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Can We Democratise Cancer Prevention with Germline Testing?

As the cost of sequencing plummets and our understanding of cancer genetics leaps forward, a critical debate surrounds who should undergo germline testing and how widely it should be offered. Some argue for focusing on high-risk groups or cases where results can directly inform treatment, while others see potential for universal testing due to cost drops and increasing knowledge. Genetic counseling is crucial for navigating these issues and maximizing the benefits of testing, particularly as risk calculations become more personalised. Ultimately, the future of germline testing in cancer holds immense promise, and finding the right balance between broad access and responsible application will require a coordinated effort from medical professionals, researchers, and society as a whole. Imagine a future where every individual, armed with their unique genetic blueprint, can proactively navigate their cancer risk through tailored screening, lifestyle choices, and potentially life-saving preventive measures. 

Germline testing and whole-genome sequencing have thus emerged as a transformative tool for, facilitating a shift from a “reactive” strategy, where genetic tests are conducted as needed, to a pre-emptive approach by testing and reporting all actionable variants in a single comprehensive test, offering a lifetime of valuable test results. In the face of India’s formidable cancer challenge, the adoption of pre-emptive germline testing, early diagnosis strategies, cascade testing, and the integration of pharmacogenomics collectively contribute to a more nuanced and personalised approach to cancer care, offering hope for improved outcomes and reduced cancer burdens in the future.

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