罕见病，是对那些发病率为0.65%。至1%。之间疾病的称呼，在中国这个人口大国，罕见病患者其实并不罕见。在日前召开的海峡两岸罕见疾病医疗学术及政策研讨会上，专家呼吁，有的罕见病并不是“贵族病”，年治疗费用仅为6000元。可优先考虑将临床确诊并能有效治疗的罕见病纳入医疗保障体系。

Rare disease，For those who are 0.65% incidence。To 1%。Between the disease called，In China, the most populous country，Rare disease actually not rare。Held a few days ago strait rare disease of academic and policy seminar on health care，Experts called for，Some rare disease and not“Noble disease”，Years treatment costs only $6000。Priority will be to clinical diagnosis and treatment can effectively the rare disease into the medical security system。

　　罕见病并不罕见 Rare disease is not rare

　　国际上已发现7000多种罕见病，大约占人类疾病种类的10%。因此，尽管单病种患病率很低，但由于疾病种类很多，患者群体庞大，罕见病并不罕见。约有50%的罕见病在出生时或者儿童期即发病，病情常进展迅速，死亡率很高。

International found on 7000 many kinds of rare disease，About 10% of the species of human disease。so，Although single disease rates are very low，But because the disease is a lot of，Patients with large groups，Rare disease is not rare。About 50% of the rare disease in birth or of childhood is，Disease often progression，Mortality is high。

　　上海医学会罕见病专科学会李定国教授表示，很多人错误地认为家族里以前没有人得过罕见病，所以和自己没有关系，但事实上大部分罕见病是由于遗传缺陷引起的，缺损的基因碰在一起，罕见病就有可能发生。换言之，罕见病不是一个单独的群体和数字，每一个人都有可能碰上。

Shanghai medical association rare disease specialist learn to LiDingGuo professor said，Many people mistakenly believe that no one in the family had before a rare disease，So and his no relationship，But in fact most of the rare disease is due to genetic defects cause，Gene defect of the touch together，Rare disease is possible。In other words，Rare disease is not a single group and digital，Each one has a may meet。

　　目前大部分医务人员对罕见病缺乏治疗经验和研究，误诊率高。北京、上海、广州等主要城市正在积极推进建立罕见病诊疗中心，北京医学会罕见病专科分会有望在年内成立。

Most of the current medical staff for rare disease lack of treatment experience and research，The misdiagnosis rate high。Beijing、Shanghai、Guangzhou and other major cities is actively promoting establish rare disease diagnosis and treatment center，Beijing medical association rare disease specialist branch was established in years is expected to。

　　建议把罕见病纳入医保 Suggested that the rare disease into medical care

　　北京市医疗保险中心主任黄旭明介绍，罕见病的治疗没有纳入医保报销目录。目前能够临床确诊并有效治疗的罕见病，有的每年治疗费用仅需6000元，比如多种羧化酶缺乏病、肝豆状核变性、原发性肉碱缺乏症等，发病率从五万分之一到十万分之一，年治疗费用仅为6000元。当然也有治疗费用比较高的，如戈谢病和法布雷病，年治疗费用为70万元至200万元。从医疗保障的层次看，应努力把罕见病纳入社会医疗保险范畴。从卫生筹资结构来看，医疗保险体系具备一定的能力来覆盖部分费用较高的罕见病，可以把目前能够临床确诊并有效治疗的罕见病优先纳入社会保障，要建立罕见病认定和就诊管理机制，实行按人头付费。

Beijing medical insurance, director of the center HuangXuMing introduced，Rare disease not included in the treatment of medical insurance reimbursement directory。At present clinical diagnosis and treatment can effectively the rare disease，Some treatment costs only $6000 a year，Like many carboxylase (rubisco) lack of disease、Wilson、Primary carnitine deficiency, etc，From one over fifty thousand to one over one hundred thousand incidence，Years treatment costs only $6000。Of course also have treatment costs more，Such as gaucher disease of disease and mine，Years of treatment in cost is 700000 yuan to 2 million yuan。From the level of medical security watch，Efforts should be made to the rare disease into social medical insurance category。From health financing structure and see，Medical insurance system have certain ability to cover part of the higher cost of rare disease，Can put is now able to clinical diagnosis and effective treatment of rare disease first into the social security，To establish a rare disease acknowledgment and clinic management mechanism，On a per head pay。

　　应重视新生儿疾病筛查 Should attach importance to the neonatal illness screening

　　黄旭明同时建议，罕见病应以预防为主，要重视新生儿疾病筛查，筛查费用纳入医保支付范围。从1989年至2009年，20年间北京市共筛查182万新生儿，确诊先天性甲状腺功能低下514例、苯丙酮尿症203例，717个家庭免于灾难。

HuangXuMing also suggest，Rare disease should be prevention，Attention should be paid to the neonatal illness screening，Screening cost into medical insurance pay limits。From 1989 to 2009，In the 20 years of Beijing 1.82 million newborn screening，Diagnosis of congenital low thyroid function in 514 cases、Benzene acetone urine 203 cases of disease，717 families from disaster。

　　卫生经济学和卫生政策研究博士张崖冰也建议，完善现有医疗保险制度，把罕见病纳入门诊大病，建立罕见病专项救助基金。同时要加强遗传咨询、产前诊断和新生儿筛查，建议利用强大的计划生育工作网络，在计划人口数量的同时更重视提高人口质量。(孙颖)

Health economics and health policy research also suggests dr zhang cliff ice，Improve existing medical insurance system，The rare disease into the outpatient service a serious illness，Establish rare disease special assistance funds。And at the same time strengthen genetic consultation、Prenatal diagnosis and newborn screening，Suggest using powerful family planning work network，In the plan of the population and pay more attention to improve population quality。(SunYing)