Özgür ÇOĞULU, Asude Alpman DURMAZ, Ferda ÖZKINAY, Burak DURMAZ

Genetik danışmanlık ve önemi

Genetik hastalıklar, canlıların genomik materyallerinde oluşan anormallikler nedeniyle meydanagelen hastalıklardır. Kuşaktan kuşağa aktarılabileceği gibi, sadece ortaya çıktığı bireyle de sınırlıkalabilir. Her insan belli bir genetik hastalık riski taşımakla birlikte bazı ailelerde bu risk dahafazla olarak gözlenmektedir. Günümüzde genetik biliminde sağlanan gelişmelere paralel olarak bualana talep, hem toplumsal hem de tıp alanında gittikçe artış göstermektedir. Bu durum genetikdanışmanlık olarak adlandırılan, bireylerin kendilerinde, ailelerinde, ileride doğacak çocuklarındamevcut veya ortaya çıkabilecek genetik hastalıklar hakkında her türlü bilgi verme işlemini çokönemli hale getirmektedir. Genetik danışmanlık, genetik hastalıkların tanınması ortaya çıkabilecektedavi yöntemlerinin uygulanması, aile planlaması gibi durumlarda önemli bir yere sahiptir.Ülkemizde üniversite hastaneleri, devlet hastaneleri ve bazı özel merkezler dahilinde genetik tanımerkezleri bulunmaktadır. Genetik danışmanlık hizmeti almak üzere merkezlere başvuran bireyler,bu bireyleri yönlendiren doktorlar ve diğer sağlık hizmeti görevlileri gün geçtikçe genetik vegenetik danışmanlık sürecinin önemini anlamakta ve daha çok kişinin bu hizmeti almasınısağlamaktadırlar. Bu derlemede genetik danışmanlık konusu, ülkemiz ve dünyadaki durumugüncel literatür bilgileri ışığında sunulmaktadır.

Genetic counseling and its importance

Genetic diseases occur due to abnormalities consisting in the genomic material of the livingbeings. It may transmit from one generation to the other but it may also be limited only in theaffected individual. Everyone carries a risk for a particular genetic disease but a greater risk isobserved in some families. Today, in parallel with the development in genetics, an increasingdemand from the public and medical field is present. This situation brings importance of informingindividuals, their families and their children of their present or future genetic conditions, a processcalled genetic counseling. Although there is no treatment for most of the genetic diseases, geneticcounseling has an important role in conditions such as family planning, diagnosis of geneticdiseases and possible novel treatment protocols. In our country, there are genetic centers based inthe university hospitals, state hospitals and private medical centers. The importance of geneticsand genetic counseling is gradually being understood by the people who have been referred forgenetic counseling, and by the physicians and other health care workers who refer those providersto 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-dateliterature.

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