BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

Abstract

Purpose: BRCA genes are associated with hereditary breast and ovarian cancers. Guidelines worldwide currently recommend BRCA genetic testing in asymptomatic individuals only if they belong to "high-risk" families. However, population screening for BRCA1/2 may be the logical next step in populations with a high prevalence of founder mutations, such as Ashkenazi Jews. This study aimed to explore (i) the impact of a positive BRCA genetic test result on individuals who have neither a personal history nor a familial history of cancer and (ii) their attitudes toward the concept of population screening.methods: Semistructured in-depth interviews were carried out with 14 Ashkenazi Jewish women who were asymptomatic BRCA carriers and who belonged to families with low prevalence of cancer.Results: Three main findings emerged: (i) having no family history of cancer was a source of optimism but also confusion; (ii) engaging in intensified medical surveillance and undergoing preventive procedures was perceived as health-promoting but also tended to induce a sense of physical and psychological vulnerability; and (iii) there was overall support for BRCA population screening, with some reservations.conclusion: Women belonging to low-cancer-prevalence families within a "high-risk" ethnic community view BRCA genetic testing positively despite the difficulties entailed, because it allows prevention or early detection of cancer. However, implementing a BRCA population screening program should be carried out with proper pre-and post-testing preparation and support for the individuals undergoing testing.Genet Med 2012:14(7):688-694

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer

“…Very few studies are currently available on the psychological impact of TFGT or traditional genetic testing for BRCA1/2 mutations in the subgroup of women with no knowledge of/minimal family history (FH), and the available studies are limited to Ashkenazi Jewish people participating in population-based screening. 11,17 This article describes a qualitative study that compared the impact of TFGT on psychological adjustment and associated unmet support needs in women with no knowledge of/minimal (FH − ) and with a strong family history (FH+).…”

Clinicians' Attitudes toward General Screening of the Ashkenazi-Jewish Population for Prevalent Founder <b><i>BRCA1/2</i></b> and <b><i>LRRK2</i></b> Mutations

“…Most participants in the present study believed that genetic screening should only be performed following genetic counseling, as currently practiced with regard to genetic susceptibility testing. A strong belief in the importance of pre-test genetic counseling has also been expressed by women from low-cancer-prevalence families who underwent BRCA genetic testing [15,40]. Yet, traditional pre- and post-test genetic counseling in the setting of population screening may be too costly to be practical, as with prenatal screening and screening for recessively inherited conditions.…”

“…However, no differentiation was made between women from high-risk families (who were also part of the study) and those from low-cancer-prevalence families as well as those diagnosed with cancer versus those not diagnosed. In a qualitative study of asymptomatic carriers from low-cancer-prevalence families, Shkedi-Rafid et al [40] showed that women were willing to accept the physical and psychological difficulties entailed in being carriers, as long as they were provided with hope. This could also explain why half the supporters of BRCA population screening in the current study still considered the overall advantages of population screening to outweigh its disadvantages, despite the fact that they agreed with statements relating to the adverse implications of screening.…”

“…Pre-test counseling is of utmost importance, since most of the respondents agreed that individuals may feel socially pressured to undergo testing, even if they do not wish to do so (72% of the sample regarding BRCA screening and 62% for LRRK2 screening). Shkedi-Rafid et al [40] showed that some women underwent BRCA testing to satisfy their parents or physicians, and that the full implications of a positive test result were not completely thought out or understood before the women were identified as carriers. Looking at screening programs for recessively inherited conditions in Israel, testing is often considered a ‘must,' with strong familial and social pressure to be tested [43,44,45].…”

Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations

“…Fifty percent of BRCA1/2 positive women diagnosed with breast cancer had no known immediate family history of cancer, indicating family history alone may not be enough to determine appropriate testing (Shkedi‐Rafid, Gabai‐Kapara, Grinshpun‐Cohen, & Levy‐Lahad, ). Individuals from AJ families may present unique challenges in determining appropriate testing, in part due to smaller family sizes and lack of medical information concerning past generations due to factors such as the Holocaust (Shkedi‐Rafid et al., ). Specifically, no family historians may be living or available and family members may have died at young ages, prior to developing cancer.…”