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UBC Theses and Dissertations

Interpreting and making sense of uninformative results of testing for BRCA 1 and BRCA 2 cancer gene mutations Maheu, Christine

Abstract

Research suggests that a significant proportion of individuals from families at risk of hereditary breast and ovarian cancer will be found not to have a detectable mutation in their BRCA1 or BRCA2 cancer genes. Although the interpretation of genetic test results is relatively straightforward in families where a mutation has already been identified, little is known about how people who have had breast and/or ovarian cancer in the past as well as a family history of cancer considered at risk for HBOC interpret and make sense of test results concluding that no detectable mutation has been found. This problem is further compounded when they are told that such genetic test results do not completely rule out an inherited mutation because of their strong family history of the disease. While the clinical and research literature refers to these results as uninformative or inconclusive, this study shows that clients' interpretations are much more complex. To date, few studies have focused on affected individuals from families at risk of HBOC who receive uninformative genetic test results. We therefore have little knowledge of how these individuals interpret and make sense of such results and how these results affect their everyday lives, health and illness experiences. This dissertation addresses these lacunae by using an interpretive description approach to examine clients' experiences of genetic testing. Qualitative, in-depth interviews were conducted with 21 affected individuals with a family history of cancer considered at risk for HBOC who received genetic testing and 15 family members. The interview data show that living with a personal and family history of breast and/or ovarian cancer plays an important role in interpreting and then making sense of their genetic test results and in one's perception of probably having an inherited mutation for HBOC. Thirteen generic structures were found to organise beliefs towards the making sense process of interpreting their genetic test results while three types of interpretation of the test results were derived from the participants' accounts. The categories of interpretation are seeing results as: a confirmation of their mutation status, ambiguity regarding their mutation status, and refutation of being a mutation carrier. On the basis of these generic structures and the three types of interpretation, it is possible to see a retrospective narrative of causal reasoning of having a probable inherited mutation that builds upon recognition of a strong family history with breast and/or ovarian cancer. This 7-stage process evolves with changes in people's everyday lives, health and illness experiences. The impact of receiving uninformative test results for BRCA1 and BRCA2 mutations on the lives of affected individuals and their family members requires further examination. We need to understand how such results affect cancer and genetic risk perception and potentially contribute to clients' viewing themselves at chronic risk of cancer and of an inherited mutation. Further investigation is also needed to determine how uncertain genetic risk information is shared among and used by family members. This dissertation offers recommendations to ameliorate the experience of individuals who receive uninformative genetic test results, to improve genetic testing services, and to enhance the genetic knowledge of nurses and their clients.

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