Pediatri Hemşireliğinde Genetik/Genomik

Öz

Genetik, genlerin yapı ve işlevlerini inceleyen, genetik özelliklerin kalıtımını araştıran bilim dalıdır. Genomik, tüm genlerin birlikte çalışmasını, birbirleriyle etkileşimlerini ve çevresel etkilerini tanımlayan yeni bir disiplindir. Genomik bilim, insan genom projesinin tamamlanmasıyla, tüm sağlık profesyonelleri için son derece önemli bir bilim olarak ortaya çıkmıştır. Son yıllarda hastalıkların önlenmesi, tarama, tanı, tedavi ve tedavi etkinliğinin değerlendirilmesi aşamasında genomik bilgi ve teknolojilerin daha sık kullanıldığı ve genomik biliminin sağlık hizmetlerine daha fazla entegre olduğu görülmektedir. Bu durum bazi hastalıklarda daha erken tanı ve risk değerlendirmesinin saglanmasi, tedavi seçenekleri sunmak gibi için genomik bilgi ve teknolojiler temelinde geliştirilmiş bir bakım olarak belirtilen genomik sağlık bakım kavramı ortaya çıkarmıştır. Pediatri hemşireleri, sıklıkla hastanede yatmayı gerektirebilecek genetik hastalıkları olan çocuklara bakım veren sağlık ekibinin kilit üyesidir. Genetik hastalık ve riskleri hakkında giderek daha fazla bilgi arayan asemptomatik çocuklara ve ailelere yardım etmeye hazırlıklı olmalıdırlar. Bu kapsamda etkin bakım sunabilmeleri için yeterli genetik ve genomik okuryazarlık düzeyine sahip olmalıdırlar. Çünkü onlar çocuğun koruyucu, savunucu ve danışmanlık rollerini üstlenmektedirler. Genomik sağlık bakımı kapsamında bu rolleri ancak genetik/genomik bilgilerinin, yeterliliklerinin farkında olarak ve sağlık bakımına entegre ederek yerine getirebilirler. Bu kapsamda, bu makalede pediatri hemşireliğinde genetik/genomik kavramlarının görev ve sorumluluklar, eğitim, klinik uygulama ve yenidoğan taramaları konulari tartışılmıştır

Anahtar Kelimeler

• Pediatri
• Hemşire
• genetik/genomik

Genetics / Genomic in Pediatric Nursing

Öz

Genetics is a branch of science that studies the structure and functions of genes and investigates the inheritance of genetic traits. Genomics is a new discipline that describes how all genes work together, interact with each other, and their environmental impact. Genomic science has emerged as an extremely important science for all healthcare professionals, with the completion of the human genome project. In recent years, it has been observed that genomic information and technologies are used more frequently in the stages of disease prevention, screening, diagnosis, treatment and evaluation of treatment efficiency, and that genomics science is more integrated into health services. This situation is explained by the concept of genomic health care, which is defined as a care developed to use genomic information and technologies to provide early intervention, rapid and accurate diagnosis and risk assessment for genetic diseases. Pediatric nurses are key members of the healthcare team that often caring for children with genetic diseases that may require hospitalization. They must be prepared to assist asymptomatic children and families who are increasingly seeking information about genetic disease and its risks. In this context, it is expected that they should gain genetic and genomic literacy in order to provide effective care. Because they take on the child's protective, advocacy and counseling roles. They can fulfill these roles within the context of genomic healthcare only by being aware of their genetic / genomic knowledge, competencies and integrating them into health care. In this context, it will be useful to evaluate the genetics / genomic concepts in pediatric nursing by considering the duties and responsibilities, education, clinical practice and neonatal screening.

Anahtar Kelimeler

• Pediatric
• Nursing
• genetic/genomic

Kaynakça

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