Genetic diseases have a significant impact on humans. If patients do not receive necessary medical treatment promptly and appropriately, it can cause irreparable harm to their health and life. There may be over a hundred thousand genes operating in these types of cells, and any problem with the expression of a single gene can have serious consequences. The number of known single-gene inherited diseases has exceeded 10,000. Although these diseases are individually rare, their variety is extensive, making the total number of affected individuals considerable.
There are various types of genetic diseases, and the ability of healthcare professionals to handle these diseases is usually limited. Even for genetic specialists, each individual case is a new challenge that requires significant time and effort. Due to the multiple types of genetic diseases and the relatively small number of cases per type, obtaining the necessary testing equipment and drugs for medical treatment from ordinary sources is difficult. The high consumption of medical materials means that only a few physicians can secure the support of medical institutions to engage in this work.
Because the establishment of genetic medicine is extremely difficult, professionals work silently under challenging conditions. This makes cooperation between medical institutions difficult, and the connection between doctors needs to be strengthened. There are often duplications or omissions in research work, and the referral pipeline for patients and specimens is often obstructed. Securing resources from the government and society can also be challenging.
The loose connection within the genetic medical community makes it difficult for grassroots doctors and the general public to effectively access genetic disease medical resources. A crucial challenge is the inability of patients to be quickly referred to specialized physicians. For metabolic disorders, delayed diagnosis often results in death or serious sequelae. The most worrying aspect is that genetic diseases often have a high recurrence rate. If people don't realize the severity of the situation, parents might unknowingly have more children with the same genetic disease, perpetuating the tragedy.
When genetic disease physicians explain rare diseases to the public, they often find it extremely challenging due to the lack of effective incidence rates of genetic diseases in Taiwan. This also causes significant inconvenience when publishing papers or conducting research. Moreover, seeking genetic medical resources from the government and society becomes an unavoidable problem. Without these data, the development of genetic medicine in Taiwan will be severely restricted.
To promote the well-being of Taiwanese patients and significantly improve the academic standards of genetic medicine, the genetic medical community has united to establish the Taiwan Human Genetics Society. Through the operation of this society, we hope to establish a nationwide genetic medical information and rare disease registration system. The members of society will gather a large number of resources and, through the implementation of conferences, inform the public about where to obtain medical treatment for genetic diseases. This will also help grassroots doctors understand how to refer patients with genetic diseases and allow genetic specialists to effectively utilize resources from other medical institutions. Additionally, genetic counseling centers and specialists will be able to develop their expertise, integrate, and efficiently utilize genetic disease medical resources, providing a basis for the formulation and implementation of policies by the competent health authority.