Decision Making with Uncertain Information: Learning from Women in a High Risk Breast Cancer Clinic

Abstract

Patients and practitioners may believe that clinically validated laboratory tests provide definitive information. Genetic counselors know this is not always so, and the possibility of inconclusive genetic test results is often discussed in the pretest counseling session. This added discussion topic prolongs the process of genetic counseling, but if there is inadequate patient understanding, patient frustration may be high when receiving a result of uncertain significance, and patients may make decisions about subsequent medical management based on incorrect assumptions. For patients/participants in a research setting, where the clinical validity of testing may be unclear, some patients/participants may still want to use test results to influence their medical management. This paper presents findings from a qualitative study wherein 15 women from the High Risk Breast Cancer Clinic at Utah's Huntsman Cancer Institute discussed how uncertainty regarding results affected their decision making. The women were randomly selected from 3 categories--women with test results of uncertain significance; women without cancer who have a mutation; and women who are members of high-risk families, but for whom no mutation was found. Study findings will be used in future studies to better understand how to improve communication regarding uncertain results, especially in a research environment.

Effects ofBRCA1andBRCA2mutations on female fertility

“…The HRBCC is a research resource for individuals with a family history of breast and ovarian cancer. A detailed description of methods, eligibility criteria and protocols for both studies has been described elsewhere [1,8]. There were 133 female mutation carriers from 49 kindreds (each with a unique founder) selected for this study based on the availability of their genetic test results from these two sources.…”

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

“…Therefore, many counsellees expect to receive a clear-cut result, either a positive (pathogenic) or a negative (no-mutation) result [9,10]. However, about 90% of the test applicants receive a DNA-test result, which does not provide certainty: the communicated cancer risks and risk management options remain solely based on family history, and DNA testing is not offered to relatives.…”

A pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling

“…They expect to be offered a DNA-test independent of their disease status and risk profile [7,13,14] and expect a clear-cut result about whether the breast cancer in their family is hereditary [15,16]. However, the presence of hereditary cancer can not be ruled out, it can only be confirmed when a BRCA1/2 mutation is found.…”