消费者发起的生殖基因检测健康风险的环境扫描
Hannah G Kirby1, Heidi L Rehm2, Leland E Hull3
1Boston University, Boston, MA, USA.
Mayo Clinic proceedings
|August 26, 2023
概括
消费者基因测试提供了各种健康风险选择. 然而,很少有直接面向消费者的测试评估影响临床护理的条件,突出了可访问的遗传健康信息的差距.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 消费者健康 消费者健康
- 医疗保健服务研究 医疗服务研究
背景情况:
- 越来越多的患者可以直接向消费者 (DTC) 进行基因测试,因此需要了解其临床效用.
- 医疗保健提供者面临着越来越多的问题,涉及DTC基因测试对健康风险的解释.
- 可用的DTC生殖系遗传测试选项的多样性和范围需要描述.
研究的目的:
- 标志着消费者发起的健康风险生殖基因检测选项的市场多样性.
- 为了确定DTC遗传测试公司之间的内容和流程的变化.
主要方法:
- 进行了DTC生殖系遗传测试公司的环境扫描,这些公司在美国市场上可用.
- 包括2019年10月1日至2021年9月30日期间可用的测试,评估至少一个可诊断的健康状况.
- 对21家公司提供74种不同的测试产品的测试内容和公司流程进行了表征.
主要成果:
- 在21家公司的74种不同的DTC基因测试产品的内容和过程中存在显著的变化.
- 只有少数公司 (在21家中只有8家) 提供了评估美国疾病控制和预防中心 (CDC) 一级条件的测试.
- 疾病预防控制中心 (CDC) 的1级疾病具有临床护理影响,并制定了基于证据的检测和管理指南.
结论:
- DTC遗传测试市场表现出相当多样的多样性,但有限数量的测试解决了具有直接临床影响的疾病.
- 这突显了消费者获得遗传信息的潜在差距,这些遗传信息可以显著地告知临床护理和管理.
- 需要进一步的研究来评估DTC遗传测试产品的临床实用性和解释支持.
相关概念视频
Genome-wide Association Studies-GWAS
13.6K
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...
13.6K
Behavioral Genetics and Its Designs
405
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...
405
Cancer Prevention
6.2K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.2K
What is Genetic Engineering?
74.3K
Overview
74.3K
Mutagenicity and Carcinogenicity
1.3K
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
1.3K
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


