研究背景: 血友病是一種遺傳性血液疾病。在台灣，因為醫療照護的普及與進步，血友病患的預期壽命較以往提高許多，雖然因血友病死亡的比例不高，但所造成之經濟負擔卻是很龐大。因此以預防角度，若是能及早檢測出帶因者並於產前進行遺傳檢測，將有利於提供更多醫療訊息給血友病家族做生育選擇。
研究目的:本研究欲探討台灣地區血友病帶因者檢測及進行產前診斷計畫之成本效果分析和最適價格，作為進行帶因者檢測及進行產前診斷政策的參考依據。
研究方法:使用醫療和社會觀點之決策樹模式，以帶因者進行帶因者檢測及產前診斷後造成疾病、經濟負擔，評估2009年血友病其帶因者檢測及產前診斷之決策。資料來源為中央健保局資料倉儲小型資料模型2009年住院及門診費用檔案，計算血友病患之疾病率與疾病成本，以此推估血友病之疾病與經濟負擔。在基準值分析後，進行敏感度分析，檢驗變數不確定性對模型的影響。
研究結果：實施血友病帶因者檢測和產前診斷計畫可以防止至少82位血友病患者出生。從社會觀點評估，帶因者檢測和產前診斷計畫可以節省新台幣33億元；以醫療觀點評估，則可以節省32億元。以台灣現行檢測價格進行估算，從社會觀點來看，執行檢測計畫下每預防一位疾病人數，檢測可節省4,079萬元；從醫療觀點來看，執行檢測計畫下每預防一位疾病人數，檢測可節省3,959萬元。
結論與建議：檢測計畫可以顯著降低台灣血友病造成的疾病負擔，且目前價格也可以達到節省成本。然而除了考量檢測的成本效果外，檢測所帶來的社會和醫療層面的效益，以及政府財源等因素也都需要被納入考量。

Background: Hemophilia is a genetic bleeding disorder. In Taiwan, because of the available and advance health care system, life expectancy increased over the past decade. Although hemophilia is not a leading cause of death, it cause huge economic burden in society. Therefore, the best measure of prevention is through accurate of carrier detection and prenatal diagnosis. These prevention measure also information to the hemophilia families for reproductive choices.

Objective: To explored the cost-effectiveness of hemophilia program of national carrier detection and prenatal diagnosis for in Taiwan.

Methods: From health care and societal perspectives, a decision tree model was used to assess the carrier detection and prenatal diagnosis for hemophilia program of 2009 carriers cohort by the disease burden and economic burden. The disease rate and cost data were estimated from the Bureau of National Health Insurance database in 2009. A sensitivity analysis was performed for all variables to examine the uncertainties of the model.

Result: This study found were prevention by the routine carrier detection and prenatal diagnosis of hemophilia program at least 82 hemophilia patients. At the current price of services for Taiwan, the total cost of carrier detection and prenatal diagnosis of hemophilia program was NT$11,576 million from health care perspective, therefore the incremental cost-effectiveness ratio(ICER) was NT$3,959 per episode averted. From societal perspective, the total cost of program was NT$11,919, the ICER is NT$4,079.

Conclusions: Implementation of hemophilia program of carrier detection and prenatal diagnosis is significantly to reduce the disease burden in Taiwan, and it is not only cost-saving and also effective.

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