title: BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: The Department of Human Genetics, Institute for Medical Research, The Hebrew University of Jerusalem, Jerusalem, Israel. Shiri.shkedi@mail.huji.ac.il
authors.forename: Shiri
authors.initials: S
authors.lastname: Shkedi-Rafid
authors.forename: Efrat
authors.initials: E
authors.lastname: Gabai-Kapara
authors.forename: Julia
authors.initials: J
authors.lastname: Grinshpun-Cohen
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
mesh_terms: D000328:Adult; D001294:Attitude to Health; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D005828:Genetics, Population; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D015995:Prevalence; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D055815:Young Adult