Editorial

Clinical Genetics and Genetic Counselling in Pakistan

Muhammad Aslamkhan

Muhammad Aslamkhan
University of Health Sciences, Lahore. Email: dr_aslamkhan@mail.com
Online First: April 02, 2015 | Cite this Article
Aslamkhan, M. 2015. Clinical Genetics and Genetic Counselling in Pakistan. Journal of Genes and Cells 1(1-2): 31-33. DOI:10.15562/gnc.17


Monogenic hereditary diseases are diseases caused by defects in genes and currently it has been estimated that there are more than 10,000 monogenic diseases with a global prevalence of 10/1000 at birth. According to estimation more than 350 million people are affected by monogenic genetic diseases globally. Thalassemia, sickle cell anaemia, colour blindness, haemophilia, deafness, etc., are some examples of monogenic hereditary diseases.  Pakistan is among the countries which are on high alert for rapid increase or such genetic disorders. The reasons for high prevalence of hereditary disorder are many: one is consanguinity due to cultural preference of   cousin marriages and mate selection from near or distant blood relatives. Thus 80 percent consanguinity in Pakistan, is perhaps the highest in the world.  The incidence of genetic diseases at birth can be reduced through introduction of premarital genetic counselling as a part of healthcare system. Genetic counselling and premarital genetic testing should be practiced in Pakistan to stop this rapidly increasing burden of hereditary diseases.

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