Genetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. Little is known about family members' understanding of indeterminate negative BRCA1/2 test results. The purpose of this qualitative descriptive study was to investigate how daughters and sisters received and understood genetic test results as shared by their mothers or sisters. Participants included 81 women aged 40-74 with mothers or sisters previously diagnosed with breast cancer and who received indeterminate negative BRCA1/2 test results. Participants had never been diagnosed with breast cancer nor received their own genetic testing or counseling. This IRB approved study utilized semi-structured interviews administered via telephone. The research team developed descriptive codes, and NVIVO software was used during qualitative analysis. Participants reported low amounts of information shared with them. Most women described test results as negative and incorrectly interpreted the test to mean there was no genetic component to the pattern of cancer in their families. Only 7 of 81 women accurately described test results consistent with the meaning of an indeterminate negative result — meaning a genetic cause for cancer in their family could still exist. Our findings demonstrate that indeterminate negative genetic test results are not well understood by family members. Lack of understanding may lead to an inability to effectively communicate results to primary care providers and missed opportunities for prevention, screening and further genetic testing. We recommend providing family members letters they can share with their own primary care providers whenever genetic testing is performed.



College and Department

Nursing; Nursing



Date Submitted


Document Type



family communication, BRCA1/2 genetic testing, genetic counseling, genetic risk communication, precision medicine, indeterminate negative test results