Genetik danışmanlık ve önemi
Makaleler > Tam Makale · 2011
Yazarlar: Mehmet Burak DURMAZ, Asude DURMAZ, Feriştah Ferda ÖZKINAY, Muhsin Özgür ÇOĞULU
Cumhuriyet Tıp Dergisi/Cumhuriyet Üniversitesi Tıp Fakültesi dergisi, Uluslararası, 2011, cilt 33, ss 259-265
DOI: 10.7197/cmj.v33i2.1008000572
Özet
Ozet Genetik hastaliklar, canlilarin genomik materyallerinde olusan anormallikler nedeniyle meydana gelen hastaliklardir. Kusaktan kusaga aktarilabilecegi gibi, sadece ortaya ciktigi bireyle de sinirli kalabilir. Her insan belli bir genetik hastalik riski tasimakla birlikte bazi ailelerde bu risk daha fazla olarak gozlenmektedir. Gunumuzde genetik biliminde saglanan gelismelere paralel olarak bu alana talep, hem toplumsal hem de tip alaninda gittikce artis gostermektedir. Bu durum genetik danismanlik olarak adlandirilan, bireylerin kendilerinde, ailelerinde, ileride dogacak cocuklarinda mevcut veya ortaya cikabilecek genetik hastaliklar hakkinda her turlu bilgi verme islemini cok onemli hale getirmektedir. Genetik danismanlik, genetik hastaliklarin taninmasi ortaya cikabilecek tedavi yontemlerinin uygulanmasi, aile planlamasi gibi durumlarda onemli bir yere sahiptir. Ulkemizde universite hastaneleri, devlet hastaneleri ve bazi ozel merkezler dahilinde genetik tani merkezleri bulunmaktadir. Genetik danismanlik hizmeti almak uzere merkezlere basvuran bireyler, bu bireyleri yonlendiren doktorlar ve diger saglik hizmeti gorevlileri gun gectikce genetik ve genetik danismanlik surecinin onemini anlamakta ve daha cok kisinin bu hizmeti almasini saglamaktadirlar. Bu derlemede genetik danismanlik konusu, ulkemiz ve dunyadaki durumu guncel literatur bilgileri isiginda sunulmaktadir. Anahtar sozcukler: Genetik danismanlik, genetik servisler, genetik test Abstract Genetic diseases occur due to abnormalities consisting in the genomic material of the living beings. It may transmit from one generation to the other but it may also be limited only in the affected individual. Everyone carries a risk for a particular genetic disease but a greater risk is observed in some families. Today, in parallel with the development in genetics, an increasing demand from the public and medical field is present. This situation brings importance of informing individuals, their families and their children of their present or future genetic conditions, a process called genetic counseling. Although there is no treatment for most of the genetic diseases, genetic counseling has an important role in conditions such as family planning, diagnosis of genetic diseases and possible novel treatment protocols. In our country, there are genetic centers based in the university hospitals, state hospitals and private medical centers. The importance of genetics and genetic counseling is gradually being understood by the people who have been referred for genetic counseling, and by the physicians and other health care workers who refer those providers to the genetic centers. They ensure more individuals receive this service as well. In this review, genetic counseling, its status in our country and in the world is presented widely with up-to-date literature. Keywords: Genetic counseling, genetic services, genetic testing