魁北克遗传医学网络中的社区遗传学和多样性尊严。

Charles R Scriver
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引用次数: 9

摘要

魁北克遗传医学网络(QNGM)成立于1971年,是一个综合性的社区遗传学项目,服务于加拿大魁北克省人口(约750万)。QNGM向社会事务部长报告,并在该省全民健康保险的保护伞下运作。该网络的项目由该省四所大学医学院的成员在一个中央委员会的指导下运作。QNGM从成立之初就获得了全球年度预算。在其众多项目中,QNGM支持:(1)两个新生儿筛查项目(血液和尿液样本),用于苯丙酮尿症、遗传性酪氨酸血症、先天性甲状腺功能减退等大量遗传性代谢疾病的早期诊断、治疗和研究;(2)在区域中心随访确诊性诊断测试,然后对门诊治疗方式进行监督;(3) Tay-Sachs和-地中海贫血疾病的携带者筛查和生殖咨询;(4)一系列可行性(研究)研究(例如,筛选生物素酶缺乏症、神经母细胞瘤、血红蛋白病和囊性纤维化),为政策决策提供信息。QNGM对其主要项目进行了经济分析,并遵循了流行的道德准则。它的全球预算和综合结构于1994年终止,尽管它的一些方案继续独立进行。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.

The Quebec Network of Genetic Medicine (QNGM), implemented in 1971, has been an integrated program of community genetics serving the population (approximately 7.5 million) of Quebec province in Canada. QNGM reported to the Minister of Social Affairs and operated under an umbrella of universal health insurance in the province. The Network's programs have been run by members of the four university medical schools of the province under the direction of a central committee. A global annual budget was awarded to QNGM from its inception. Among its many programs, QNGM supported: (1) two newborn screening programs (using blood and urine samples) for early diagnosis, treatment and research in phenylketonuria, hereditary tyrosinemia, congenital hypothyroidism, and in a large number of other hereditary metabolic diseases; (2) follow-up of confirmatory diagnostic tests at regional centers, followed by supervision of ambulatory treatment modalities; (3) carrier screening and reproductive counseling for Tay-Sachs and beta-thalassemia diseases; (4) a spectrum of feasibility (research) studies (e.g., screening for biotinidase deficiency, neuroblastoma, hemoglobinopathies, and cystic fibrosis) to inform policy decisions. QNGM performed economic analyses of its major programs and followed prevailing ethical guidelines. Its global budget and integrated structure terminated in 1994, although some of its programs continue independently.

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