of the actual test result. Individual experiences included: (1) HD negative individuals lost connections with siblings after disclosing test results, (2) HD positive individuals had to learn live life with a foreseeable end, and (3) BRCA1/BRCA2 positive individuals experienced changes in their sense of wellbeing. Families also are changed when an individual member had a predictive genetic test: (1) HD families had the family norm of silence about HD challenged, (2) HBOC families changed from understanding BC/OC as something in the family to it being a characteristic of the family.
Participants came to the genetic testing process with an understanding of the “family disease” that was based on family history and resemblances to others in the family. This “family understanding” was resistant to change and was only marginally influenced by the genetics counseling received during the testing process.
This study illustrates how individuals and families are changed by predictive genetic testing for HD and HBOC. Examining predictive genetic testing from the participants' perspective enhances our understanding of this complex process and will allow for an informed development of genetic services.
This dissertation has also been disseminated through the ProQuest Dissertations and Theses database. Dissertation/thesis number: 3101451; ProQuest document ID: 305285011. The author still retains copyright.
This item has not gone through this repository's peer-review process, but has been accepted by the indicated university or college in partial fulfillment of the requirements for the specified degree.
|Review Type||None: Degree-based Submission|
|Evidence Level||Grounded Theory|
|Research Approach||Qualitative Research|
Predictive Genetic Testing;
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