Around 30 million people out of Pakistan’s 220 million population suffer from genetic diseases and one of the many reasons for high prevalence of hereditary disorders is consanguinity due to...
Around 30 million people out of Pakistan’s 220 million population suffer from genetic diseases and one of the many reasons for high prevalence of hereditary disorders is consanguinity due to cultural preference of cousin marriages and spouse selection from near or distant blood relatives, health experts have said.
“Consanguinity in Pakistan is perhaps the highest in the world, but the incidence of genetic diseases at birth can be reduced through introduction of premarital genetic testing and it’s counseling as a part of healthcare system in Pakistan,” said Dr Shahzad Ali Khan, a renowned public health expert and vice chancellor of the Health Services Academy (HSA) Islamabad. while talking to The News on Wednesday.
In view of hereditary disease burden in Pakistan, the HAS, in collaboration with an international tech firm, Dynamic Medical Company (DMC), and the Ministry of National Health Services, Regulations and Coordination and in partnership with China’s leading medical equipment manufacturers, had planned to set up a Genetic Reference Laboratory and Research Centre for Genetic Disorders here in Islamabad at our premises, he said.
The HSA recently held a medical conference and exhibition on “Next-generation Healthcare” where medical technology experts and firms from Singapore, Germany, South Korea, Norway, Turkey, Finland and China as well as from Pakistan presented their papers while diagnostic equipment using Artificial Intelligence was also put on display, which can calculate the risk of several diseases, including heart attack, stroke and cancer.
Dr Shahzad Ali Khan maintained that disorders like thalassaemia, anaemia, colour blindness, haemophilia, and deafness are some examples of monogenic hereditary diseases also known as genetic disorders.
“Pakistan is among countries which are on high alert for a rapid increase in such genetic disorders. Pakistan is the only country in the 22 countries of the EMRO region where thousands of new thalassaemia cases are detected as there is no system for premarital genetic testing,” he said, adding that incidence of genetic diseases at birthcould be reduced through introduction of premarital genetic testing.
He maintained that research and scientific evidence suggests that genetic testing and counselling, if made mandatory in Pakistan, can reduce this rapidly increasing burden of hereditary diseases. Some countries with high rates of consanguinity offer testing to detect carriers of genetic disorders, as well as genetic counselling programmes.
“In Tunisia, for instance, a premarital consultation and testing for blood relatives with a history of genetic complications is mandatory. This is also mandated in Saudi Arabia and parts of Iran,” he said, adding that these countries had successfully managed to eliminate several hereditary disorders, including thalassaemia and hemophilia.
“Unfortunately, genetic testing and pre-natal screenings for hereditary disorders are not widely available in Pakistan,” he said but added that several international tech firms were willing to bring latest technologies and equipment based on Artificial Intelligence to prevent and eliminate genetic diseases from our soil.
He maintained that establishment of a Genetic Reference Laboratory and Research Centre in Islamabad and its nationwide replication would not only augment the transnational medical trade through the Pak-China Medical Corridor but would also initiate a ground for authorities to make relevant legislation such as mandatory pre-marriage genetic testing.
“It is expected that establishing this reference laboratory for genetic disorders in Islamabad for wider access to public will address the high prevalence of hereditary disorders. Premarital screening will help people examine chances of genetic disorders. Its early detection can also aid treatment of a child born with a hereditary disorder.”
According to the expert, Chairman Special Technology Zone Authority (STZA) Amir Hashmi, who attended the medical technology conference, advised the HSA VC to get the HSA registered as “First MedTech Cluster” in Pakistan through processing of its licensing by STZA.
“The STZA chairman also visited our premises, and after getting satisfied with availability of ample space at the varsity, he asked to apply for a licence for becoming First MedTech Cluster in the country. If realised, this project would attract national and international companies to start manufacturing latest medical devices and equipment, for which we spend millions of dollars of our foreign exchange.”