ISLAMABAD: The growing role of genetic science in identifying and understanding inherited disorders came under focus at a one-day summit held on Friday, with speakers calling for improved genetic screening, diagnosis and healthcare services in Pakistan.
Organised by the Strive Eradication of Disability Foundation in collaboration with the Pakistan Poverty Alleviation Fund, the summit titled “Future Health 2035” brought together specialists from different medical and scientific fields. The event featured a conference and an expo showcasing advances in healthcare.
Panelists regretted that in cases of genetic and rare diseases, families mostly rely only on family support due to the absence of any national body.
Dr Salman Kirmani, Medical Geneticist at Aga Khan University Hospital, Karachi, said it was unfortunate that there was no national or community-level support for parents of children with Spinal Muscular Atrophy (SMA), as Pakistan lacked a national-level genetic institute similar to rare genetic organisations working internationally.
He said the government spent heavily on polio but not on diseases such as SMA. “Polio has now become a rare disease, while SMA is more common than polio,” he said.
Dr Kirmani said rare diseases were not rare in Pakistan because of the country’s large population and cousin marriages.
Dr Fizza Akbar, Genetic Counsellor at Agha Khan University Hospital, Karachi, said 60 per cent of the population married within families and the ratio was the highest among Muslim countries.
She said there was a 25 per cent chance of a child inheriting a genetic disorder if both parents were carriers. She added that the disease could be diagnosed early and managed with medications, but its transmission could not be stopped, nor could it be cured before or during conception.
Dr Kirmani said a prenatal test could diagnose the condition within 120 days of pregnancy and, if the test was positive, the pregnancy could be terminated. He said there was a decree of Jamia Al Azhar and ulema had consensus that pregnancy could be terminated in such life-threatening diseases.
Dr Jawad Hassan, Molecular Geneticist at Shifa International Hospital, said disability often accompanied genetic disease, and people with genetic diseases needed specialised and multidisciplinary care. However, he said such care was not available in Pakistan except in a few tertiary care hospitals.
Dr Isaac John, who has 40 years of international experience in health, said education and health were fundamental rights in Europe. In Pakistan, he said, due to budgetary constraints, major infectious diseases had not been dealt with, making the challenges huge.
Dr Farhan Ali, Consultant Pediatric Neurologist at Frontier Corps Teaching Hospital, Peshawar, said SMA cases were becoming quite common these days. He said earlier he used to see one to two patients in a month, but now he saw three to four patients every month.
He said many cases went unnoticed due to lack of diagnosis. Sharing an example, he said a woman came to him saying her three children had died of pneumonia, but after inquiry it turned out that they were patients of SMA.
Haris Tariq, parent of a four-year-old SMA child, said it was difficult to seek donations due to lack of awareness in society. He said people did not understand the severity of the disease, its lifelong consequences and the cost of expensive treatment.
“They often mock families, thinking that despite coming from middle-income backgrounds, they are asking for donations, with little knowledge that even a few doses of medicine cost millions, and that treatment is a lifelong cycle,” he said.
Strive CEO Yasir Khan said it was unfortunate that genetic tests were so expensive that 99 per cent of the population could not afford them. He asserted that it was the people’s right to get healthcare services even if the diseases were rare.
He said people should ask for their rights, adding that if Strive, being a small organisation, could support children, a government with unlimited resources should also do so. He appreciated the previous Khyber Pakhtunkhwa government, saying it was willing to arrange healthcare services for its people.
Speakers said both SMA and DMD were rare, inherited and progressive neuromuscular disorders that caused muscle weakness and affected mobility. However, they said the two conditions had different genetic causes and affected the body in different ways.
