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Interpretation of genetic data is challenged by missing special ethnicities

Nowadays, genetic diagnostics and clinical trials decode in stunning pace thousands of details that lie in our genetic information. The goal remains always the same: genetic testing should help people worldwide who suffer from unsolved medical problems. The challenge relies on the genetic diversity of different populations, different ethnicities: most of the existing databases are biased towards European ancestries in their patient cohorts – only ~4% are being estimated to be represented from other cohorts. This influences clearly the quality of diagnostics and the classification of detected variants (Kessler et al. Nature Communications (Oct 2016). Population-specific genetic data collected globally and combined with the corresponding clinical information is the future path. CentoMD®, the world´s largest database for rare genetic disorders, is essential to follow this path.

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