Öz
Özet
Genetik hastalıklar, canlıların genomik materyallerinde oluşan anormallikler nedeniyle meydana gelen hastalıklardır. Kuşaktan kuşağa aktarılabileceği gibi, sadece ortaya çıktığı bireyle de sınırlı kalabilir. Her insan belli bir genetik hastalık riski taşımakla birlikte bazı ailelerde bu risk daha fazla olarak gözlenmektedir. Günümüzde genetik biliminde sağlanan gelişmelere paralel olarak bu alana talep, hem toplumsal hem de tıp alanında gittikçe artış göstermektedir. Bu durum genetik danışmanlık olarak adlandırılan, bireylerin kendilerinde, ailelerinde, ileride doğacak çocuklarında mevcut veya ortaya çıkabilecek genetik hastalıklar hakkında her türlü bilgi verme işlemini çok önemli hale getirmektedir. Genetik danışmanlık, genetik hastalıkların tanınması ortaya çıkabilecek tedavi yöntemlerinin uygulanması, aile planlaması gibi durumlarda önemli bir yere sahiptir. Ülkemizde üniversite hastaneleri, devlet hastaneleri ve bazı özel merkezler dahilinde genetik tanı merkezleri bulunmaktadır. Genetik danışmanlık hizmeti almak üzere merkezlere başvuran bireyler, bu bireyleri yönlendiren doktorlar ve diğer sağlık hizmeti görevlileri gün geçtikçe genetik ve genetik danışmanlık sürecinin önemini anlamakta ve daha çok kişinin bu hizmeti almasını sağlamaktadırlar. Bu derlemede genetik danışmanlık konusu, ülkemiz ve dünyadaki durumu güncel literatür bilgileri ışığında sunulmaktadır.
Anahtar sözcükler: Genetik danışmanlık, 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
Anahtar Kelimeler
Kaynakça
- Stevenson RE. Causes of human anomalies: an overview and historical perspective. In: Stevenson RE, Hall JG, Goodman RM (Eds). Human malformations and related anomalies. Vol I. New York, NY: Oxford University Press 1993; pp 3-71.
- Watson EK, Shickle D, Qureshi N, Emery J, Austoker J. The 'new genetics' and primary care: GPs' views on their role and their educational needs. Fam Pract 1999; 16: 420-5.
- Hunter A, Wright P, Cappelli M, Kasaboski A, Surh L. Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients. Clin Genet 1998; 53: 447-55.
- Menasha JD, Schechter C, Willner J. Genetic testing: a physician's perspective. Mt Sinai J Med 2000; 67: 144-51.
- Wright C, Kerzin-Storrar L, Williamson PR, Fryer A, Njindou A, Quarrell O, Donnai D, Craufurd D. Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics. J Med Genet 2002; 39: e84.
- Wang C, Gonzalez R, Merajver SD. Assesment of genetic testing and related counseling services: current research and future directions. Soc Sci Med 2004; 58: 1427-42.
- Tomatir AG, Sorkun HC, Demirhan H, Akdağ B. Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey. Genet Med. 2007; 9: 130-5.
- Tomatir AG, Sorkun HC, Demirhan H, Akdag B. Nurses' professed knowledge of genetics and genetic counseling. Tohoku J Exp Med 2006; 210: 321-32.
- Tunçbílek E, Koc I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994; 58: 321-9.
- Özdemir H, Alper Z, Bilgel N. Consanguineous marriages in a suburb of a metropolitan city: a study from Bursa, Turkey. Turkiye Klinikleri J Med Sci 2009; 29: 1235-41.
- National Society of Genetic Counselors' Definition Task Force, Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 2006; 15: 77-83.
- Esmer C, Urraca N, Carnevale A, Del Castillo V. Patient follow-up is a major problem at genetics clinics. Am J Med Genet A 2004; 125A: 162-6.
- Michie S, Marteau TM, Bobrow M. Genetic counselling: the psychological impact of meeting patients' expectations. J Med Genet 1997; 34: 237-41.
- Wright C, Kerzin-Storrar L, Williamson PR, Fryer A, Njindou A, Quarrell O, Donnai D, Craufurd D. Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics. J Med Genet 2002; 39: e84.
- Stewart AL, Keay AJ, Smith PG. Congenital malformations; a detailed study of 2500 liveborn infants. Ann Hum Genet 1969; 32: 353-60.
- Majnemer A, Shevell MI. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr 1995; 127: 193-9.
- Durmaz B, Alpman A, Pariltay E, Akgul M, Ataman E, Kirbiyik O, Cogulu O, Ozkinay F. The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey. Genet Test Mol Biomarkers 2009; 13: 163-6.
