The Views of Pakistani Doctors Regarding Genetic Counseling Services – Is there a Future?

Abstract

Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master's level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master's level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100% (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic's clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1%), discussing genes associated with breast cancer (77.4%), and explaining the inheritance pattern of β-thalassemia (65.5%). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98%) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3%) and to help explain carrier screening results (94.1%). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8%), followed by specialist MDs (26%) and general physicians (22.9%). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.