A New Screening Tool for CF in Non-White People

February is Black History Month. As health advocates, it’s important that we engage in dialogue on how health disparities exist for minorities across the globe. While cystic fibrosis (CF) is found across all ethnicities, people of color are disproportionately affected when it comes to screening and diagnosis. However, the announcement of a launch of a new screening tool may help change that.

Current genetic screening panels

When babies are screened for CF, they are screened for Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. However, the variants detected can vary across ethnicities.¹ To account for this, in the US, each state has a different panel depending on the ethnic population that resides within the state. The most common panel used in the US tests against 23 of the most common mutations and typically correctly identifies 90% of CF in the overall population.¹

However, several studies have pointed out flaws with this panel. The panel may not do as good of a job detecting mutations that cause CF in ethnic populations. For example, the panel only detects 69% of mutations in Hispanic people.¹

Prevalence and presentation of CF in African Americans

CF is rare in the African American population, with a prevalence rate of 1 in 17,000 people.² Many of the CFTR mutations are unique to the African American population, which explains why a panel analyzing the most common 23 mutations does not always diagnose correctly. In addition, the presentation of CF in African Americans is different than in white patients:³

• Black CF patients are more likely to present with only respiratory symptoms compared to white people
• White patients had higher hospitalizations due to lung exacerbations than black people
• Black people have better forced vital capacity (FVC) scores

The Wright Cystic Fibrosis Screening Tool

The Wright Cystic Fibrosis Screening Tool was designed with the aim of screening for and identifying CF in ethnically diverse populations.⁴ According to the article published in Cystic Fibrosis News Today, ethnic minorities are susceptible to either delayed or wrong diagnosis before they are eventually diagnosed accurately.

One of the co-founders and physician, Taylor-Cousar, stated that “the recognition of CF in Black individuals and people of other racial and ethnic backgrounds has been markedly inadequate”.⁴ The idea came into fruition when she met a black CF advocate who had been misdiagnosed for decades before he finally received an accurate diagnosis.¹ The patient had been told by a doctor that there was no way his symptoms were related to CF, because he was black, and of course CF occurs predominantly in white populations.

The caveat

Because this tool is a self-screening tool, it was designed to be used by patients and healthcare providers. However, it does not confirm a diagnosis of CF - further testing must be done.

Availability

The tool can be downloaded for free by patients or healthcare professionals in either English or Spanish. The tool can be downloaded here.

Tools like these mark great progress to reduce the gap in health disparities in CF management and diagnosis.