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It is difficult to diagnose rare disorders. Therefore, TFRD focuses on promoting genetic testing services within and outside Taiwan. The purpose is to assist patients with rare disorders to identify the etiology of their diseases, receive treatments early, and prevent the next generation from inheriting.
Besides assisting patients who required testing oversea through the “Cooperative Plan of Transferring Specimen Abroad for Genetic Testing,” TFRD also lobbied for “Subsidy Plan of Domestic Genetic Testing for Rare Diseases” from 2009. Although the government had passed the plan in 2011, only parts of the testing items are subsidized. In order to upgrade the prevention level for rare disorders, TFRD therefore subsidized the testing items that were not funded by the government.
The “Subsidy Plan of Domestic Genetic Testing for Rare Diseases” targets for the testing items that are high in demand, have stable and mature testing techniques, and receives fewer governmental resources.
TFRD had signed memorandum of cooperation with 12 medical centers, clinics and laboratories in 2017; providing 86 genetic testings for rare diseases, and 60% of the testing fee waiver. Within 373 cases that were suspected to be rare disorders, 132 were diagnosed. The diagnosed rate was 35.4%, and subsidized $1,769,030 NTD in total. From 2009 to 2017, TFRD has supported 2,810 cases for the genetic testing; 934 people were diagnosed with rare diseases, and subsidized $16,945,411 NTD in total.
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