Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients

Alper, Özgül M.; Wong, Lee Jun; Young, Suzanne; Pearl, Michelle; Graham, Simon; Sherwin, John E.; Nussbaum, Eliezer; Nielson, Dennis W.; Platzker, Arnold C. G.; Davies, Zoe; Lieberthal, Allan S.; Chin, Terry; Shay, Greg; Hardy, Karen; Kharrazi, Martin

doi:10.1002/humu.9281

Cited by 35 publications

(36 citation statements)

References 4 publications

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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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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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“…Those alleles in highest frequency have been recommended as additions to the current 23-mutation panel as a means to increase CF carrier detection rates in ethnic populations to levels similar to that of non-Hispanic whites. [9][10][11][12][13] Several commercial reference laboratories now offer extended panels consisting of all variants from the 23-mutation panel, as well as an increasing number of race-or region-specific alleles. 9 Purpose: The aim of this study was to compare the mutation frequency distribution for a 32-mutation panel and a 69-mutation panel used for cystic fibrosis carrier screening.…”

Section: Original Research Articlementioning

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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“…In an attempt to detect at least 90% of newborns with CF in the 3 main ancestral groups that include Hispanic, non-Hispanic white, and black infants, the California Department of Health Services Genetic Disease Branch has designed a model CF NBS algorithm using a custom mutation panel developed from an analysis of the allele frequency of a cohort of affected patients with CF. 86 When implemented, results from this screening algorithm will contribute to our understanding of the possible utility of customized population-based mutation panels for CF NBS.…”

Section: Community-customized Mutation Panelmentioning

confidence: 99%

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

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Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

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Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients

Cited by 35 publications

References 4 publications

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

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

Cystic fibrosis carrier screening in a North American population

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

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