Healthcare experts have urged Pakistan to make genetic screening affordable and improve early diagnosis of inherited diseases. They warned that expensive tests and limited government support leave thousands of patients struggling to access appropriate treatment.
Speakers at a one-day summit in Islamabad highlighted the growing challenges faced by families affected by genetic and rare diseases. They particularly raised concerns about children living with progressive conditions such as spinal muscular atrophy (SMA).
The experts explained that many inherited disorders remain undiagnosed because families cannot afford specialised testing. Consequently, parents often face significant financial and emotional pressure while caring for children with complex medical needs.
The summit, titled Future Health 2035, was organised by the Strive Eradication of Disability Foundation in collaboration with the Pakistan Poverty Alleviation Fund. It brought together medical specialists, scientists, healthcare professionals and affected families to discuss inherited disorders and developments in genomic science. An accompanying exhibition also showcased healthcare advancements.
Why Pakistan Needs Affordable Genetic Screening
Dr Salman Kirmani, a medical geneticist at Aga Khan University Hospital in Karachi, highlighted the lack of national support for families affected by SMA.
He said Pakistan lacked a national-level institution or community support system for families raising children with the condition. As a result, many parents depend on relatives and private assistance to manage treatment expenses.
Kirmani also questioned the government’s healthcare priorities, comparing its substantial investment in polio eradication with limited attention to SMA.
He described SMA as more common in Pakistan than polio and emphasised the need for greater recognition of inherited diseases.
“Rare diseases are not rare in Pakistan,” Kirmani said, citing the country’s large population and high prevalence of marriages between close relatives as contributing factors.
Consanguineous Marriages Increase Genetic Health Concerns
Dr Fizza Akbar, a genetic counsellor at Aga Khan University Hospital, highlighted the relationship between marriages within families and inherited conditions.
She estimated that approximately 60 per cent of marriages in Pakistan occurred between relatives. She also described this proportion as among the highest in Muslim-majority countries.
Akbar explained that children face a 25 per cent risk of inheriting a genetic disorder when both parents carry the relevant genetic mutation.
Therefore, genetic screening and counselling can help families understand potential risks before having children.
She also highlighted the importance of prenatal diagnosis in identifying certain inherited conditions. Early detection allows doctors and families to understand available options and make informed decisions.
Although some genetic conditions can be managed through medication, treatment does not necessarily cure the underlying disorder. Nor does it automatically prevent the condition from passing to future generations.
Kirmani added that prenatal testing could identify certain genetic conditions within the first 120 days of pregnancy. He also referred to an Al-Azhar religious decree and scholarly consensus permitting pregnancy termination in cases involving life-threatening diseases.
Limited Diagnostic Facilities Leave Patients Without Proper Care
Dr Jawad Hassan, a molecular geneticist at Shifa International Hospital, highlighted another major healthcare challenge. He explained that genetic disorders often cause disabilities and require specialised, multidisciplinary medical attention.
However, only a limited number of tertiary-care hospitals in Pakistan provide these services. Consequently, many patients struggle to access the different specialists and medical support they require.
Dr Isaac John, who has 40 years of international healthcare experience, also discussed Pakistan’s healthcare limitations.
He said European countries recognised health and education as fundamental rights. However, Pakistan’s limited resources continued to complicate efforts to address even major infectious diseases.
“The challenges are huge,” he said, highlighting budgetary constraints and weaknesses in healthcare provision.
More Children With SMA Remain Undiagnosed
Dr Farhan Ali, a consultant paediatric neurologist at Frontier Corps Teaching Hospital in Peshawar, reported an increase in children presenting with SMA.
He said he previously encountered one or two patients each month. However, he now sees approximately three to four cases monthly.
Ali warned that inadequate diagnostic facilities could leave many affected children unidentified.
He also shared the case of a woman whose three children had died from what doctors initially considered pneumonia. Further examination indicated that the children had actually suffered from SMA.
The case highlighted how insufficient diagnosis can prevent families from understanding the actual causes of serious childhood illnesses.
Families Struggle With Millions in Treatment Costs
Beyond medical challenges, families affected by rare genetic conditions face significant financial and social difficulties.
Haris Tariq, whose four-year-old child has SMA, described the difficulties of arranging funds for treatment. He said limited public awareness made it harder for families to explain the disease and its long-term consequences.
He added that people sometimes criticised parents for requesting donations without understanding the enormous medical expenses involved.
“Even a few doses of medicine cost millions, and treatment is a lifelong cycle,” he said.
The financial burden becomes particularly difficult when families require repeated medication and long-term specialised care.
Experts Demand Government Support for Genetic Testing
Strive Chief Executive Yasir Khan said genetic testing remained unaffordable for most Pakistanis. He estimated that approximately 99 per cent of the population could not afford these tests.
Khan argued that healthcare should remain accessible regardless of how uncommon a particular disease might be. He also questioned the government’s limited support for affected families.
He pointed out that even a small organisation such as Strive was helping children with genetic conditions. Therefore, he questioned why government institutions could not provide more substantial assistance.
Khan also praised a previous Khyber Pakhtunkhwa government for showing willingness to arrange healthcare services for residents. Furthermore, he encouraged citizens to demand better access to medical treatment.
Stronger National Strategy Needed for Rare Diseases
Spinal muscular atrophy and Duchenne muscular dystrophy (DMD) are inherited, progressive neuromuscular disorders. Both conditions cause muscle weakness and can affect mobility, although they have different genetic causes.
Their diagnosis and management require specialised medical attention and appropriate healthcare facilities.
The experts called for stronger government involvement and affordable genetic screening across Pakistan. They also stressed the importance of improving diagnostic facilities and expanding access to specialised treatment.
Additionally, they urged authorities to develop a coordinated national response to inherited and rare diseases. Such efforts could help families receive earlier diagnoses and better medical support.
Their discussions at Future Health 2035 highlighted an important healthcare concern: genetic conditions cannot receive proper attention without accessible testing, informed families and sustained public-sector support.
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