Bumrungrad Health Briefs #35: Understanding Endometriosis: Symptoms, Causes, and Treatment Options


Genetic Insights for Better Health, the Power of Whole Exome Sequencing

Whole Exome Sequencing (WES) represents a significant advancement in personalized medicine, providing a focused analysis of an individual's protein-coding genes. This powerful tool can reveal genetic predispositions to various conditions, including heart disease and cancer, enabling a more tailored approach to routine health screenings such as colonoscopies, gastroscopies, and heart ultrasounds.

One of the primary benefits of WES is its ability to identify genetic variants associated with an increased risk of diseases long before symptoms manifest. For example, WES can detect mutations in genes like BRCA1 and BRCA2, which significantly elevates the risk of breast and ovarian cancers. Similarly, it can uncover genetic markers linked to colorectal cancer and hereditary heart conditions such as hypertrophic cardiomyopathy. By pinpointing these risks early, healthcare providers can develop personalized screening schedules that ensure timely detection and intervention.

Tailoring health check-ups based on WES results can lead to more effective and efficient preventive care. Individuals with a genetic predisposition to colorectal cancer, identified through WES, might benefit from earlier and more frequent colonoscopies, enhancing the likelihood of detecting precancerous polyps before they develop into cancer. Likewise, those with a genetic risk for heart disease may require regular heart ultrasounds or advanced imaging techniques to closely monitor their cardiovascular health.

At Bumrungrad International Hospital, the Preventive Genomics and Integrative Medicine program leverages WES to provide a comprehensive and personalized approach to health management. By integrating genetic insights with routine screenings and preventive strategies, Bumrungrad offers a proactive healthcare model that focuses on early detection and personalized care.

Moreover, WES can inform lifestyle recommendations and preventive strategies. Understanding one's genetic risks allows healthcare professionals to provide targeted advice on diet, exercise, and other lifestyle factors, significantly reducing the likelihood of disease development. This personalized approach not only enhances the effectiveness of preventive measures but also empowers individuals to take proactive steps toward maintaining their health.

Incorporating whole exome sequencing into routine healthcare can lead to earlier detection, more personalized treatment plans, and ultimately, better health outcomes. As genetic research continues to advance, integrating WES into health check-ups promises to revolutionize preventive care, offering hope for a healthier future through personalized medicine. Bumrungrad’s commitment to utilizing these advanced techniques exemplifies its dedication to providing top-tier, personalized healthcare.

Provided by Col.Asst.Prof.Dr. Kitti Buranawuti

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