Swarkar Sharma
In an international study, it has been observed that on an average a rare disorder patient needs to consult at least 5 doctors, receives 3 misdiagnoses and waits 4 years before receiving a right diagnosis. This is the case in developed countries like UK. Unfortunately, situation is very bad in India where rare diseases are yet to gain importance due to priority of the health services to cater huge burden of common and communicable diseases. With this background as well as lack of good clinical and diagnostic resources, many of these disorders yet have not been diagnosed or misdiagnosed. The health hazard scenario in Jammu and Kashmir State is quite unique. J&K is mainly a hilly terrain, so majority of the population groups exist in small geographic pockets through out the state. With the climatic advantage many of the severe infections and parasites are yet to reach or affect populations in the region that is bad as other regions of India. So, the health hazards and diseases in the region that hugely affect the populations in the state are not the common ones but huge number of different rare disorders, may be restricted to particular families or populations, yet to be understood and gain attention. In many of such disorders, that are not lethal in early age, individuals remain normal at birth and have disease symptoms later in age that keep on intensifying with advancement of age, sometimes resulting in loss of life.
To highlight, geographic isolation and most of the population groups practicing and performing marriages preferentially within particular subgroups, result in high inbreeding in the state. Adding to it, majority of population of Jammu and Kashmir practice consanguinity (i.e. marriage within the family). It is a known fact that high consanguinity cause high incidence of rare genetic disorders. In light of such population structure in J&K, a high incidence of rare genetic disorders is expected in the state, to the extent, these rare disorders start to appear like an epidemic in isolated areas. Carrying this information to general public is an important component in the maintenance and control of such disorders. It is need of the day that not only population residing in urban areas but remote areas too are educated about genetic disorders as well as practice of high consanguinity especially, in situations when incidence of disorders is reported in families.
Worldwide, Genetics has started to attain key position in healthcare services and rare disorders screening and Orphan drug development is attaining importance as altogether these pose huge health burdens. However, such practices are still lacking in India, especially Jammu and Kashmir. It is high time, we pay attention to such diseases, as can be seen, these started to appear like huge health burden in populations of the state.
(The author is Coordinator, Human Genetics Research Group, SMV DU, Katra)
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