What is it about?
In this paper, we brought together all the research we could find that had been done on African patients to identify mutations that could cause cystic fibrosis (CF). We found that only 12 African countries (of 54) had any available data on CF-causing mutations. We also found that 79 mutations had been identified, 21 of which had only ever been described in Africa.
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Photo by National Cancer Institute on Unsplash
Why is it important?
Initially, it was assumed that CF could only affect White patients. This has since been disproved; the first Black CF patient was identified in South Africa (that data was published in 1959). Despite this, this misconception continues to linger, which leads to misdiagnosis of CF patients who are not White. (There are other issues which make it difficult to diagnose African CF patients as well which we describe in the paper). This is a problem because patients diagnosed late (after they are 6 weeks old) spend more time in hospital, are more likely to need a lung transplant and have worse cognitive function than those diagnosed soon after birth. Delayed diagnosis is part of the reason African CF patients can only expect to live to be about 20 whereas CF patients in Europe & North America are living to be about 40 - 50 years old. We propose a public health strategy that should drive down treatment costs for this disease while at the same time increasing life expectancy for Africans with this illness.
Perspectives
An essential part of advocating for African CF patients is raising awareness of their existence. The tools needed to help CF patients live their best lives are well-known. However, it's up to us to dispel the misconception that only white patients can have this disease. Patients of other ethnicities will continue to be misdiagnosed and suffer needlessly unless we take action.
Dr Cheryl Stewart
University of the West Indies at Mona
Read the Original
This page is a summary of: Cystic fibrosis on the African continent, Genetics in Medicine, December 2015, Nature,
DOI: 10.1038/gim.2015.157.
You can read the full text:
Resources
Taking race out of human genetics
This is an essay in Science written by Michael Yudell, Dorothy Roberts, Rob DeSalle & Sarah Tishkoff. It examines the potential pitfalls of using race as a proxy for genetics (such as saying a disease affects only Black people). The authors call for a new paradigm to be created in biological research that moves past the concept of race as we have been using it thus far.
Should biologists stop grouping us by race?
This article examines the main idea in the Yudell paper & delves a little into the fact that members of various races generally carry genomic signatures from other people groups as well.
Cystic Fibrosis in Africa: not a Caucasian-only disease
In this Genetics in Medicine podcast, we discuss some of the issues leading to underdiagnosis of CF in African patients. We also talk about the importance of investigating African genomes & the health economics of doing these investigations specifically in CF.
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