Marriage brings along with it a new beginning, a dream and promise of a new family. While most couples prepare extensively for their wedding, very few actually take a moment to think about the genes that they will potentially be passing down to their future children. In India, many children who visit the paediatric neurology department present themselves with neurological conditions that are somewhere rooted in genetic disorders. What needs to be highlighted here is how most of these disorders are avoidable with timely and adequate awareness, genetic screening and genetic counselling.
The Hidden Risk of Genetic Disorders in India
India has one of the highest global burdens of recessive genetic conditions. Most of these disorders often remain silent in healthy individuals, however, this becomes evident when two carriers, unknowingly pass on the same recessive genes to their children. The result of this can be serious neurological, metabolic and degenerative complications that can severely alter the course of the child's life.
A large contributing factor is the high prevalence of consanguineous marriages in some regions and communities in India. When individuals marry a close relative, such as a first cousin, second cousin, or even uncle-niece pairings, they share a significant portion of the same genetic pool. This increases the likelihood of a child inheriting the same faulty gene from both parents, leading to serious neuro-genetic disorders.
Over generations, this practice magnifies the risk of genetic disorders within families because recessive genes continue to circulate in the same genetic pool.
When is Genetic Screening Essential?
- When marriage is within the same community or within the same or extended family, the chances of sharing the same recessive genes are higher.
- If you have any sibling in your family with a genetic disorder, since this increases the likelihood of carrying the same faulty gene.
- If you have anyone in your immediate or extended family with a proven genetic disorder, because this may indicate a hereditary risk that can be passed on to future children.
- Some of the community based genetic disorders seen in children born from such marriages include MLC (Megalencephalic Leukoencephalopathy), a severe neuro-genetic condition.
Genetic screening has become more accessible in India
Photo Credit: Freepik
Why Prevention Matters More than Treatment
Although science has advanced significantly today, at large, there is no proven cure and treatment related to a majority of the genetic disorders, which makes prevention, awareness and early genetic screening all the more crucial.
Changing Community Mindsets for a Healthier Future
A majority of the Indian communities still uphold and follow intra-family weddings owing to the customs, traditions and culture that have been passed down from generations. However, awareness regarding the long-term effects of intra-family marriages are slowly increasing, and scientific understanding of genetic screening is growing.
This is where education comes into the picture. Being aware of the science behind the underlying recessive genetic inheritance and the potential threat that this may carry, will eventually motivate people to make healthier decisions for the future generations.
Genome Patrika Should Supercede Janam Patrika
Genetic screening is not about instilling fear, it is about awareness, prevention, and empowerment. Modern genetic testing enables couples to understand potential genetic risks. This doesn't imply that relationships need to suffer; rather, it allows couples to make a more informed choice about reproduction and prevent the birth of a child with neuro genetic disorders.
(By Dr Anaita Hegde, Senior Consultant- Paediatric Neurology & Head- Neurosciences Department, Narayana Health SRCC Children's Hospital, Mumbai)
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