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Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
Published on: June 10, 2022
Laboratory tests for the diagnosis of cystic fibrosis
1Division of Laboratory Medicine, Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Insights
Cystic fibrosis (CF) diagnosis is improving with new genetic testing. Early detection of CF transmembrane conductance regulator (CFTR) gene mutations aids in identifying atypical CF disorders and enhances patient management.
Area of Science:
- Medical Genetics
- Pediatrics
- Pulmonology
Background:
- Cystic fibrosis (CF) is a prevalent, life-limiting inherited disorder in the U.S.
- Accurate and early diagnosis is crucial for effective CF management.
- Traditional diagnostic methods relied heavily on sweat chloride tests.
Purpose of the Study:
- To highlight advancements in cystic fibrosis diagnosis.
- To discuss the role of CF transmembrane conductance regulator (CFTR) genetic screening.
- To emphasize the benefits of early CF diagnosis through improved screening protocols.
Main Methods:
- Review of diagnostic criteria for cystic fibrosis.
- Evaluation of CF transmembrane conductance regulator (CFTR) dysfunction testing.
- Analysis of the impact of CFTR genotyping in newborn screening.
Main Results:
- CFTR genotyping significantly enhances diagnostic accuracy compared to sweat chloride tests.
- Increased CFTR screening has identified atypical cystic fibrosis cases.
- Two-tiered newborn screening protocols incorporating CFTR genotyping are increasing early diagnoses.
Conclusions:
- Modern CFTR genetic screening offers improved accuracy for cystic fibrosis diagnosis.
- Early detection through advanced newborn screening protocols facilitates timely intervention.
- Understanding CFTR mutations is key to managing diverse CF presentations.
Abstract:
Cystic fibrosis (CF) remains the most common life-limiting inherited disease in America. Making an accurate, early diagnosis is essential to the management of the disease. The diagnostic criteria for CF require the presence of 1 or more typical clinical features, a family history of CF, or a positive newborn screening test, plus laboratory evidence of the CF transmembrane conductance regulator (CFTR) dysfunction. In the past, the laboratory test of abnormal CFTR function was based largely on an elevated sweat chloride test result. The recent development of a genotypic CFTR mutation screen has greatly improved diagnostic accuracy. Increased screening of the CFTR locus has led to the recognition of a number of atypical CF disorders. Recently, a 2-tiered newborn screening protocol including CFTR genotyping has become popular, increasing the likelihood of early diagnosis.
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