ISLAMABAD: Medical and scientific experts at a one-day summit on Friday called for stronger attention to genetic healthcare in Pakistan, stressing the need for improved screening, timely diagnosis and specialised services for inherited disorders.<\/p>\n
The summit, titled Future Health 2035, was organised by the Strive Eradication of Disability Foundation in collaboration with the Pakistan Poverty Alleviation Fund. It included a conference and an expo highlighting developments in the healthcare sector.<\/p>\n
Specialists from various medical and scientific disciplines discussed inherited disorders, genetic diagnosis and new developments in genomic science. The panelists expressed concern that families dealing with genetic and rare diseases are largely left to depend on family support because no national body exists for such conditions.<\/p>\n
Dr Salman Kirmani, Medical Geneticist at Aga Khan University Hospital, Karachi, said it was unfortunate that parents of children with Spinal Muscular Atrophy (SMA) had no national or community-level support. He said Pakistan lacked a national-level genetic institute similar to rare genetic disease organisations working internationally.<\/p>\n
He said the government spent heavily on polio but not on diseases such as SMA. He noted that polio had now become a rare disease, while SMA was more common than polio. Dr Kirmani added that rare diseases were not rare in Pakistan because of the country\u2019s large population and cousin marriages.<\/p>\n
Dr Fizza Akbar, Genetic Counsellor at Agha Khan University Hospital, Karachi, said 60 percent of Pakistan\u2019s population married within families, adding that the ratio was the highest among Muslim countries.<\/p>\n
She said if both parents were carriers, there was a 25 percent chance that their child could inherit a genetic disorder. She said such diseases could be diagnosed early and managed with medicines, but their transmission could not be stopped and they could not be cured before or during conception.<\/p>\n
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 Jamia Al Azhar had issued a decree and ulema had consensus that pregnancy could be terminated in such life-threatening diseases.<\/p>\n
Dr Jawad Hassan, Molecular Geneticist at Shifa International Hospital, said genetic diseases often brought disability with them. He said people with genetic diseases required specialised and multidisciplinary care, which was not available in Pakistan except at a few tertiary care hospitals.<\/p>\n
Dr Isaac John, who has 40 years of international experience in health, said education and health were fundamental rights in Europe. He said that in Pakistan, due to budgetary constraints, the country had not been able to deal with major infectious diseases, making the challenges very large.<\/p>\n
Dr Farhan Ali, Consultant Pediatric Neurologist at Frontier Corps Teaching Hospital, Peshawar, said SMA cases were becoming quite common. He said he earlier saw one to two patients a month, but now saw three to four patients monthly. He added that many cases remained unnoticed because of lack of diagnosis.<\/p>\n
He said a woman once came to him saying her three children had died of pneumonia, but after inquiry it emerged that they had been SMA patients.<\/p>\n
Haris Tariq, parent of a four-year-old child with SMA, said it was difficult to seek donations because of 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.<\/p>\n
\u201cThey 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,\u201d he said.<\/p>\n
Strive CEO Yasir Khan said genetic tests were so expensive that 99 percent of the population could not afford them. He said access to healthcare services was the right of the people, even if the diseases were rare.<\/p>\n
He said people should demand their rights, adding that if Strive, as a small organisation, could support children, then a government with unlimited resources could also do so. He appreciated the previous Khyber Pakhtunkhwa government, saying it had been willing to arrange healthcare services for its people.<\/p>\n
Experts said both SMA and Duchenne Muscular Dystrophy (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.<\/p>\n","protected":false},"excerpt":{"rendered":"
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