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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
Genetics is a branch of science that studies the structure and function of genes, researching the heritage of genetic properties. Genomics is a new discipline that defines all genes working together, interacting with each other and environmental effects. Genomic science, with the completion of the human genomic project, has emerged as an extremely important science for all health professionals. In recent years, in the phase of disease prevention, scan, diagnosis, treatment and treatment effectiveness assessment, genomic information and technology has been used more frequently and genomic science has been more integrated with health care services. This state has revealed the concept of genomic health care, referred to as an advanced care based on genomic knowledge and technologies for early diagnosis and risk assessment, such as providing treatment options. Pediatric nurses are key members of the health care team that takes care of children with genetic diseases that may often require sleep in the hospital. They should be prepared to help asymptomatic children and families seeking more and more information about genetic diseases and their risks. They must have a sufficient level of genetic and genomic readiness to provide effective care in this scope. They take on the child’s protective, advocate and advisory roles. In the field of genetic health care, these roles can only be performed by being aware of their genetic/genomic knowledge, skills and integrated into health care. In this context, this article discusses the tasks and responsibilities of genetic/genomic concepts in pediatric nursing, education, clinical application and newborn scans.
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.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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