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DOI 10.1159/000351592

Медицинская библиотека · Public health genomics · 2013

Clinicians' attitudes toward general screening of the Ashkenazi-Jewish population for prevalent founder BRCA1/2 and LRRK2 mutations.

Shkedi-Rafid S, Ofer-Bialer G, Meiner V, Calderon-Margalit R

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Аннотация

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.

Для цитирования: Shkedi-Rafid S, Ofer-Bialer G, Meiner V, Calderon-Margalit R. Clinicians' attitudes toward general screening of the Ashkenazi-Jewish population for prevalent founder BRCA1/2 and LRRK2 mutations.. Public health genomics. 2013. DOI: 10.1159/000351592.

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