Sunday, March 29, 2026

Author: Dr Rahul Bhoyar

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“Seven Years of Searching – One Genome for the Answer” How Whole Genome Sequencing Is Ending Years of Diagnostic Uncertainty

  • March 8, 2026

Imagine this. A child misses developmental milestones. First comes reassurance- “Every child grows differently.” Then come the referrals. Pediatrician. Neurologist. Metabolic specialist. Geneticist. Blood tests. MRIs. Muscle biopsies. Hospital admissions. Months turn into years. And still, the answer remains: “We don’t know.” This is what medicine calls the Diagnostic Odyssey;…

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Incidental Findings: When Genomics Tells You More Than You Asked For

  • January 24, 2026

A patient undergoes whole genome sequencing to understand unexplained seizures. The analysis provides the answer. But it also reveals something else – a pathogenic variant associated with sudden cardiac death. The seizures are treatable. The cardiac risk, once invisible, is now preventable. No one asked that second question. But the…