CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

Sugarman, Elaine A; Rohlfs, Elizabeth M.; Silverman, Lawrence M.; Allitto, Bernice A.

doi:10.1097/01.gim.0000139503.22088.66

Cited by 73 publications

(58 citation statements)

References 28 publications

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“…The similarity in the carrier frequencies between the overall test population and individuals for whom ethnicity data were not collected suggests an absence of bias in terms of ethnic makeup of the latter group, as reported by Rohlfs et al 9 The carrier frequency for Hispanics was greater in the population screened with the 69-mutation panel (1 in 48) than the frequencies obtained with either the 32-mutation panel (1 in 69) or the previously reported 23-mutation panel (1 in 58). 17 18 identified as accounting for 5.6% of CFTR mutations in Hispanic CF carriers and 7.6% of mutations in Hispanic CF patients. Three of these variants are also among the seven alleles recommended by Schrijver et al 13 to increase carrier detection rates in Hispanics.…”

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis carrier screening in a North American population

Zvereff¹,

Faruki²,

Edwards³

et al. 2014

Genetics in Medicine

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Methods:Patients referred for cystic fibrosis screening from January 2005 through December 2010 were tested using either a 32-mutation panel (n = 1,601,308 individuals) or a 69-mutation panel (n = 109,830). Results:The carrier frequencies observed for the 69-mutation panel study population (1/36) and Caucasian (1/27) and African-American individuals (1/79) agree well with published cystic fibrosis carrier frequencies; however, a higher carrier frequency was observed for Hispanic-American individuals (1/48) using the 69-mutation panel as compared with the 32-mutation panel (1/69). The 69-mutation panel detected ~20% more mutations than the 32-mutation panel for both African-American and Hispanic-American individuals. Conclusion:Expanded panels using race-specific variants can improve cystic fibrosis carrier detection rates within specific populations. However, it is important that the pathogenicity and the relative frequency of these variants are confirmed. Genet Med advance online publication 19 December 2013

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Section: Discussionmentioning

confidence: 99%

Cystic fibrosis carrier screening in a North American population

Zvereff¹,

Faruki²,

Edwards³

et al. 2014

Genetics in Medicine

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“…Study questionnaires should be translated into Spanish or other appropriate languages and should be administered by native-speaking interpreters or study staff. Although stratified randomization or other trial designs to assess subgroup drug responses may not be feasible when the majority of patients with CF are non-Latino white, it is important to include populations that reflect the overall composition of patients with CF (30)(31)(32)(33). Journal editors and manuscript reviewers should require the reporting the race and ethnicity of subjects in CF pharmacology trials, even if all subjects are non-Latino white.…”

Section: Discussionmentioning

confidence: 99%

Minorities are Underrepresented in Clinical Trials of Pharmaceutical Agents for Cystic Fibrosis

McGarry

McColley

2016

Annals ATS

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Rationale: Members of racial or ethnic minorities make up an appreciable proportion of patients with cystic fibrosis (CF) and have worse outcomes than non-Latino white individuals. Between 1,999 and 2014, the CF Foundation Patient Registry reported an increase in minorities from 5 to 8.2% for Latinos, from 3 to 4.6% for black individuals and from 1.4 to 3.1% for "Other."Objectives: To evaluate the representation of racial and ethnic minorities in pharmacology clinical trials for CF. Methods:We analyzed pharmacology clinical trials in CF published between 1999 and 2015 by searching PubMed and published study reference lists for qualifying study reports. We examined whether the race and ethnicity of study subjects were reported and, if so, what percentage of subjects represented major minority groups.Measurements and Main Results: Among 147 pharmacology clinical trials, only 19.7% reported the race or ethnicity of study subjects. Latinos were verified as included in 7.5% of clinical trials, black individuals in 6.8%, and Asians in 2.0%. Inclusion of subjects described as "Other race" was reported in 7.5% of trials. In 29 clinical trials that reported race and ethnicity, the percentage of minorities included as subjects was 2.0% for Latinos, 1.0% for black individuals, and 0.1% for Asians.Conclusions: Although CF disproportionately affects non-Latino white individuals, members of other racial or ethnic groups are proportionally underrepresented in CF pharmacology clinical trials. Inadequate inclusion of minorities and failure to report the racial or ethnic background of study subjects limits information about factors influencing drug response and may contribute to health disparities for minorities with CF.Keywords: cystic fibrosis; minority groups; ethnic groups; clinical trials

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“…Mutations limited to specific ethnic groups have also been reported. For example, c.3744delA accounts for 2.2%-5.7% of CF chromosomes in Hispanics (11,16,17 ), and p.Y1092X accounts for 37.5% of CF chromosomes in Iraqi Jews (18 ). Identification of these apparently ethnicity-limited mutations is an important aspect of addressing comprehensive CF testing.…”

confidence: 99%