遺傳護理新境界

The New Frontiers on Genetic Nursing

由於遺傳科學蓬勃發展，「遺傳護理學」也成為新興之專門學科。本文介紹「遺傳護理學」之內涵與應用之範疇，除了遺傳諮詢之外，尚包含對遺傳疾患整體生命週期（由胎兒、兒童至成人、老人）之護理，各種罕見遺傳疾病之照護，各種遺傳篩檢的應用，社會資源的運用，及政策發展的關注。遺傳護理人員之功能為協助罹患遺傳疾病患者及高危險群，維持健康狀況，提供遺傳諮詢及遺傳疾病相關的知識，並協助個人或家庭調適遺傳疾病所帶來的心理社會衝擊。臨床上遺傳護理已被運用於改善遺傳檢測知情同意、遺傳諮詢及過渡期之照護；社區護理亦運用遺傳護理於慢性疾病風險評估、家族性篩檢及早期診斷與治療。遺傳學與護理科學整合之研究蓬勃發展，逐漸構成遺傳護理學知識體系。文中並介紹遺傳護理相關組織（遺傳護理與諮詢協會The Association of Genetic Nurses and Counselors, AGNC；國際遺傳護理協會International Society of Nurses in Genetics, ISONG）之宗旨與功能。國內護理界因應基因體時代的來臨，應期許由研究、臨床服務及教育中發展本土化遺傳護理學，建構其為系統化且嚴謹的知識及臨床應用體系，以提供國人遺傳相關健康問題的適當照護。

Due to the active development of genetic science, the genetic nursing evolves gradually. This article introduced the content and application of genetic nursing. It consisted of genetic counseling and nursing care for the families with genetic disorders and rare diseases. The clients included fetus, infants, children, adolescents, adults, and elderly. The major role of genetic nurse, which focused on patients with genetic disorder and high risk population, was to maintain patients’ health, to provide adequate health education about genetic diseases, and to deal with psychosocial impact of genetic disease. Genetic nursing was applied to improve informed consent on genetic screening, genetic counseling, and the care of transactional period. In community, assessment of the risk of chronic disease, screening of family members, early diagnosis, and treatment were also included. The studies combining genetics and nursing have become the mainstream of genetic nursing knowledge system. The Association of Genetic Nurses and Counselors (AGNC) and the International Society of Nurses in Genetics (ISONG) were also introduced in this article. Facing the completion of human genome project, it is time to establish Taiwan’s genetic nursing knowledge system by conducting more relevant researches and providing clinical genetic nursing services and education when necessary.