- McPherson E. Genetic diagnosis and testing in clinical practice. Clin Med Res 2006; 4: 123-9.
- Heller K. Genetic counseling: DNA testing for the patient. Proc (Bayl Univ Med Cent) 2005; 18: 134-7.
- Marteau TM, Dormandy E, Michie S. A measure of informed choice. Health Expect 2001; 4: 99-108.
Öz
Genetic diseases occur due to abnormalies 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 to inform individuals, their families and their children of their present or future genetic conditions, a process called genetic counseling. There is no treatment for most of the genetic diseases, however it is important to follow the possible novel traetment protocols and diagnosis of the diseases is possible with genetic counseling. In our country, there are genetic centers based in the university and private hospitals. People that refer for genetic counseling, physicans and other health care workers that refer those people to those centers understand the importance of genetics and genetic counseling and they ensure more and more individuals to receive this service. In this review, genetic counseling, its status in our country and in the world is presented widely with up to date literature.
Anahtar Kelimeler
Kaynakça
- Stevenson RE. Causes of human anomalies: an overview and historical perspective. In: Stevenson RE, Hall JG, Goodman RM (Eds). Human malformations and related anomalies. Vol I. New York, NY: Oxford University Press 1993; pp 3-71.
- Watson EK, Shickle D, Qureshi N, Emery J, Austoker J. The 'new genetics' and primary care: GPs' views on their role and their educational needs. Fam Pract 1999; 16: 420-5.
- Hunter A, Wright P, Cappelli M, Kasaboski A, Surh L. Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients. Clin Genet 1998; 53: 447-55.
- Menasha JD, Schechter C, Willner J. Genetic testing: a physician's perspective. Mt Sinai J Med 2000; 67: 144-51.
- Wright C, Kerzin-Storrar L, Williamson PR, Fryer A, Njindou A, Quarrell O, Donnai D, Craufurd D. Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics. J Med Genet 2002; 39: e84.
- Wang C, Gonzalez R, Merajver SD. Assesment of genetic testing and related counseling services: current research and future directions. Soc Sci Med 2004; 58: 1427-42.
- Tomatir AG, Sorkun HC, Demirhan H, Akdağ B. Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey. Genet Med. 2007; 9: 130-5.
- Tomatir AG, Sorkun HC, Demirhan H, Akdag B. Nurses' professed knowledge of genetics and genetic counseling. Tohoku J Exp Med 2006; 210: 321-32.
- Tunçbílek E, Koc I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994; 58: 321-9.
- Özdemir H, Alper Z, Bilgel N. Consanguineous marriages in a suburb of a metropolitan city: a study from Bursa, Turkey. Turkiye Klinikleri J Med Sci 2009; 29: 1235-41.
- National Society of Genetic Counselors' Definition Task Force, Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 2006; 15: 77-83.
- Esmer C, Urraca N, Carnevale A, Del Castillo V. Patient follow-up is a major problem at genetics clinics. Am J Med Genet A 2004; 125A: 162-6.
- Michie S, Marteau TM, Bobrow M. Genetic counselling: the psychological impact of meeting patients' expectations. J Med Genet 1997; 34: 237-41.
- Wright C, Kerzin-Storrar L, Williamson PR, Fryer A, Njindou A, Quarrell O, Donnai D, Craufurd D. Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics. J Med Genet 2002; 39: e84.
- Stewart AL, Keay AJ, Smith PG. Congenital malformations; a detailed study of 2500 liveborn infants. Ann Hum Genet 1969; 32: 353-60.
- Majnemer A, Shevell MI. Diagnostic yield of the neurologic assessment of the developmentally delayed child. J Pediatr 1995; 127: 193-9.
- Durmaz B, Alpman A, Pariltay E, Akgul M, Ataman E, Kirbiyik O, Cogulu O, Ozkinay F. The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey. Genet Test Mol Biomarkers 2009; 13: 163-6.
- McPherson E. Genetic diagnosis and testing in clinical practice. Clin Med Res 2006; 4: 123-9.
- Heller K. Genetic counseling: DNA testing for the patient. Proc (Bayl Univ Med Cent) 2005; 18: 134-7.
- Marteau TM, Dormandy E, Michie S. A measure of informed choice. Health Expect 2001; 4: 99-108.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Derlemeler |
| Yazarlar | |
| Yayımlanma Tarihi | 20 Haziran 2011 |
| Yayımlandığı Sayı | Yıl 2011Cilt: 33 Sayı: 2 |