ISLAMABAD: Hundreds of families in Pakistan are struggling with inherited disorders without access to proper diagnosis, specialised treatment or financial support, as medical experts have warned that the country lacks a national-level institution to address genetic diseases, including Spinal Muscular Atrophy (SMA).
The issue came under discussion at a one-day summit titled “Future Health 2035” where geneticists, neurologists, healthcare professionals and families of patients called forgreater government investment in genetic screening, early diagnosis and specialised healthcare services.
Organised by the Strive Eradication of Disability Foundation in collaboration with the Pakistan Poverty Alleviation Fund, the summit featured a conference and an exhibition showcasing developments in healthcare and genomic science.
Speaking at the event, Dr Salman Kirmani, medical geneticist at Aga Khan University Hospital, said Pakistan had no national or community-level support system for parents of children suffering from SMA.
He regretted that while substantial government resources were being spent on polio eradication, little attention was being paid to genetic disorders such as SMA, which he said were more common than polio.
“Rare diseases are not rare in Pakistan because of our large population and the prevalence of consanguineous marriages,” he observed.
Fizza Akbar, a genetic counsellor, said around 60pc of marriages in Pakistan took place within families, a factor that increased the risk of inherited disorders. She explained that when both parents were carriers of a genetic condition, there was a 25pc probability of their child inheriting the disorder.
She said genetic conditions could be identified through early testing and some could be managed with medication, but many could neither be cured nor prevented through conventional treatment.
Dr Kirmani said prenatal testing could identify certain genetic conditions within 120 days of pregnancy.
He also referred to religious rulings permitting termination of pregnancy in cases involving serious, life-threatening genetic conditions. Dr Jawad Hassan, molecular geneticist at Shifa International Hospital, Islamabad, said genetic disorders often resulted in disability and required specialised, multidisciplinary care, which was available only at a handful of tertiary-care hospitals in Pakistan.
Dr Farhan Ali, consultant paediatric neurologist at Frontier Corps Teaching Hospital, Peshawar, said SMA cases were becoming increasingly common in his practice. Previously, he would see one or two patients a month, but the number had increased to three or four. He said many cases remained undiagnosed because of limited awareness and inadequate diagnostic facilities.
Recounting one case, he said a woman from Bajaur had approached him after losing three children to what she believed was pneumonia. Further examination revealed that the children had actually been suffering from SMA.
The human cost of the disease was also highlighted by Haris Tariq, father of a four-year-old girl with SMA.
He said families faced enormous difficulties in arranging funds for treatment, with even a few doses of medication costing millions of rupees. He regretted that a lack of public awareness often resulted in families being criticised for seeking donations, while people failed to understand the lifelong nature and enormous financial burden of the disease.
Strive chief executive Yasir Khan said genetic testing and treatment were so expensive that nearly 99pc of the population could not afford them. Dr Isaac John, a healthcare professional with 40 years of international experience, said health and education were recognised as fundamental rights in Europe, whereas Pakistan continued to struggle with limited resources and major healthcare challenges.
Published in Dawn, November 15th, 2026
