Rare diseases are referred to a collection of about 5,000-8,000 individual diseases, affecting less than 1 in 2,000 people, with the estimation of disease prevalence that may change over time. About 80% of these rare diseases are genetic in origin, most of them being either life-threatening or chronically debilitating in nature, impacting the morbidity subsequently increasing the disease burden. Despite their heterogeneity, rare diseases share commonalities associated with their rarity. These rare diseases collectively are estimated to affect over 300 million people worldwide, that is 4% of the global population.
Research for rare diseases largely remain neglected, but they continue to have a significant burden on the healthcare systems globally. Moreover, evidence is also emerging that shows the impact of rare disease diagnoses, on a patient’s socio-economic status (SES) which needs further exploration. These factors necessitate robust diagnostic and therapeutic strategies through expert collaborations which are required for making progress at the frontier of rare diseases.
After the successful completion of The Human Genome Project in 2003, many unanswered questions about the genetic etiology of diseases started to get answered and the era of precision medicine was predicted where knowing each individual’s DNA code would help better understand and subsequently treat the diseases they suffered from. Today many FDA approved medications are hitting the market that specifically target certain gene pathways for treating diseases, such as cancers and epilepsies etc.; and “one size fits all” approach in mainstream medical practice is getting replaced gradually for certain classes of disease. Bringing the promise of precision medicine to the healthcare system of Pakistan is still far from reality, despite the huge disease burden of diseases with underlying genetic causes.
In the context of Pakistan, being the 5th most populous country and people largely having cultural preference of marrying within families; the risk of these disorders is further amplified. In rural areas, the rate of consanguineous marriages is reported to be as high as 80%. One of the most commonly seen and documented genetic disorders in Pakistan is beta thalassemia, with annually over 8000 children born with it requiring life-long medical attention and blood transfusions. The prevalence of other rare diseases in Pakistan, such as Spinal Muscular Atrophy (SMA), congenital hearing loss, intellectual disability, ciliopathies, spectrum of neuromuscular disorders, primary immunodeficiency and hundreds of other diseases is not studied. Multi-faceted work on the fronts of education, medical and scientific training, laboratory infrastructure, public awareness is warranted in the field of genetic diseases, as they are not “rare” in our country. Subsequently, this will impact in assessing the population carrier frequency for disorders, formulate country-wide prevention and therapeutic intervention capacity; to not only reduce the economic burden on families but also find sustainable solutions to a very pertinent healthcare problem in Pakistan.