Experiences and interpretations of BRCA1/2 testing among women affected by breast or ovarian cancer who received a negative result

Abstract

The aim of this study was to retrospectively describe the genetic testing motives and experiences of women with a previous breast and/or ovarian cancer diagnosis, who received negative BRCA1/2 results including variants of unknown significance and no pathogenic variant detected. One hundred and thirteen women (mean age 56.17 years) were recruited from a familial cancer centre in metropolitan Australia, an average 3.4 years after undergoing testing. Participants completed a self-report questionnaire focusing on the retrospective experience of and motives for undergoing BRCA1/2 testing. The study found that the primary motives for undergoing BRCA1/2 testing were (a) to know more about whether their cancer was hereditary, and (b) to have more certainty about the risk of their children developing cancer. In terms of perceptions of personal risk, 35% of women perceived that their risk of breast cancer to be the same or lower than the general population and 80% believed the negative test result to mean that a risk-conferring gene had not been detected. Yet, the average estimate of the likelihood that their cancer was hereditary was 48 out of a possible 100. Psychologically, women did not interpret the negative BRCA1/2 result as a positive outcome. Half were not relieved by the result and were as or more worried than before. Psychological morbidity was high with 17%, 100%, and 36% experiencing clinically significant depression, anxiety, and cancer-specific distress, respectively. Self-ratings of the likelihood that their cancer was hereditary were more closely associated with their personal family cancer histories than with measures of psychological distress. These results have implications for adherence to risk-reducing behaviours and quality of life. Given that these women are not routinely followed up in clinical practice, these findings highlight the importance of post-test genetic counselling and longer-term follow-up for women with negative BRCA1/2 results. Additional time and emotional support from

Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population

“…Information for future treatment options, confirmation of the inheritance pattern, and identification of causal genes were found to be important motivators for genetic testing in this study. Moreover, a similar trend, in which multiple personal motivating factors drive such decisions on genetic testing, has also been reported in previous studies on other genetic disorders (Stafford et al., 2019; Withrow et al., 2008). The primary characteristics of IRD, which include intractability and difficulty in identification of the causal gene and inheritance pattern based on clinical symptoms and family history, seem to influence the need for information that is revealed only through genetic testing.…”

“…Furthermore, it is important to support the patients and families and help them understand the information and that their actual behavior will help them to benefit greatly from the genetic testing results, regardless of the nature of such results. Considering the previous studies that pointed out disappointment with the result and misunderstanding and anxiety regarding disease conditions persisting in patients who received negative/VUS results (McVeigh et al., 2019; Stafford et al., 2019), continuous support and involvement of patients are necessary before and after genetic diagnosis.…”

“…Considering the previous studies that pointed out disappointment with the result and misunderstanding and anxiety regarding disease conditions persisting in patients who received negative/VUS results (Stafford et al, 2019;, continuous support and involvement of patients are necessary before and after genetic diagnosis.…”

Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study

“…Prolonged clinical distress is uncommon after single-gene testing for HBOC susceptibility 19. However, an inconclusive result such as a VUS may elicit misunderstanding,20 21 uncertainty21 22 and decisional conflicts about clinical management,23 potentially leading to increased distress,24 miscommunication between family members25 and inadequate cancer risk management decisions 21 26 27. On receiving a pathogenic moderate-penetrance gene variant, counselees may experience higher distress and uncertainty compared with a negative, VUS and even a pathogenic high-penetrance variant 28…”