Journal of Genetic Counseling

, Volume 22, Issue 6, pp 721–732

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

  • Myla Ashfaq
  • Farhana Amanullah
  • Ayesha Ashfaq
  • Kelly E. Ormond
Genetic Counseling: A Global Perspective


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.


Pakistan Karachi Genetics Genetic counseling Genetic counselors Thalassemia 


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Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Myla Ashfaq
    • 1
    • 2
  • Farhana Amanullah
    • 3
  • Ayesha Ashfaq
    • 4
  • Kelly E. Ormond
    • 2
    • 5
  1. 1.Department of Pediatrics Division of Medical GeneticsThe University of Texas Health Science Center at HoustonHoustonUSA
  2. 2.Department of GeneticsStanford UniversityStanfordUSA
  3. 3.The Indus HospitalDepartment of PediatricsKarachiPakistan
  4. 4.Lady Dufferin HospitalUltrasound DepartmentKarachiPakistan
  5. 5.Stanford Center for Biomedical EthicsStanford UniversityStanfordUSA

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