AI Article Synopsis
- Advances in cystic fibrosis (CF) diagnosis focus on improvements in newborn bloodspot screening, gene analysis, and understanding CFTR-related disorders.
- These developments highlight the importance of timely and accurate diagnosis for access to variant-specific therapy, which can significantly benefit those with eligible CFTR gene variants.
- The guidance in this paper updates previous standards and emphasizes the growing necessity for proper diagnosis as future trials for variant-specific therapies are anticipated.
Article Abstract
There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.
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| http://dx.doi.org/10.1016/j.jcf.2023.09.008 | DOI Listing |
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