On March 26th 2022, German healthcare and genetic diagnostics company Arcensus, in collaboration with Prof. Dr. Huma Cheema from the Children’s Hospital & Institute of Child Health in Lahore, organized the inaugural symposium “Genetics Matters to Everyone” at the Anne Marie Schimmel Institute. The event is aimed to raise awareness and find solutions for the prevalent issue of genetic diseases in Pakistan, often exacerbated by a high rate of consanguinity.
World-renowned athletes, including former Pakistani cricket team captain Misbahul Haq, former German hockey player Stefan Blocher, and Pakistan national hockey coach Siegfried Aikman, joined as “Ambassadors for Genetics.” Politicians, including Punjab Health Minister Dr. Yasmin Rashid, also participated.
Pakistan faces a staggering challenge, with approximately 16 million individuals, mainly children, living with rare genetic disorders—the highest frequency globally, driven by the widespread practice of consanguinity. The economic impact, according to WHO, is estimated to be 12-14 percent of Pakistan’s economy.
Early diagnosis of genetic diseases is crucial for the well-being of future generations in Pakistan. During the symposium, Punjab Health Minister Dr. Yasmin Rashid emphasized the importance of openly discussing the relationship between cousin marriages and genetic diseases, highlighting the establishment of a Genetic Task Force in Punjab.
Arcensus underscored the need for education on the impact of cousin marriages on genetic diseases and proposed introducing clinical screening by trained professionals.
Prof. Dr. Huma Cheema, Head of the Department of Pediatric Gastroenterology of Children’s Hospital Lahore, presented outcomes of a study in collaboration with Arcensus. The study revealed alarming mortality rates linked to cousin marriages, prompting the call for mandatory pre-marriage screening tests.
The involvement of “Ambassadors for Genetics” added a unique dimension to the event. Misbahul Haq, representing the Pakistan Children Heart Foundation, pledged to raise awareness for congenital heart diseases, affecting one in 100 children in Pakistan annually.
Siegfried Aikman, the Pakistani national hockey coach, shared a personal connection, with one of his players having lost two sons to genetic diseases. He urged breaking the chain and continuing to raise awareness.
Stefan Blocher, German hockey legend, pledged to play a role in emphasizing the importance of genetic diagnosis.
To further address the “silent pandemic,” Prof. Dr. Huma Cheema announced ongoing collaborations with Arcensus for free genetic testing. The involvement of world-class athletes as “Ambassadors for Genetics” added a compelling human touch to the mission, contributing to the broader goal of raising awareness and fostering knowledge dissemination on genetic diseases in Pakistan.