Parkinson's disease (PD) is a complex neurological condition characterized by progressive motor impairment. While its clinical diagnosis relies on detailed history and examination, the underlying pathogenesis involves a delicate interplay of genetic predisposition and environmental factors.
According to Dr Richa Singh, Consultant Neurologist at Ruby Hall Clinic, Puna, genetic testing has emerged as a tool to identify mutations associated with PD. However, it's essential to understand that having a genetic predisposition does not guarantee the development of PD. Conversely, the absence of genetic markers does not confer immunity to the disease. Genetic testing is not part of routine investigations due to its limited ability to establish or rule out PD definitively.
In a small percentage of cases, PD can be linked to single gene mutations, particularly in individuals with younger-onset or familial forms of the disease. Yet, even among those with identified mutations, the likelihood of developing PD remains uncertain. Moreover, the interpretation of genetic tests is challenging due to numerous variables of unknown significance, necessitating expert analysis and counselling.
For asymptomatic individuals with a family history of PD, genetic testing may reveal a slightly increased risk. However, predicting who will develop the disease remains elusive, as there are no clinical trials or preventive treatments for this population. Therefore, knowing one's genetic makeup does not dictate future health outcomes.
Individuals with concerns about PD must engage with healthcare professionals. If genetic testing is recommended, thorough genetic counselling before and after testing is essential. This ensures a comprehensive understanding of the results and their implications, while also acknowledging the inherent complexities of genetic risk assessment.
However, genetic testing can uncover potential predispositions to PD, but its ability to predict individual disease risk is limited.
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