Supplementary Material for: 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

<b><i>Aims:</i></b> 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 <i>BRCA1/2</i> and <i>LRRK2</i> genes (which increase the risk of hereditary breast/ovarian cancers and Parkinson's disease, respectively). <b><i>Methods:</i></b> Participants (n = 204) completed a specially designed questionnaire, distributed by e-mail, regular mail or in-person. <b><i>Results:</i></b> Slightly more than half (52%) were in favor of <i>BRCA</i> screening, while the vast majority (86%) opposed to <i>LRRK2</i> 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. <b><i>Conclusion:</i></b> 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.

**研究目的**：基因组学领域的进展最终或将推动普通人群开展遗传易感筛查（genetic susceptibility screening），无论受检者是否存在所涉疾病的个人或家族病史。然而目前学界对临床医师针对此类筛查项目的态度仍知之甚少。本研究探讨了家庭医生、医学遗传学家及遗传咨询师，针对普通德系犹太人群开展BRCA1/2与LRRK2基因常见奠基突变（founder mutations）筛查的态度——上述两类基因分别会增加遗传性乳腺癌/卵巢癌与帕金森病的发病风险。
**研究方法**：本研究共纳入204名参与者，通过电子邮件、常规邮寄或线下方式发放定制问卷，由参与者完成填写。
**研究结果**：略超半数（52%）的受访者支持BRCA1/2基因筛查，而绝大多数（86%）反对LRRK2基因筛查。约三分之二（68%）的受访者支持筛查前遗传咨询。受访者的态度在很大程度上不受专业背景与社会人口学特征的影响，但与受访者对上述基因进行遗传自我检测的个人兴趣存在相关性。受访者提及的此类筛查项目的主要担忧包括负面心理影响，以及在保险与就业领域面临的歧视问题。
**研究结论**：本研究结果表明，预防和/或治疗手段的可及性，是影响医疗服务提供者针对迟发性疾病开展人群筛查所持态度的关键因素。

搜集汇总

背景与挑战

背景概述

该数据集是一项研究的补充材料，旨在探索临床医生对阿什肯纳兹犹太人群进行BRCA1/2和LRRK2基因常见突变筛查的态度，涉及遗传性乳腺癌/卵巢癌和帕金森病的风险。研究发现，约一半参与者支持BRCA筛查，但绝大多数反对LRRK2筛查，且态度主要取决于预防和治疗措施的可用性，而非专业背景。数据集反映了医疗保健提供者对人口筛查的关注点，包括心理影响和歧视风险。