针对家族性高胆固醇血症的基因检测:在加拿大实施的现状
Adam I Kramer1, Susan Christian2, Kirsten Bartels3
1Department of Medicine, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
CJC open
|November 25, 2024
概括
针对家族性高胆固醇血症 (FH) 的临床遗传检测在加拿大并未得到广泛的应用. 资格标准的省级差异和向遗传咨询师推率低,阻碍了诊断和治疗.
科学领域:
- 心血管遗传学 心血管遗传学
- 公共卫生基因组学
背景情况:
- 家族性高胆固醇血症 (FH) 是一种普遍存在的遗传疾病,在加拿大经常被诊断不足.
- 指南建议对FH进行临床遗传测试,但其可访问性和利用性仍然不清楚.
- 了解加拿大的FH遗传检测现状对于改善诊断至关重要.
研究的目的:
- 评估目前在加拿大对FH的临床遗传测试的可用性和可访问性.
- 识别FH遗传检测和遗传咨询服务实施的障碍.
主要方法:
- 一项横截面调查分发给了加拿大8个省份的23名遗传咨询师.
- 这项由加拿大遗传咨询师协会心脏实践社区促进的调查收集了有关FH遗传检测和咨询的数据.
- 分析了12名遗传咨询师 (52%的响应率) 的数据.
主要成果:
- 在8个被调查的省份中,有7个省份提供临床FH遗传检测,不列颠哥伦比亚省是例外.
- 简化加拿大FH定义是测试资格的最常见标准,在5个省份使用.
- 对遗传咨询师的转诊率通常很低 (≤3个网站/月),除了北克.
结论:
- 在加拿大,FH遗传测试的可用性和实施情况显示出省际差异很大.
- 不一致的资格标准和遗传咨询师的低利用率阻碍了广泛的FH诊断.
- 需要一个统一的国家FH诊断战略,以提高诊断和治疗率.
更多相关视频
相关概念视频
Genome-wide Association Studies-GWAS
12.5K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.5K
Genetic Screens
4.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.9K


