LAHORE: Declaring genetic disorders a “silent pandemic”, the Pakistan and German medical experts say that nearly 50 percent of the mortality in infancy is linked to the high rate of consanguinity in Pakistan.

Sharing the outcome of a joint study presented in a symposium arranged by the Children’s Hospital Lahore, the senior medics from Germany pointed out an alarmingly-high rate of genetic disorders among the local population, adding that the percentage of consanguinity ranged from 78percent to even 100pc in some rural areas.

Sponsored by the German government and Arcensus institute (Germany), the symposium was organised at the Anne Marie Schimmel Institute on The Mall with a theme “Genetic Matters to Everyone”.

“We have so far performed tests of 30,000 families, including children, in all the four provinces of the country and Islamabad. The results show over 70pc of them were carriers”, says Prof Huma Arshad Cheema, the head of the Department of Pediatric Gastroenterology of Children’s Hospital Lahore. She also played a key role in Pakistan to launch country-wide investigations into the burden of the diseases related to various genetic disorders.

Experts blame cousin, same-caste marriages

Talking to Dawn, she says, the study has highlighted that the cousin and same-caste marriages are wreaking havoc by increasing the number of children with disabilities in Pakistan.

“I am not against cousin marriage or marriage in the same cast, but I would strongly suggest taking doctor’s advice for risk assessment before taking such decisions”, she says, adding that the pre-marriage screening tests should be declared mandatory.

Unfortunately, she says, there is no facility for testing patients for any genetic disease in the country. “The access to diagnosis is limited as genetic testing is highly expensive and no public sector hospital offers free testing for genetic diseases in Pakistan”, she says.

A leading private hospital in Karachi is sending blood samples to a foreign country for the diagnosis of any genetic disorder. Similarly, two private hospitals of Lahore are also availing the same facility abroad, she says, adding that each test costs Rs300,000, which is highly expensive.

“We provided this facility to the patients free of cost and have done tests of 300,000 individuals from all over the country”, Prof Huma says. The tests were performed in collaboration with German partners Prof Arndt Rolfs and Prof Peter Beur at Arcensus and the Centogene (Germany). The results turned out to be alarming as over 70 percent of them were found carrying some sort of genetic disorder linked to diseases like cancer and liver, kidney and neurological ailments etc, she says.

“If preventive measures are not taken and awareness is not created at public and private sector hospitals, we will be heading to a disaster”, Prof Huma warned.

She further says the joint team of senior doctors from Germany and Pakistan set up camps at Children’s Hospital Lahore, besides facilities at Multan, Islamabad, Karachi and other parts of the country to examine such patients.

“In Lahore’s Children Hospital we examined nearly 200 families, including children, since March 20”, she says, adding that the pregnancy screening and other tests showed over 50 percent of them were careers of genetic diseases.

‘Pakistan has a huge burden of genetic diseases due to high rate of consanguinity. The quoted rate of consanguinity [in Pakistan] ranges from 78pc to even 100pc in some rural areas” Prof Huma says. It is estimated that 50pc of mortality in infancy is caused by genetic diseases in Pakistan, she adds.

She stressed the need for adopting a multi-pronged approach to raise awareness, improve diagnostic facilities and access to treatment and prenatal diagnosis of genetic diseases.

Addressing the symposium, Arcensus Chief Executive Officer Prof Rolfs spoke about the impact of the genetic disorders and the measures being taken for prevention in Pakistan.

He says the cooperation between Pakistani hospitals and Arcensus is not new. “Over the last year, Arcensus has diagnosed genetic disorders in more than 2,000 Pakistani children with the help of advanced genetic testing technique called Whole Genome Sequencing (WGS) free of cost to help them and their families live a better life.”

“As Arcensus CEO and founder, I believe this symposium is only the beginning of an even closer cooperation”, he said.

University of Child Health Sciences Vice Chancellor Prof Masood Sadiq announced that he was going to approve establishment of a genetic institute at the varsity. He highlighted the huge donations being given to the liver unit of the Children’s Hospital Lahore for treatment of such patients.

Cricket legend Misbaul Haq spoke to the affected families and vowed to become an ambassador for raising awareness about the issue.

Published in Dawn, March 28th, 2022