Experts seek national strategy on genetic diseases and cheap screening

Medical specialists called on Friday for a national programme for genetic diseases, saying Pakistan has no national genetic institute and that testing costs put it out of reach of most families.

The demand came at a one-day summit, "Future Health 2035", organised in Islamabad by the Strive Eradication of Disability Foundation with the Pakistan Poverty Alleviation Fund. Doctors, genetic scientists and parents of affected children spoke at the conference, which was accompanied by an exhibition.

Dr Salman Kirmani, a medical geneticist at Aga Khan University Hospital in Karachi, said Pakistan had no national genetic institute and no organised support system for parents of children with spinal muscular atrophy (SMA). He said the government needed to give genetic disorders more attention, and that rare diseases were not necessarily uncommon in a country of Pakistan's population size, where marriage within families is widespread.

Dr Fizza Akbar, a genetic counsellor at the same hospital, put the share of marriages within families at about 60 percent. When both parents carry the same genetic disorder, she said, a child has a 25 percent chance of inheriting it. Some conditions can be identified early and managed with medicine, although many inherited diseases remain incurable.

Dr Kirmani also pointed to prenatal genetic testing as a way of identifying some inherited conditions during pregnancy, and stressed timely diagnosis and counselling.

Dr Jawad Hassan, a molecular geneticist at Shifa International Hospital, said genetic disorders are often linked to disability and need multidisciplinary care that only a limited number of tertiary hospitals in Pakistan provide.

Dr Farhan Ali, a consultant paediatric neurologist at Frontier Corps Teaching Hospital in Peshawar, said SMA cases are appearing more often in his clinic: he now sees three or four a month, against one or two before. Many cases go undiagnosed because awareness and access to testing are limited. He described a mother who said three of her children had died of pneumonia; investigation showed they had SMA.

Haris Tariq, whose four-year-old has SMA, said families struggle to find financial help because few people understand the severity of the condition. A few doses of some medicines cost millions of rupees, he said, which puts long-term treatment beyond middle-income households.

Yasir Khan, chief executive of Strive, said the cost of genetic testing keeps it out of reach of about 99 percent of Pakistan's population. Healthcare is a fundamental right, he said, including for people with rare diseases.

SMA and Duchenne Muscular Dystrophy are both inherited, progressive neuromuscular disorders that cause muscle weakness and affect movement, with different genetic causes.

Dr Isaac John, a health professional with 40 years of international experience, said European countries treat health and education as fundamental rights while Pakistan still faces major problems in financing healthcare and managing disease.