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Cystic Fibrosis testing among Arab-Americans
Sainan Wei1, Gerald L Feldman, Kristin G Monaghan
1Medical Genetics, Henry Ford Hospital, Detroit, MI 48202, USA.
Summary
Cystic fibrosis carrier frequency in Arab-Americans is 1 in 115. Expanding screening panels can improve mutation detection rates for this population.
Area of Science:
- Medical Genetics
- Population Health
Background:
- Limited data exists on cystic fibrosis carrier frequency and mutation detection rates among Arab-Americans.
- This study addresses the need for better understanding of genetic carrier status in this demographic.
Purpose of the Study:
- To determine the carrier frequency of cystic fibrosis among Arab-Americans.
- To evaluate the effectiveness of current screening panels for this population.
Main Methods:
- Retrospective analysis of carrier screening data from 805 Arab-Americans (October 2001 - June 2005).
- Testing included at least the 25 mutations recommended by the American College of Medical Genetics.
- Comparison with existing studies on Arabic cystic fibrosis patients and diagnostic testing for seven individuals.
Main Results:
- An observed carrier frequency of 1 in 115 was identified among Arab-Americans.
- The most prevalent mutations were W1282X (57%), DeltaF508, and R117H.
- Three of seven patients with suspected cystic fibrosis had two identifiable mutations.
Conclusions:
- The current standard carrier screening panel misses a significant portion of mutations in Arab-Americans.
- Expanding the panel to include specific mutations (e.g., 1548delG, I1234V) could increase detection rates to 66.3%.
- Enhanced screening is crucial for achieving detection rates comparable to other racial/ethnic groups.
