{"id":4387,"date":"2026-11-13T23:04:25","date_gmt":"2026-11-13T18:04:25","guid":{"rendered":"https:\/\/ipp-news.com\/?p=4387"},"modified":"2026-11-13T23:04:25","modified_gmt":"2026-11-13T18:04:25","slug":"experts-call-for-national-policy-on-genetic-diseases-in-pakistan","status":"publish","type":"post","link":"https:\/\/ipp-news.com\/?p=4387","title":{"rendered":"Experts call for national policy on genetic diseases in Pakistan"},"content":{"rendered":"
\n

Medical experts on Friday called for affordable genetic screening, early diagnosis and specialised treatment facilities in Pakistan, warning that families affected by inherited disorders face significant challenges in accessing healthcare due to a lack of support systems.<\/strong><\/p>\n

The issue was highlighted at a one-day summit titled \u201cFuture Health 2035\u201d, organised by the Strive Eradication of Disability Foundation in collaboration with the Pakistan Poverty Alleviation Fund (PPAF).<\/p>\n

The summit brought together medical specialists, genetic scientists, healthcare professionals and families affected by inherited disorders to discuss developments in genomic science, genetic diagnosis and healthcare services.<\/p>\n

The event featured a conference and an exhibition showcasing advances in healthcare, with participants highlighting the need for greater attention to rare genetic diseases and specialised treatment facilities.<\/p>\n

During the discussions, experts expressed concern that families affected by genetic and rare diseases largely depended on personal resources and community support.<\/p>\n

Dr Salman Kirmani, Medical Geneticist at Aga Khan University Hospital, Karachi, said Pakistan lacked a national genetic institute and organised support systems for parents of children suffering from Spinal Muscular Atrophy (SMA).<\/p>\n

He said the government needed to give greater attention to genetic disorders, adding that rare diseases were not necessarily uncommon in Pakistan because of its large population and the prevalence of marriages within families.<\/p>\n

Dr Fizza Akbar, Genetic Counsellor at Aga Khan University Hospital, said around 60 per cent of marriages in Pakistan took place within families, increasing the risk of inherited disorders.<\/p>\n

She explained that when both parents carried the same genetic disorder, there was a 25 per cent probability of their child inheriting the condition.<\/p>\n

She said genetic disorders could be identified through early diagnosis and some conditions managed with medication, although many inherited diseases remained incurable.<\/p>\n

Dr Kirmani also highlighted the role of prenatal genetic testing in identifying certain inherited conditions during pregnancy, stressing the importance of timely diagnosis and appropriate medical counselling.<\/p>\n

Dr Jawad Hassan, Molecular Geneticist at Shifa International Hospital, said genetic disorders were often associated with disabilities and required specialised, multidisciplinary healthcare services.<\/p>\n

He regretted that such comprehensive facilities were available at only a limited number of tertiary care hospitals in Pakistan.<\/p>\n

Dr Isaac John, a healthcare professional with 40 years of international experience, said health and education were considered fundamental rights in many European countries, while Pakistan continued to face major challenges in healthcare financing and disease management.<\/p>\n

Consultant Paediatric Neurologist Dr Farhan Ali of Frontier Corps Teaching Hospital, Peshawar, said cases of SMA were increasingly being reported in clinical practice.<\/p>\n

He said he previously encountered around one or two patients monthly, but the number had increased to three or four, while many cases remained undiagnosed due to limited awareness and access to genetic testing.<\/p>\n

Sharing a clinical experience, he said a woman initially reported that three of her children had died of pneumonia, but further medical investigation revealed that they had been suffering from SMA.<\/p>\n

Haris Tariq, father of a four-year-old child with SMA, highlighted the financial and social difficulties faced by families dealing with the disease.<\/p>\n

He said the lack of public awareness made it difficult for affected families to seek financial assistance, as many people failed to understand the severity of the condition and the enormous cost of treatment.<\/p>\n

He added that even a few doses of certain medicines could cost millions of rupees, making long-term treatment unaffordable for middle-income families.<\/p>\n

Strive Chief Executive Officer Yasir Khan said genetic testing remained beyond the financial reach of approximately 99 per cent of Pakistan\u2019s population due to its high cost.<\/p>\n

He stressed that access to healthcare was a fundamental right, including for people suffering from rare diseases, and called for greater responsibility in providing specialised medical services.<\/p>\n

Both SMA and Duchenne Muscular Dystrophy (DMD) are inherited, progressive neuromuscular disorders that cause muscle weakness and affect mobility, although they have different genetic causes and clinical characteristics.<\/p>\n

The summit underscored the need for affordable genetic testing, specialised treatment facilities, public awareness and a coordinated national policy to improve the quality of life of people affected by inherited disorders.<\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

Medical experts on Friday called for affordable genetic screening, early diagnosis and specialised treatment facilities in Pakistan, warning that families affected by inherited disorders face significant challenges in accessing healthcare due to a lack of support systems. The issue was highlighted at a one-day summit titled \u201cFuture Health 2035\u201d, organised by the Strive Eradication of Disability Foundation in collaboration with the Pakistan Poverty Alleviation Fund (PPAF). The summit brought together medical specialists, genetic scientists, healthcare professionals and families affected by inherited disorders to discuss developments in genomic science, genetic diagnosis…<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[19],"tags":[],"class_list":["post-4387","post","type-post","status-publish","format-standard","hentry","category-english"],"gutentor_comment":0,"_links":{"self":[{"href":"https:\/\/ipp-news.com\/index.php?rest_route=\/wp\/v2\/posts\/4387","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ipp-news.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ipp-news.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ipp-news.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/ipp-news.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=4387"}],"version-history":[{"count":0,"href":"https:\/\/ipp-news.com\/index.php?rest_route=\/wp\/v2\/posts\/4387\/revisions"}],"wp:attachment":[{"href":"https:\/\/ipp-news.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=4387"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ipp-news.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=4387"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ipp-news.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=4387"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}