目前的基因检测方法和基因评估推对于患有先天性心脏病的成年人
Laura B Oehlman1,2,3, Alexander R Opotowsky2,4, Kathryn N Weaver1,2,4
1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Frontiers in genetics
|May 28, 2024
概括
患有先天性心脏病 (CHD) 的成年人从遗传检测中没有充分受益,心脏病学家更有可能转诊而不是订购测试,单基因疾病测试未得到充分利用. 需要指导方针来改善这种不断增长的人口的获取和管理.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 医学遗传学 医学遗传学
背景情况:
- 先天性心脏病 (CHD) 是最常见的先天性异常,高达33%的先天性异常有遗传原因.
- 改善的生存率导致了越来越多的患有心血管疾病 (ACHD) 的成年人群,他们在童年时无法获得当前的遗传技术.
- 这项研究解决了ACHD患者遗传评估的差距.
研究的目的:
- 确定ACHD心脏病专家如何为患者提供遗传学服务.
- 确定影响心脏病学家对ACHD患者遗传学护理决策的因素.
主要方法:
- 一项描述性的横截面研究采用问卷调查了ACHD心脏病专家.
- 该调查通过REDCap链接以电子方式分发.
- 数据是在2022年6月至2023年1月期间收集的.
主要成果:
- 35名心脏病专家参与 (34%的应答率).
- 大多数心脏病学家转诊患者 (91%) 而不是订购测试 (57%),染色体测试比基因测序更常见.
- 订购基因测试的障碍比转诊的障碍更频繁;心脏病专家更有信心识别遗传综合征,而不是订购适当的测试.
结论:
- 基因检测,特别是微删除综合征,被提供给ACHD患者,但单基因疾病检测被充分利用.
- 在患有心血管疾病的成年人中制定基因检测指南至关重要.
- 指导方针可以提高获得遗传服务的机会,改善医疗管理,澄清预后,并告知复发风险.
更多相关视频
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
11.0K
08:28Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
6.8K
相关概念视频
Human Genetics
559
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...
559
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
Behavioral Genetics and Its Designs
353
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...
353
Assessment of the Cardiovascular System I: Subjective Data
318
A thorough health history and physical assessment are essential for identifying cardiovascular disease (CVD) symptoms and distinguishing them from other health issues.
Initial Enquiry
Ask the patient about their primary concern and thoroughly explore all reported symptoms.
Medical History
Investigate past illnesses affecting the cardiovascular system, such as angina, anemia, rheumatic fever, congenital heart disease, stroke, thrombophlebitis, dysrhythmias, varicosities
Inquire about symptoms...
Initial Enquiry
Ask the patient about their primary concern and thoroughly explore all reported symptoms.
Medical History
Investigate past illnesses affecting the cardiovascular system, such as angina, anemia, rheumatic fever, congenital heart disease, stroke, thrombophlebitis, dysrhythmias, varicosities
Inquire about symptoms...
318
