Genetic Counseling

It is predicted that 21st century to be a new genetic era. As genetic diseases are constantly mutating and being discovered, genetic specialists faces a daunting task of finding a cure for each individual. As a result, doctors are unable to satisfy all their patients' needs or to answer all their inquiries. 

In many countries we can find teams of medical specialists who serve patients of genetic illnesses. These specialists include medical doctors, genetic counselors, nutritionists, social workers and psychologists. When we look at the current medical system in Taiwan, even though a few teaching hospitals or medical centers have filled the positions of genetic specialists, nutritionists, psychologists, social workers, etc., the role of genetic counsellors, which is very important and specific in the followup of genetic counselling, is still missing. Therefore, the confirmation of the expertise of genetic counsellors is an important role in the network of genetic counselling. 

Since 2001, together with the Taiwan Human Genetic Society, Dr. Wu-Liang Hu of National Taiwan University Hospital and Dr. Shuan-Pei Lin of Mackay Memorial Hospital, TFRD integrated the Human Resources subsidies fund, as provided by the Council of Labor Affairs, Executive Yuan, to conduct an one-year Genetic Counselling Training Program. We hire graduating students from areas relevant to genetic studies as genetic counsellors. They make clinical rounds at National Taiwan University Hospital and Mackay Memorial Hospital and receive on-field training by genetic specialists. Additionally, they assist patients and doctors with relevant services, connecting the patients and the hospital workers. 

The foundation also set up the “National Rare Diseases Service Center”, with plans to promote such cooperation models to the genetic health counselling centers in central, southern and eastern Taiwan and set up an initial genetic counselling network. 

Up to 2024, there are 14 genetic counselling centers established in various medical centers and teaching hospitals in Taiwan. The Bureau of Health Promotion has evaluated medical facilities to assure the quality of genetic counseling centers.

Genetic Testing

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 11 medical centers, clinics and laboratories in 2023; providing 58 genetic testings for rare diseases. Within 454 cases that were suspected to be rare disorders, 178 were diagnosed. The diagnosed rate was 39.2%, and subsidized $3,165,400 NTD in total. From 2009 to 2023, TFRD has supported 5,204 cases for the genetic testing; 1,857 people were diagnosed with rare diseases, and subsidized $31,677,317 NTD in total.