Unlocking Genetic Clues: Genomepatri’s Role in Understanding Parkinson’s Risk

Unlocking Genetic Clues: Genomepatri Role in Understanding Parkinson Risk

In the realm of personalized healthcare, genetic testing has emerged as a revolutionary tool, providing insights into one's genetic predispositions to various health conditions. MapMyGenome's Genomepatri is at the forefront of this innovation in India, offering a comprehensive DNA-based health and wellness solution. This service extends beyond mere genetic testing; it provides over 100 easy-to-read reports that delve into an individual's genetic makeup, susceptibility to health conditions, and responses to medications.

Parkinson’s Disease: Not a rare disease

Consider Parkinson’s disease (PD), a neurodegenerative disorder affecting millions worldwide. In India alone, an estimated 1.2 million individuals over the age of 65 grapple with PD. Interestingly, men are more susceptible, with a 3:1 ratio compared to women.

A Glimpse into History

The roots of Parkinson’s disease trace back to 1817, when British physician James Parkinson penned his groundbreaking essay, “An Essay on the Shaking Palsy.” In this seminal work, he described six cases of what he termed “paralysis agitans”—characterized by resting tremors, abnormal posture, muscle weakness, and relentless progression.

Parkinson’s disease and India

Parkinson’s disease (PD), a complex neurodegenerative condition, affects millions globally. In India, where an aging population grapples with health challenges, understanding the genetic underpinnings of PD becomes crucial.  The average age at PD onset in India is nearly a decade younger than in other countries.

The Genetic Landscape

  • With a prevalence rate of PD varying between 15-43/100,000 population, India is likely to have the highest absolute number of PD patients in the world, of whom nearly 40-45% have age of onset of motor symptoms between 22-49 years (EOPD)
  • Diagnostic genetic testing can play a crucial role in understanding novel variants and common variants present in the population that can predispose to the risk of developing PD
  • Amid this backdrop, Genomepatri, a comprehensive genetic testing service by MapMyGenome, emerges as a beacon of insight.

Beyond Neurodegeneration

  • Genomepatri’s impact extends far beyond PD. It offers a panoramic view of an individual’s health, to help understand the risk of other risk factors that can significantly contribute the risk such as diabetes, stroke, hypertension, nicotine addiction
  • Pharmacogenomics test further helps in understanding drugs that are better suited based on genetic factors. This can optimize treatment response and dosage of drugs.

Challenges in early diagnosis, management and care for PD

  • Lack of Definitive Biomarkers: Currently, there are no specific lab tests available for diagnosing Parkinson’s disease in its early stages. Clinicians rely on a combination of the patient’s history, clinical signs, and symptoms to make a diagnosis.
  • Similarities with Other Disorders: The early symptoms of Parkinson’s can mimic those of other movement-related disorders or even normal aging.
  • Misdiagnosis: Patients may be misdiagnosed with other illnesses during the early stages of Parkinson’s. Conversely, some individuals may be labeled as having Parkinson’s when they actually have a different medical disorder such as normal pressure hydrocephalus.

Clinical Benefits of Early Intervention:

  • Medications: Initiating treatment early can reduce symptoms. Options include levodopa-based regimens, dopamine agonists, and monoamine oxidase type-B inhibitors.
  • Nonpharmacological Therapies: These play a crucial role in managing symptoms. Physiotherapy and additional occupational therapy and lifestyle changes can significantly improve quality of life and slow down the progression of symptoms.

Genetic Research Gap:

  • The Indian population is under-represented in PD research. Initiatives like the Genetic Architecture of PD in India (GAP-India) aim to address this gap4.

Efforts to improve awareness, access to specialists, and supportive resources are
crucial for better Parkinson’s care in India.

As we navigate the intricate strands of our DNA, Genomepatri illuminates the path toward better health—one gene at a time.

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