基因载体查的不断变化的景观:临床考虑和挑战
Lauren E Buckley1, Maeve K Hopkins2, Jeffrey A Kuller3
1Resident, Women's Health Institute.
Obstetrical & gynecological survey
|August 18, 2023
概括
基因携带者查可以识别罕见遗传疾病的携带者,使得人们能够做出明智的生殖决策,并减少疾病发病率. 扩展查改善了载体识别,但面临实施障碍.
科学领域:
- 医学遗传学 医学遗传学
- 生殖健康 生殖健康
- 临床实践指南 临床实践指南
背景情况:
- 遗传载体查对于识别携带罕见遗传疾病基因的个体至关重要.
- 早期识别使患者有能力对生殖健康做出选择,这可能会降低严重遗传疾病的患病率.
研究的目的:
- 审查产前和携带者遗传查的历史演变.
- 概述目前对遗传查的实践指南和社会建议.
- 讨论与实施遗传载体查相关的临床挑战.
主要方法:
- 专业协会公布的实践指南的全面审查.
- 为了收集有关载体查史和临床方面的信息,进行了PubMed搜索.
主要成果:
- 证据包括实践指南,评论文章和同行评审的研究.
- 目前的指导方针在各个专业组织之间有所不同.
- 扩展的载体查提高了罕见疾病载体的检测.
结论:
- 扩展载体查通过增加载体识别来促进更明智的生殖决策.
- 一些障碍阻碍了对所有患者进行扩大载体查的普遍实施.
相关概念视频
Human Genetics
611
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
611
What is Genetic Engineering?
74.3K
Overview
74.3K
Issues And Trends In Healthcare Delivery System
5.7K
The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
5.7K
Behavioral Genetics and Its Designs
407
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
407


