遺傳／罕見疾病簡介與遺傳諮詢的運用

朱紹盈; 翁純瑩

doi:10.6224/JN.000063

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P11 - 17

医药卫生 > 预防保健与卫生学
医药卫生 > 社会医学

DOI： 10.6224/JN

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遗传／罕见疾病简介与遗传谘询的运用

Introduction to Genetic/Rare Disease and the Application of Genetic Counseling

朱绍盈(Shao-Yin Chu) ；翁纯莹(Chun-Ying Weng)

护理杂志； 64 卷 5 期 (2017 / 10 / 01) ， P11 - 17

繁体中文 DOI： 10.6224/JN.000063

遗传／罕见疾病；遗传性；遗传谘询； genetic disease/rare disease ； heritability ； genetic counseling

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Genetic disease or hereditary disease is a group of disorders that is caused by mutations in an individual's genome. The mutated genome or gene may be transmitted through the germ line during reproduction, causing certain recurrence risk in offspring and other family members. The heritability of these disorders is thus an important issue to deal with clinically. In Taiwan, a rare disease is defined as a disease that is prevalent in fewer than 1 in 10,000 individuals. As up to 80% of rare disease cases in Taiwan are genetic disease disorders, genetic disease may not rare. The pathophysiology of genetic/ rare disease is very complicated. Individual disorders may have their own unique mechanisms (such as Fragile X syndrome), with most of these mechanisms still unclear or unknown. The symptoms and signs of genetic/rare disease thus present the greatest variabilities and cause difficulties in making diagnoses. Most related patients may present multiple congenital anomalies, metabolic disorders, growth and developmental delays, defects in cognition, neuromuscular abnormalities, and defects in vision, hearing or other organ functions. Symptomatic and supportive treatment still comprise a major component of treatment of genetic/rare disease (with the exception of special formulae for several inborn errors of metabolic disease and enzyme replacement therapy in some lysosomal storage disease). Poor self-care ability is common and the burden on caregivers is huge. Most rare disease patients are treated using a comprehensive rehabilitation program that begins during very early childhood, receive individual educational programs, and are continuously monitored with regard to their growth, developmental, and nutritional status. Inter-professional patient care, genetic counseling, and the creation of family support networks play an important role in family management. Public awareness and the creation of appropriate social systems and resources allocation are mandatory for proper care. The incidence of each genetic/rare disease is rare, but collectively they are important public health issue and a challenge to medical care.

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Trudeau Institute. (n.d.). Dr. Edward Livingston Trudeau. Retrieved from http://trudeauinstitute.org/dynamicPages/template.cfm?ID=140&navTable=tier2nav
国民健康署（2015，1月28日）．新生儿先天性代谢异常疾病筛检项目公告．取自https://www.hpa.gov.tw/Pages/Detail.aspx?nodeid=499&pid=397 [Health Promotion Administration, Taiwan, ROC. (2015, January 28). Neonatal screen list metabolic of inborn errors. Retrieved from https://www.hpa.gov.tw/Pages/Detail.aspx?nodeid=499&pid=397]
National Human Genome Research Institute. (2015, November 10). Frequently asked questions about genetic disorders. Retrieved from https://www.genome.gov/19016930/FAQAbout-Genetic-Disorders
Stöppler, M. C. (2016). What is a genetic disease? Retrieved from MedicineNet.com website: http://www.medicinenet.com/genetic_disease/article.htm#what_is_a_genetic_disease
国民健康署（2015，5月29日）．新生儿先天性代谢异常疾病筛检∼作业手册（采集机构版本）104 年修订版．取自ttps://www.hpa.gov.tw/Pages/Detail.aspx?nodeid=499&pid=405 [Health Promotion Administration, Taiwan, ROC. (2015, May 29). Operation manual for neonatal screen metabolic of inborn errors- 2015 revised. Retrieved from https://www.hpa.gov.tw/Pages/Detail.aspx?nodeid=499&pid=397]

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