INHERITED diseases, passed from parents to their children through genes, are a significant and growing concern in Pakistan. With a high rate of cousin marriages and limited public awareness of genetic risks, conditions like Thalassemia, cystic fibrosis, and various metabolic disorders are becoming more common. However, the primary healthcare system in Pakistan, which serves as the first point of contact for many people, has the potential to play a key role in preventing these diseases.
Primary healthcare centres are often the most accessible medical facilities, especially in rural and remote areas. While these centres have traditionally focused on issues like infectious diseases, maternal health, and vaccinations, they can also become vital hubs for preventing inherited diseases. Healthcare workers at these centres can be trained to educate communities about the risks of marrying within the family and the importance of genetic counselling. This kind of awareness can help families make informed choices, potentially reducing the number of children born with genetic disorders.
Genetic counselling, in particular, is a powerful tool that could be more widely offered through the primary healthcare system. Right now, most genetic services are available only in big cities, far out of reach for many people. By training healthcare workers at local clinics to provide basic genetic counselling, we can bring this essential service closer to those who need it most. This would allow individuals and couples at risk of inherited diseases to get the advice and information they need without the burden of travelling long distances or paying high fees.
In addition to counselling, early screening and diagnosis of genetic disorders during pregnancy could be integrated into the services offered at primary healthcare centres. With proper training and resources, these centres could offer prenatal screenings, which would allow for early intervention and better management of inherited conditions. Catching these diseases early can make a huge difference in the lives of affected children and their families, both emotionally and financially.
Public health campaigns about inherited diseases can also be effectively run through primary healthcare centres. These centres can serve as the front line for spreading awareness about genetic risks, encouraging genetic testing, and promoting voluntary screening programs. By using the existing infrastructure of these clinics, we can reach people in even the most isolated areas, where awareness of genetic issues is often the lowest.
To truly make a difference, there needs to be a collective effort to strengthen the primary healthcare system. This includes better training for healthcare workers, providing the necessary tools for genetic screening and counselling, and ensuring that these services are integrated into the broader healthcare network. Policymakers should support these efforts by developing and implementing policies that prioritize genetic health at the community level.
—The writer is Associate Professor, Health Services Academy, Islamabad.
