Centogene: Genetic Testing for Rare Diseases

You probably don't know much about rare diseases unless you're one of the unfortunate few who are afflicted by one. Not everyone agrees upon how we ought to define a rare disease, but in the United States, that's considered one that affects less than 200,000 people or about 1 in 1,636 people. While some diseases might be considered rare in the United States, they may not be so rare in other countries. We may not be able to reach a consensus on the definition, but we can all concede it's a global problem with more than 7,000 currently identified rare diseases that affect over 350 million people globally. There are more people living with a rare disease than U.S. citizens alive today.

On average, it takes five to seven years for a patient with a rare disease to be diagnosed. Of the 7,000 identified rare diseases, it is estimated that 80%, or 5,600, have a genetic origin yet only approximately 230 rare hereditary diseases, or 4%, have an FDA approved treatment. This isn't those big bad c...

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