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The utility of broader CFTR genotyping in cystic fibrosis populations

Cystic fibrosis

Cystic fibrosis | December 19, 2023

On October 26th, we hosted an insightful webinar by Prof. Milan Macek (M.D., DSc.), where he explored the impact of CFTR gene mutation analysis on cystic fibrosis (CF) diagnosis and treatment. In case you were unable to join the webinar, we have prepared a summary of the key messages here.  

You can access the full webinar recording on-demand here

CFTR genotyping has transformed CF diagnosis and treatment  

In 1989, mutations in both alleles of the CFTR gene was found as the cause of cystic fibrosis. Since then, CFTR databasing has become an important tool in improving the understanding of cystic fibrosis across different demographics. Characterising the entire CFTR gene is important for non-European populations, as most commercially available genotyping panels have been developed for European populations.  

There is inequity in CFTR genotyping across the world  

CFTR genotyping has been deployed successfully in European countries and North America, but there is a lack of data from other regions including African countries, where CF is underdiagnosed and often misdiagnosed as TB or HIV. Sweat testing of cystic fibrosis in a warm environment like Africa is challenging and costly, CFTR sequencing offers a simple and affordable solution. “This approach leap frogs the gradual development of CF care, and in fact opens the door for CF care… Genotyping in Africa makes a big impact,” comments Prof. Macek.  

Panel-based diagnostics lose their utility with changing demographics 

Over the past few decades, the demographics of Europe have shifted rapidly, with an increasing proportion of foreign-born individuals in every country. The genetic variance therefore seen in populations has broadened. Due to this, traditional panel-based diagnostics that were developed with mutations common to European populations, have reduced utility. The impact of such changing demographics has also been reflected in the guidelines from bodies such as the American College of Medical Genetics and Genomics (AMCG), which increased the number of CF mutations they recommend testing for from 23 to 100 to better cover the population diversity in the US.  

Prof. Macek has been involved in a project title “Filling in the Gaps” since 2017, which aims to develop CFTR testing outside of Europe, where there has been traditionally limited data. Collecting data on the genetic composition of different regions is key to developing cystic fibrosis care in these countries. “It empowers local clinicians to contact policy makers and lobby for the development of cystic fibrosis care.” 

Why choose Devyser CFTR NGS? 

Prof. Macek explained, “We have tried many assays of various types, but targeted, amplicon-based sequencing with high quality and high coverage is the best method for a clearly defined disease like cystic fibrosis.” Devyser CFTR NGS includes several benefits over other CFTR assays. Firstly, Devyser CFTR NGS accounts for large exon-spanning CNVs in the gene and is detecting the 8 most common deletions by spiked-in direct detection. Secondly, due to its robustness, it is possible to use dry blood spot samples. This is vital for neonatal screening and simplifies the shipment of remote samples. Thirdly, the assay is easy to use with standard Illumina platforms. Lastly, Devyser CFTR NGS is CE-IVD certified and CE-IVDR certification-pending.  

Robust and reliable NGS assays can facilitate improvements in CF diagnosis and care  

Prof. Macek concluded the webinar stating that CFTR sequencing by NGS methods will not only help manage CF diagnosis in a world of changing demographics, but it also aids in the treatment of CF by providing more detailed information about genetic modifiers that could influence CFTR modulation therapies negatively.  

If you would like to watch the webinar in full, you can access the recording on- demand here
Click here to read more about Devyser CFTR NGS.

Disclaimer: The regulatory status and availability of products depends on what country you are in, please contact Devyser or your local distributor for more information. 

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