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 the genetic test used could not identify the mutations causing CF in a little over half of the cases. 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 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. More work must 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. The urgency of this situation cannot be overstated. This will help them to live longer and healthier lives.

Perspectives

When read together with our previous paper on CF in Africa, it becomes apparent that more needs to be done to ensure that CF patients of African descent are not at an immediate disadvantage. This is a collective responsibility that all healthcare practitioners and researchers need to be aware of, as CF doesn't only affect White patients. Much more work also needs to be done on African patients, and those of African descent around the world, necessitating collaboration to develop diagnostics tailored to these patients.

Dr Cheryl Stewart
University of the West Indies at Mona

Read the Original

This page is a summary of: Cystic Fibrosis in the African Diaspora, Annals of the American Thoracic Society, January 2017, American Thoracic Society,
DOI: 10.1513/annalsats.201606-481fr.
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