LAHORE: Leading German neurologist Prof Dr Arndt Rolfs says about 16 million people, mostly children, are living in Pakistan with any form of a rare genetic disorder.

“The data represents worldwide the highest frequency in a country for these diseases,” Prof Rolfs told Dawn here on Tuesday.

Prof Rolfs, German healthcare and genetic diagnostics organisation Arcensus’s chief executive officer, was on a visit to Pakistan along with his team members. He shared the disturbing figures about the individuals living with rare genetic disorders in the country after organising testing camps at major cities including Peshawar, Islamabad, Rawalpindi, Multan and Lahore. The team attended hundreds of patients and their families for the diagnosis of the rare genetic disorders free of cost.

Arcensus also organised the first symposium “Genetics Matters to Everyone” together with Prof Dr Huma Cheema of the Children’s Hospital & Institute of Child Health in Lahore at Anne Marie Schimmel Institute. The event was meant to raise awareness and find solutions to the “silent pandemic” of genetic diseases often caused by the high rate of consanguinity in Pakistan.

The event was joined by former Pakistan cricket team captain Misbahul Haq, former German hockey player Stefan Blocher and Pakistan hockey coach Siegfried Aikman who participated as “Ambassadors for Genetics”.

German neurologist offers ‘first rare disease centre’ at Children’s Hospital

While concluding his sessions/activities in Lahore and other cities here on Tuesday, Prof Rolfs announced that he was willing to establish ‘first rare disease centre’ in collaboration with German and Punjab governments at Children’s Hospital, Lahore. He said the German government would spend most of the funds required to establish the centre which would provide an access to diagnosis of the genetic disorders and clinical trial.

“We would provide training to the human resource to enable them to run the medical and surgical equipment,” Prof Rolfs said. He described this huge problem for Pakistan as mostly based on the extremely high frequency of cousin marriages.

“A genetic disease appears when a partner carries a change (mutation) in a gene associated with an illness and the other partner has the same mutation; the child inherits two copies of this gene, and thus develops a disorder,” he said. The likelihood of such a genetic disease is a lot higher if both partners are related, e.g. cousins, Prof Rolfs said.

“Not only it is a huge burden on affected families but also on the healthcare system and on society in general,” he said.

According to the World Health Organization (WHO), the genetic diseases are causing 12-14 per cent damage to Pakistan’s economy, he said.

The German neurologist declared that early diagnosis of genetic diseases was crucial for the future of Pakistani generations to live a longer and healthier life. According to him, the first step is to educate people about the impact of cousin marriages on genetic diseases for children. “The next step is to introduce clinical screening by a trained professional,” he said.

Prof Dr Huma Cheema, head of the Department of Paediatric Gastroenterology, said Prof Rolfs had been working on diagnosing genetic diseases in Pakistan for more than 10 years.

“With his company Arcensus and the advanced genetic testing technique Whole Genome Sequencing (WGS) more than 2,000 Pakistani children have been diagnosed with a genetic disorder over the last year alone – completely free of cost to help them and their families live a better life,” she said.

Earlier, Punjab Health Minister Prof Dr Yasmin Rashid had given assurance about her cooperation with German neurologists.

Published in Dawn, March 30th, 2022