Genetic risk experience of breast cancer patients invited to participate in genetic testing within an academic framework in Brazil

AIM: This study aimed to explore affected individual’s perceptions and experiences of genetic risk for breast cancer.

Methods:Fifty breast cancer patients attending a routine medical consultation were approached to participate in a cancer mutations study (BRCA1/BRCA2) at a public university hospital in Rio de Janeiro. Following which a breast surgeon explained genetic risk in general terms concluding by seeking the patient’s consent to participate in the research. Blood was then extracted for BRCA mutation investigation. Later, a psychiatrist conducted semi-structured interviews to understand the risk experience of each patient studied. All interviews were recorded in audio, transcribed and interpreted through content discourse analysis.

Results:Amongst the 50 patients invited to participate in the research, all provided informed consent, 21/50 of the patients did not ask any questions. From the remaining 29/50 (who did ask questions), 23/50 asked about the research and 6/50 about aspects related to their diseases’ diagnosis and prognosis. Data indicated that only 28/50 patients understood that breast cancer risk determination implied that the disease could be passing on in the family. Of those 28/50 patients who understood “risk” only 11/50 patients displayed concern regarding close relatives: 9/50 were very worried and the remaining 2/50 expressed positive utilitarian ideas and feelings.

Conclusion:Use of informed consent, which emphasizes values such as competence, autonomy and citizenship, is inadequate in bringing about patient comprehension of genetic risk. The study pointed out the paternalistic doctor-patient relationship values, which are dominant in Brazilian public health care system. Although genetic information is constructed as empowering, in promising ability to control future health, the majority of the breast cancer patients did not experience mutation investigation as enabling them to act as ''responsible genetic subjects'' towards children and other family members.