新加坡对影响甲状腺、甲状旁腺和肾上腺的遗传性内分泌病进行基因筛查所面临的挑战。

IF 2.5 Q1 MEDICINE, GENERAL & INTERNAL
Diluka Pinto, Mechteld C de Jong, Rajeev Parameswaran
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引用次数: 0

摘要

人们对许多人类疾病,尤其是癌症的认识取得了重大进展,这有助于改善和提高生存率。人类基因组计划 "和 "癌症基因组图谱 "项目开创了一个新时代,从分子层面了解了遗传性疾病,从而促进了精准医疗的选择。精准医疗有助于在个体层面做出治疗决定,例如在晚期疾病的手术治疗或靶向治疗方面。尽管以基因为先导的精准医疗取得了越来越多的进展,但这并没有转化为越来越多的患者接受。究其原因,可能是临床医生潜在的知识差距;也可能是基因检测接受度低的原因,如文化、宗教或个人信仰;还可能是财务影响,如缺乏保险公司的支持。在这篇综述中,我们将探讨新加坡对影响甲状腺、甲状旁腺和肾上腺的常见遗传性内分泌疾病进行基因筛查的现状,以及与之相关的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Challenges in genetic screening for inherited endocrinopathy affecting the thyroid, parathyroid and adrenal glands in Singapore.

Significant progress has been made in the understand-ing of many human diseases, especially cancers, which has contributed to improved and increased survival. The Human Genome Project and The Cancer Genome Atlas project brought about a new era, with an understanding of inherited diseases at a molecular level, which subsequently facilitated the option of precision medicine. Precision medicine has helped tailor treatment decisions at an individual level, for instance in terms of surgical treatments or targeted therapies in advanced diseases. Despite the increasing advances in genetic-lead precision medicine, this has not translated into increasing uptake among patients. Reasons for this may be potential knowledge gaps among clinicians; on reasons for poor uptake of genetic testing such as for cultural, religious or personal beliefs; and on financial implications such as lack of support from insurance companies. In this review, we look at the current scenario of genetic screening for common inherited endocrine conditions affecting the thyroid, parathyroid and adrenal glands in Singapore, and the implications associated with it.

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