Medical Genetics for the Undiagnosed and Rare Patient: "Chasing Zebras".

Missouri medicine Pub Date : 2024-07-01
Kathleen Sisco, Michelle Oliva
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引用次数: 0

Abstract

The world of genetic testing continues to evolve as new technologies provide insight into previously unchartered territories. Access to genetic testing, especially for complex medical patients, could potentially improve the lives of thousands of individuals with undiagnosed conditions. Barriers to testing include financial and physical limitations, along with the emotional and social fortitude that is at times needed for vulnerable populations to agree to testing and participation in research. As healthcare providers, it is imperative that we adopt a wholistic approach to care so that we can arm our patients with the necessary resources to navigate their medical journey.

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未确诊和罕见患者的医学遗传学:"追逐斑马
随着新技术的不断发展,基因检测的世界也在不断进步,让人们可以深入了解以前未知的领域。接受基因检测,尤其是对病情复杂的病人进行基因检测,有可能改善成千上万未确诊患者的生活。检测的障碍包括经济和身体上的限制,以及弱势群体有时需要的情感和社会毅力,才能同意检测和参与研究。作为医疗服务提供者,我们必须采取全面的护理方法,这样才能为患者提供必要的资源,帮助他们走好医疗之路。
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CiteScore
2.30
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