Cystic Fibrosis in the African Diaspora

What is it about?

It has been assumed that cystic fibrosis (CF) only affects White patients. There is therefore not enough data on CF in patients of other races. In this invited review, we gathered data about CF in patients of African descent living in the Americas. We found that in a little over half of the cases, the genetic test used could not identify the mutations causing CF. This can delay diagnosis which is linked to premature death.

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Why is it important?

This paper adds to the growing body of evidence that CF can affect patients of all ethnicities. Given the fact that African genomes are the most diverse in the world, African patients frequently have variations in their DNA that are not seen in any other population group. When it comes to CF, this means that African patients tend to have some of the lowest mutation detection rates when using the current genetic tests for CF. It is imperative that more work be done on patients of African descent to identify the full spectrum of mutations that cause CF in this population group. Having a genetic test which is appropriate for this population should speed up diagnosis and assist with starting these patients on treatment as soon as possible. This will help them to live longer and healthier lives.

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