Publication: Ailesel meme kanseri risk gruplarında genetik danışmanlık: Türkiye'de mevcut durum ve bir öneri
Abstract
ÖZET Giriş: Meme kanseri Türk kadınları arasında en yaygın olan kanserdir. BRCA1 ve BRCA2 tümör supresör genlerinin bu kanserin ailesel olduğunu açıklayan belirteç olduğunun gösterilmesiyle beraber presemptomatik dönemde yapılacak olan genetik değerlendirme, danışmanlık hizmetleri ve genetik risk bilgisine talep artmaktadır. Amaç: Bu çalışmanın amacı ailesel meme kanseri açısından yüksek riskli kişiler ve yakınlarına, multidisipliner olarak sunulması önerilen genetik ve cerrahi hizmetler ile danışmanlıkta var olan durumu ortaya koyarak önerilerde bulunmaktır. Materyal-Metod: Bu kesitsel tanımlayıcı çalışmaya, hizmet sunumu için model olduğu kabul edilen devlet Üniversitelerinin hastaneleri dahil edilmiştir. Aynı araştırmacı tarafından ilgili birimlerin sorumlu uzmanları ile yapılan görüşmelerde yarı yapılandırılmış bir soru formu eşliğinde veri toplanmıştır Bulgular: 40 üniversite hastanesinin 17’sinde (17/ 40, %42.5) ayrı bir meme hastalıkları polikliniği vardır. Bunların 16’sı multidisipliner olarak Kendilerini tanımlamış, 5’i tümör konseyi, 5’i (5/ 16, %35) ise Meme Çalışma Grubu olarak daha spesifik bir isim kullandıklarını ve çalışma grubunun ortak bir algoritması olduğunu belirtmiştir. Aynı çalışma grupları çok disiplinli araştırmalar yapmış, yapmakta ya da planlamaktadırlar. Çalışma şeklini multidisipliner olarak tanımlayan merkezlerin 11'inde (11/ 16, %70) psikolojik destek sunulmaktadır. Ancak bu görüşme sadece konsültasyon isteği olduğunda sağlanmaktadır. Çalışmaya katılan Tıp Fakültelerinin 33’ünde Tıbbi Biyoloji ve Genetik/ Tıbbi/ Klinik Genetik vardır. Dokuzu meme gruplarıyla işbirliği içindedir ve 3’ü genetik bilgilendirme/ danışmanlık hizmeti verdiğini beyan etmiştir. Sonuç: Türkiye’de Üniversite hastanelerimizde bile meme kanserine yaklaşım henüz çok disiplinli değildir. Meme kanseri erken tanınması ve korunması en iyi aydınlatılmış tümörlerden olmasına rağmen risk değerlendirmesi ve tarama konuları radyodiyognostik yöntemlerin kullanılması ile sınırlıdır. Merkezlerimiz “danışmanlık”, risk değerlendirmesi ve genetik test hizmetleri sunma aşamasına gelememiştir. Bu konuda çalışan profesyoneller, hizmet sunumunun niteliğini arttırdığı gösterilmiş olan genetik danışmanlık ve risk değerlendirme konularının tanı şemalarına eklenmesine öncü olmalıdırlar. Anahtar Sözcükler; meme kanseri, danışmanlık, risk değerlendirmek, ailesel, genetik risk
ÖZET GENETIC CONSULTANCY FOR WOMEN WHO HAVE RISK OF FAMILIAL BREAST CANCER: BASELINE SITUATION IN TURKEY AND A MODEL SUGGESTION Background: Breast cancer is the most common cancer among Turkish women in which BRCA1 and BRCA2 tumor suppressor genes explain most of familial cases. Consequently, there is a growing demand for genetic assessment, provision of genetic risk information and genetic counseling with possible presymptomatic testing. Aim: This study aims to report actual prospective baseline data about the multidisciplinary genetic and surgical assessment and counseling of familial breast cancer patients and their close relatives and to make a suggestion. Method: Public University Hospitals are included in this cross-sectional descriptive study as they are accepted role models for the health services. Data is collected by the same researcher with a semi structured questionnaire during interviews with the specialist responsible for the related clinics. Results: In 17 of the 40 University hospitals (17/ 40, 42.5%) there were “Outpatient Breast Diseases Clinics”. Six teen of the outpatient clinics were defined themselves multidisciplinary, 5 declared their task as “tumor committee/ counsel”, and 5 (5/ 16, 35%) preferred to use a more specific name as “Breast Working Group”. These working groups mentioned that they have a common guideline/ algorithm to follow. They made, still going on or at least plan a multidisciplinary research. Eleven of the multidisiplinary outpatient breast diseases clinics (11/ 16, 70%) provide psychological support for the patients but in case of consultancy. Among the participated medical faculties, 33 have Medical Biology and Genetics/ Clinical Genetics Departments. Nine have collaboration with breast groups and 3 mentioned that they offer genetic risk information/ consultancy. Conclusion: Approach to breast cancer is not multidisciplinary even in Universities in Turkey. Although screening and prevention of breast cancer is one of the best illuminated, risk assessment and screening is still limited with the radiodiagnostic procedures. Turkish centers are not offering satisfactory services in genetic tests, risk assessment and “consultancy”. Before the increase of the need, health professionals working on breast cancer must lead to implement the genetic counseling and risk assessment topics to diagnostic algorithms which were proven to be effective. breast cancer, counselling, risk assessment, familial, genetic risk
ÖZET GENETIC CONSULTANCY FOR WOMEN WHO HAVE RISK OF FAMILIAL BREAST CANCER: BASELINE SITUATION IN TURKEY AND A MODEL SUGGESTION Background: Breast cancer is the most common cancer among Turkish women in which BRCA1 and BRCA2 tumor suppressor genes explain most of familial cases. Consequently, there is a growing demand for genetic assessment, provision of genetic risk information and genetic counseling with possible presymptomatic testing. Aim: This study aims to report actual prospective baseline data about the multidisciplinary genetic and surgical assessment and counseling of familial breast cancer patients and their close relatives and to make a suggestion. Method: Public University Hospitals are included in this cross-sectional descriptive study as they are accepted role models for the health services. Data is collected by the same researcher with a semi structured questionnaire during interviews with the specialist responsible for the related clinics. Results: In 17 of the 40 University hospitals (17/ 40, 42.5%) there were “Outpatient Breast Diseases Clinics”. Six teen of the outpatient clinics were defined themselves multidisciplinary, 5 declared their task as “tumor committee/ counsel”, and 5 (5/ 16, 35%) preferred to use a more specific name as “Breast Working Group”. These working groups mentioned that they have a common guideline/ algorithm to follow. They made, still going on or at least plan a multidisciplinary research. Eleven of the multidisiplinary outpatient breast diseases clinics (11/ 16, 70%) provide psychological support for the patients but in case of consultancy. Among the participated medical faculties, 33 have Medical Biology and Genetics/ Clinical Genetics Departments. Nine have collaboration with breast groups and 3 mentioned that they offer genetic risk information/ consultancy. Conclusion: Approach to breast cancer is not multidisciplinary even in Universities in Turkey. Although screening and prevention of breast cancer is one of the best illuminated, risk assessment and screening is still limited with the radiodiagnostic procedures. Turkish centers are not offering satisfactory services in genetic tests, risk assessment and “consultancy”. Before the increase of the need, health professionals working on breast cancer must lead to implement the genetic counseling and risk assessment topics to diagnostic algorithms which were proven to be effective. breast cancer, counselling, risk assessment, familial, genetic risk