Solving Medical Mysteries: The Search for a Diagnosis | Geneomm Medical Center

The “Diagnostic Odyssey”: Why the Search Takes So Long
Many patients with rare diseases visit an average of 7-10 doctors over several years before getting a correct diagnosis. This “odyssey” is emotionally and financially draining for families.
How Whole Exome Sequencing Finds the Needle in the Haystack
Whole Exome Sequencing (WES) examines the “exons”—the protein-coding regions of your DNA where 85% of disease-causing mutations occur. By scanning all 20,000 genes at once, we can find rare mutations that traditional tests miss.
The Emotional Relief of Finally Having a Name
A diagnosis provides more than just medical data; it provides validation. It allows families to connect with support groups, access specialized insurance coverage, and stop the cycle of unnecessary testing.
Next Steps After a Rare Disease Diagnosis
Once a condition is named, our multidisciplinary team creates a management plan. While not all rare diseases have a “cure,” most have treatments that can significantly improve symptoms and longevity.

The “Diagnostic Odyssey”: Why the Search Takes So Long
Many patients with rare diseases visit an average of 7-10 doctors over several years before getting a correct diagnosis. This “odyssey” is emotionally and financially draining for families.
How Whole Exome Sequencing Finds the Needle in the Haystack
Whole Exome Sequencing (WES) examines the “exons”—the protein-coding regions of your DNA where 85% of disease-causing mutations occur. By scanning all 20,000 genes at once, we can find rare mutations that traditional tests miss.
The Emotional Relief of Finally Having a Name
A diagnosis provides more than just medical data; it provides validation. It allows families to connect with support groups, access specialized insurance coverage, and stop the cycle of unnecessary testing.
Next Steps After a Rare Disease Diagnosis
Once a condition is named, our multidisciplinary team creates a management plan. While not all rare diseases have a “cure,” most have treatments that can significantly improve symptoms and longevity.