目前基因研究和基因醫療在國內正如火如荼地進行，每年政府都投入龐大的經費至基因研究，但其中關於罕見疾病之研究數量極為有限。本文主要是針對基因檢測與遺傳諮詢進行探討，企圖從罕見疾病患者的角度出發，探討其所需的項目。最後本文也提出保障罕見疾患者權益的政策建議，希望政府能重視這些「弱勢中的弱勢」。

There is no doubt that the revolution in human genomic research has led to a rapid expansion in genomic medicine. Each year, our government invests vast amount of money into the National Research Program for Genomic Medicine. However, based on the number of projects funded in 2003, there were not many projects targeting special needs of rare disease patients. These special needs include a variety of genetic testing, medicine and drugs, and a high quality of genetic counseling. This paper not only aims at addressing these patients' need for quality genetic counseling, but also proposes guidelines that protect the rights of these patients.