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

Shkedi-Rafid S.a · Ofer-Bialer G.d · Meiner V.b · Calderon-Margalit R.c
aDepartment of Human Genetics, Institute for Medical Research, The Hebrew University of Jerusalem, bDepartment of Genetics and Metabolic Diseases, Center for Clinical Genetics, Hadassah-Hebrew University Hospital, and cHadassah-Hebrew University School of Public Health and Community Medicine, Jerusalem, and dMaccabi Healthcare Services, and Family Medicine Department and Medical Education, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Public Health Genomics 2013;16:174-183 (DOI:10.1159/000351592)


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.


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