Receiving inconclusive genetic test results: an interpretive description of the BRCA1/2 experience.
We examined the experience of 21 women diagnosed with breast or ovarian cancer who received inconclusive BRCA1/2 genetic test results. Although these women received similar information on the technical meaning of an inconclusive result, their interpretations of personal risk for a probable, inherited cancer mutation differed. Their interpretations ranged from confidence that they probably carried an undetected gene mutation to believing that their cancer had no genetic basis. Women drew from their personal experience with genetic testing and from distinctive perceptions and beliefs in attempting to understand their test results; they variously drew upon such evidence as observations of similarities and differences within familial breast/ovarian cancer patterns to explain their ultimate conclusions as to their own genetic status.
Maheu
Christine
C
School of Nursing, York University, Toronto, ON, Canada.
Thorne
Sally
S
D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D003951:Diagnostic Errors; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D012307:Risk Factors