KARACHI: The rate of cousin marriages – a major reason for genetic disorders – in Pakistan is very high. The country also faces a serious shortage of required facilities for diagnosis and trained professionals to deal with these health issues.

These points were highlighted at a seminar titled “Introduction to Medical Genetics” organised by the Professional Development Center of Dow University of Health Sciences (DUHS).

Emphasising the need for creating awareness on how cousin marriages could affect foetal development, Dr Misbah Hanif, assistant professor of clinical genetics at DUHS, said babies from cousin marriages were at a higher risk of developing genetic disorders.

“This happens as a result of certain genetic mutations that occur in cases of cousin marriages,” she explained.

She referred to conservative estimates, suggesting that 90 percent of genetic disorder cases in Pakistani children were linked to cousin marriages.

Highlighting the challenges Pakistan faces in this field, she said there was an acute shortage of resources and trained professionals.

In addition, she pointed out social and cultural barriers, including the negative impact on families having a child with a genetic disorder, fear of discrimination within the family, and financial constraints that prevent families from seeking quality treatment and care for the child.

Sharing a case study, Dr Hanif said that a 21-year-old female patient was diagnosed with a genetic disease called Turner’s syndrome.

“The girl was intellectually fine but facing many difficulties due to short stature, infertility, and social problems related to the genetic disease. But her mother was only concerned about her marriage,” she recalled, adding that a paediatric genetic clinic was being established at DUHS.

Prof Ammarah Jamal and Dr Amber Kamran also spoke.

Published in Dawn, July 9th, 2024