Genetic Awareness and Genetic Testing in Pakistani Population

Abstract

Genetic disorders are an emerging public health issue in Pakistan, further aggravated by one of the highest rates of consanguineous unions in the world (~70%), resulting in a higher incidence of autosomal recessive disorders like beta-thalassemia, metabolic disorders, and mental retardation. However, the nation is seriously deficient in genetic healthcare providers, with just two qualified geneticists catering to a population of over 220 million. The current research seeks to assess public knowledge and attitudes toward genetic testing and inherited disorders in Pakistan using a descriptive cross-sectional study. 109 participants were surveyed, finding that 78.89% knew about genetic testing, while 87.15% reported willingness to participate in genetic testing if it is available. Additionally, 87.15% agreed on implementing pre-marital genetic testing for the prevention of inherited diseases. These results highlight a strong public interest in genetic services, even in the face of an underdeveloped genetic healthcare infrastructure in the country. The research emphasizes the imperative for policy formulation and the development of integrated genetic counseling and testing services, as well as investment in the education of genetic professionals. This paper offers practical recommendations on the gaps in genetic healthcare and proposes ways to address these gaps to reduce the burden of genetic disorders in Pakistan.

Keywords: Genetic diseases, consanguineous marriages, beta-thalassemia, metabolic disorders, mental retardation, genetic testing, genetic counseling, premarital genetic screening, public education, inherited illnesses, Pakistan, clinical genetics.