Lahore: Pakistan tops the list of marriages within blood relations and the number of people suffering from genetic diseases in the country is estimated between 14-16 million while 1.6 million mutations have been found in Pakistan.
Consanguine marriages in Pakistan are 73 percent and the country has the largest community of deaf children. Prof Dr Arndt Rolfs, a neurologist and psychiatrist from Germany, shared his research in consanguinity in Pakistan at a presentation he gave on the occasion of 70 years celebrations of diplomatic relations between Pakistan and Germany. He said more than 55,000 patients need immediate treatment.
Dr Arndt Rolfs, a scientist and multi-entrepreneur in biotech, has diagnosed more than 15,000 patients with genetic diseases in Lahore alone and said increasing percentage of diseases could be treated.
“This is post-genomic era. Technology has massively improved. Five years back the diagnosis cost $15,000, now it costs $5,000. In time it will cost 100-120 USD,” he said and added there are diseases that can be treated in less than $5.
“Patients have to pay for the tests in Pakistan and they are burdened by a delay in the diagnosis for about six to eight years,” he said and stressed that early diagnosis is of great importance. Metabolic diseases are reflecting the most in Pakistan. They are more frequent than one in 2000.
He has proposed establishing a rare disease centre in Lahore for the treatment of genetic diseases. He wants to bring the structure to the patients and it should not be the other way round. At present, people travel thousands of miles from Pakistan to see him. The proposed rare disease centre will have genetic lab for diagnosis and genetic counselling unit by human geneticists.
He said, “80-90 percent of the diagnostics prescribed by doctors in Pakistan are unnecessary, which is only burning money. Seventy percent of birth defects can be prevented due to genetic services. There is no genetic testing infrastructure (no diagnostic labs and genetic expertise) in Pakistan.”
There are over 4 million births in Pakistan annually. “Most births do not receive newborn screening which costs less than 10 USD. “A newborn’s blood is taken from heel and different tests can be conducted but there is no systematic newborn screening here. Systematic newborn screening is a standard practice in the world. We need to start that,” he said.
Dr Arndt Rolfs is the founder of Arcensus, a digital health and genetics start-up empowering people to take their personal health into their own hands. Arcensus provides a trusted, secure and comprehensive digital service based on Whole Genome Sequencing (WGS). The company was in more than 100 countries in 2005. He said he remained its CEO for 14 years and then in 2018 he handed it over to younger people.
He underlined education and awareness as key to fighting this problem. Egypt and Saudi Arabia, he said, are effectively fighting against the problem. “We have to educate doctors and patients. We are focusing on changing mentality of doctors,” he said.
His majority of research is in Lahore but he has also done research in Peshawar, Multan and Islamabad, and now will go to Karachi. He said more boys were brought to him for checkup, the number of girls was less.
He said, “National registries are very important to understand genetic diseases but no national registry is available in Pakistan. Genome sequencing is doable,” he said. He gave a list of top 10 genetic disorders that are treatable.
The Genomic England Project was started six years ago. Pharmaceutical partners have the most interest in the knowledge. Genomic sequencing is free for everyone in the UK and the money has come from the pharma partners.
Consanguine marriages have declined in Israel because the rabbis say, “You don’t have my blessings’. If people have same gene, risk increases of being one in four. Everything starts from informed knowledge, he said.
There is a WHO study, he said, that puts the country’s loss due to genetic diseases at 18-20 USD every year. This is more than what is being spent on cancer and COVID together, he said. It has to be the top issue to be addressed in Pakistan.
