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

Abstract

Aims: Advances in genomics may eventually lead to genetic susceptibility screening of the general population, regardless of a personal or familial history of the disease in question. Yet, little is known about clinicians' attitudes toward such programs. We explored attitudes of family practitioners, medical geneticists and genetic counselors toward genetic screening of the general Ashkenazi-Jewish population for the common founder mutations in BRCA1/2 and LRRK2 genes (which increase the risk of hereditary breast/ovarian cancers and Parkinson's disease, respectively). Methods: Participants (n = 204) completed a specially designed questionnaire, distributed by e-mail, regular mail or in-person. Results: Slightly more than half (52%) were in favor of BRCA screening, while the vast majority (86%) opposed to LRRK2 screening. About two-thirds (68%) of the respondents supported pre-test genetic counseling. Attitudes were largely independent of professional background and sociodemographic characteristics, though a correlation was found with personal interest in genetic self-testing for the above genes. Adverse psychological impact and discrimination in insurance and employment were the major concerns cited by respondents with regard to screening programs. Conclusion: Our findings suggest that the availability of measures for prevention and/or treatment is a major factor in the attitudes of healthcare providers toward population screening for late-onset conditions.

Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso

“…For many of these populations, recurrent and founder mutations have been identified and this has allowed the development of targeted and affordable genetic tests, which can be more easily used for population screening [ 23 ]. One example is represented by the Ashkenazi Jewish population in which identified founder mutations have long been used as the first genetic screening test for women of Jewish descent [ 24 ]. Founder mutations have also been identified in different European and Asian populations, while for West Africa, only one mutation in the BRCA1 gene has been identified as a potential founder mutation [ 25 ].…”

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience

“…After testing, carriers with sparse family history faced criticism for being "trouble seekers, " aggravating uncertainty about the meaning of carrier status in this context. 23 Participants indicated that routinization of genetic testing could resolve these issues. This would increase professional and public awareness and knowledge of testing and risk-reducing measures, creating a more informed and accepting environment.…”

“…These caveats are similar to those indicated by AJ BRCA carriers from families with low cancer prevalence. 23 We also explored participants' views on the streamlined testing process: pretest written information and post-test genetic counseling only for carriers and for noncarriers with a significant family history. Interestingly, streamlining was perceived as offering just the right amount of information at the right time.…”

“…Previous studies found that individuals who used direct-to-consumer BRCA testing were unconcerned about the lack of pretest counseling, 24 whereas individuals who received pretest and post-test counseling for BRCA testing recommended receiving both. 23 This suggests that people may tend to be satisfied with whatever process they underwent, particularly if it was of their own choice. The familiarity of medical stepwise knowledge may contribute to the increasing popularity of direct-to-consumer genetic testing-tested individuals plan to seek additional information predicated on their test results.…”

From the patient to the population: Use of genomics for population screening

“…Many international studies report that non-genetics specialist healthcare providers ( Batra et al, 2002 ; Carroll et al, 2008 ; Menzin et al, 2010 ; Klitzman et al, 2013 ; Hauser et al, 2018 ) feel ill-equipped to discuss the benefits, limitations, and health implications of genetic testing for HBOC, LS ( Hamilton et al, 2017 ; Laforest et al, 2019 ), and FH ( Haga et al, 2019 ; Pang et al, 2020 ; Watts et al, 2021 ). Additional reported barriers to population genomic screening include implementation costs, misinterpretation of results, and the potential for increased patient anxiety ( Shkedi-Rafid et al, 2013 ; De Simone et al, 2021 ). A potential benefit of population genomic screening is the removal of genetic testing eligibility criteria, which providers find overly complex ( Klitzman et al, 2013 ; Laforest et al, 2019 ).…”