2016
DOI: 10.1038/gim.2015.52
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Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk

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Cited by 22 publications
(25 citation statements)
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“…Although African genomes are known to be highly diverse 36 they also tend to be understudied which is the case with CF, especially since it was assumed that this disease could only affect those of European or Caucasian descent 37 .…”
Section: Issues Surrounding Diagnosing Cf In the Diasporamentioning
confidence: 99%
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“…Although African genomes are known to be highly diverse 36 they also tend to be understudied which is the case with CF, especially since it was assumed that this disease could only affect those of European or Caucasian descent 37 .…”
Section: Issues Surrounding Diagnosing Cf In the Diasporamentioning
confidence: 99%
“…This may increase their chances of being misdiagnosed especially in areas where there are more rampant phenocopic illnesses such as malnutrition, viral or parasitic infection or tuberculosis 11,38 . Second, there is not enough information available about the mutations present in these sub-populations for the design of suitable genetic tests 12,37 . This also increases the probability that these patients may be misdiagnosed particularly if they don't present with the classic triad of CF symptoms or if they have milder forms of the disease.…”
Section: The Way Forwardmentioning
confidence: 99%
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“…Should we continue proposing the 23 pan-ethnic mutation panel suggested by ACOG/ACMG/NIH [47], should we test for all pathogenic mutations present in the screened population that appear with a frequency even lower to the "gold standard" of 0.1% or should we screen the whole gene and report only pathogenic / likely pathogenic variants even if they are novel following the "Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology" [60]. This question has no easy answer and has raised a lot of debate [61,62] and we believe that the best approach should be custom-made for each distinct population.…”
Section: Carrier Screening: What Lies Ahead?mentioning
confidence: 99%
“…This represents most alleles seen in patients with CF, but the large number of untested remaining variants may contain variants more common in non-Europeans. 8 Second, certain annotated mutations may cause CF in some individuals or may result in no phenotype. In the study by Kharazzi et al, 3 both occurrences resulted in newborns with a CFTRrelated metabolic syndrome (CRMS) diagnosis.…”
Section: Recent Advances In Cftr Geneticsmentioning
confidence: 99%