PDF(Pubmed)
Abstract：
The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to expanded access of diagnostic DMD analysis. However, it is unclear how much of these advances have also improved healthcare and access to genetic testing for women at-risk of being carriers. This study evaluates the process of genetic counseling and empowerment of genetic information by women from DBMD families. We carried out a cross-sectional study between February and June 2022 in Brazil. The online survey with items regarding sociodemographic data; family history; access to health services; reproductive decisions; and the Genomic Outcome Scale was answered by 123 women recruited from a rare diseases reference service and a nationwide patient advocacy group. Genetic counseling was reported by 77/123 (62.6%) of women and 53.7% reported having performed genetic analysis of DMD. Although the majority knew about the risks for carriers of developing heart disease and muscle weakness, only 35% of potential carriers have had cardiac studies performed at least once in their lives. Country region, type of kinship, number of affected males in the family, age, notion of genetic risk, education level, and participation in advocacy groups were the main factors associated with adequate healthcare access to women and empowerment of genetic information. Education to health professionals and policies to expand access to carrier genetic testing, whether public policies or regulation of pharmaceutical companies\' diagnostic programs, is paramount to improve the care of families with DBMD in Brazil.
摘要：
对Duchenne和Becker肌营养不良症（DBMD）的特定分子靶标起作用的疗法的出现导致了诊断DMD分析的扩展。然而,目前尚不清楚这些进展在多大程度上也改善了面临携带者风险的女性的医疗保健和基因检测。这项研究评估了来自DBMD家庭的女性的遗传咨询和遗传信息授权的过程。我们在2022年2月至6月间在巴西进行了一项横断面研究。在线调查涉及有关社会人口统计学数据的项目；家族史；获得医疗服务；生殖决定；从罕见疾病参考服务和全国患者倡导组织招募的123名妇女回答了基因组结果量表。77/123（62.6％）的女性报告了遗传咨询，53.7％的女性报告进行了DMD的遗传分析。尽管大多数人知道携带者患心脏病和肌肉无力的风险，只有35%的潜在携带者一生中至少进行过一次心脏研究.国家区域,亲属关系的类型，家庭中受影响的男性人数，年龄,遗传风险的概念，教育水平,和参与倡导团体是与妇女充分获得医疗保健和赋予遗传信息相关的主要因素。对卫生专业人员的教育和扩大携带者基因检测的政策，无论是公共政策还是制药公司诊断计划的监管，对于改善巴西DBMD家庭的护理至关重要。
