Abstract：
BACKGROUND: Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups.
OBJECTIVE: Our objectives were to identify differences in detection rate by race and ethnicity for CFTR variant panels, identify each US state detection rate for CFTR variant panels, and describe the rate of false-negative NBS and delayed diagnoses by race and ethnicity.
METHODS: This is a cross-sectional analysis of the detection rate of at least 1 CFTR variant for seven panels by race and ethnicity in genotyped people with CF (PwCF) or CFTR-related metabolic syndrome (CRMS)/CFTR-related disorders in CF Foundation Patient Registry (CFFPR) in 2020. We estimated the case detection rate of CFTR variant panels by applying the detection rate to Census data. Using data from CFFPR, we compared the rate of delayed diagnosis or false-negative NBS by race and ethnicity.
RESULTS: For all panels, detection of at least 1 CFTR variant was highest in non-Hispanic White PwCF (87.5%-97.0%), and lowest in Black, Asian, and Hispanic PwCF (41.9%-93.1%). Detection of at least 1 CFTR variant was lowest in Black and Asian people with CRMS/CFTR-related disorders (48.4%-64.8%). States with increased racial and ethnic diversity have lower detection rates for all panels. Overall, 3.8% PwCF had a false-negative NBS and 11.8% had a delayed diagnosis; Black, Hispanic, and mixed-race PwCF were overrepresented.
CONCLUSIONS: CFTR variant panels have lower detection rates in minoritized racial and ethnic groups leading to false-negative NBS, delayed diagnosis, and likely health disparities.
OBJECTIVE: Our objectives were to identify differences in detection rate by race and ethnicity for CFTR variant panels, identify each US state detection rate for CFTR variant panels, and describe the rate of false-negative NBS and delayed diagnoses by race and ethnicity.
METHODS: This is a cross-sectional analysis of the detection rate of at least 1 CFTR variant for seven panels by race and ethnicity in genotyped people with CF (PwCF) or CFTR-related metabolic syndrome (CRMS)/CFTR-related disorders in CF Foundation Patient Registry (CFFPR) in 2020. We estimated the case detection rate of CFTR variant panels by applying the detection rate to Census data. Using data from CFFPR, we compared the rate of delayed diagnosis or false-negative NBS by race and ethnicity.
RESULTS: For all panels, detection of at least 1 CFTR variant was highest in non-Hispanic White PwCF (87.5%-97.0%), and lowest in Black, Asian, and Hispanic PwCF (41.9%-93.1%). Detection of at least 1 CFTR variant was lowest in Black and Asian people with CRMS/CFTR-related disorders (48.4%-64.8%). States with increased racial and ethnic diversity have lower detection rates for all panels. Overall, 3.8% PwCF had a false-negative NBS and 11.8% had a delayed diagnosis; Black, Hispanic, and mixed-race PwCF were overrepresented.
CONCLUSIONS: CFTR variant panels have lower detection rates in minoritized racial and ethnic groups leading to false-negative NBS, delayed diagnosis, and likely health disparities.
摘要：
背景：囊性纤维化（CF）的新生儿筛查（NBS）算法在美国有所不同，包括不同的囊性纤维化跨膜传导调节因子（CFTR）变体。CFTR变体分布在种族和族裔群体之间有所不同。
目的：我们的目标是确定CFTR变体组的种族和种族检出率差异，确定CFTR变体面板的每个美国州检测率，并描述了按种族和民族划分的假阴性NBS和延迟诊断率。
方法：这是对2020年CF基金会患者登记处（CFFPR）或CFTR相关代谢综合征（CRMS）/CFTR相关疾病的基因型人群中按种族和种族划分的七个小组中至少1个CFTR变体的检出率的横断面分析。我们通过将检出率应用于人口普查数据来估计CFTR变体面板的病例检出率。使用CFFPR的数据，我们比较了不同种族和民族的NBS延迟诊断或假阴性率.
结果：对于所有面板，在非西班牙裔白人PwCF中检测到至少1个CFTR变体最高（87.5％-97.0％），最低的黑色，亚洲人,和西班牙裔PwCF（41.9%-93.1%）。在患有CRMS/CFTR相关疾病的黑人和亚洲人中，至少1个CFTR变体的检测最低（48.4％-64.8％）。种族和族裔多样性增加的国家对所有小组的检出率较低。总的来说,3.8%的PwCF有假阴性NBS，11.8%的患者有延迟诊断；西班牙裔,混血PwCF的比例过高。
结论：CFTR变体面板在少数种族和族裔群体中的检出率较低，导致假阴性NBS，延迟诊断,和可能的健康差异。
目的：我们的目标是确定CFTR变体组的种族和种族检出率差异，确定CFTR变体面板的每个美国州检测率，并描述了按种族和民族划分的假阴性NBS和延迟诊断率。
方法：这是对2020年CF基金会患者登记处（CFFPR）或CFTR相关代谢综合征（CRMS）/CFTR相关疾病的基因型人群中按种族和种族划分的七个小组中至少1个CFTR变体的检出率的横断面分析。我们通过将检出率应用于人口普查数据来估计CFTR变体面板的病例检出率。使用CFFPR的数据，我们比较了不同种族和民族的NBS延迟诊断或假阴性率.
结果：对于所有面板，在非西班牙裔白人PwCF中检测到至少1个CFTR变体最高（87.5％-97.0％），最低的黑色，亚洲人,和西班牙裔PwCF（41.9%-93.1%）。在患有CRMS/CFTR相关疾病的黑人和亚洲人中，至少1个CFTR变体的检测最低（48.4％-64.8％）。种族和族裔多样性增加的国家对所有小组的检出率较低。总的来说,3.8%的PwCF有假阴性NBS，11.8%的患者有延迟诊断；西班牙裔,混血PwCF的比例过高。
结论：CFTR变体面板在少数种族和族裔群体中的检出率较低，导致假阴性NBS，延迟诊断,和可能的健康差异。
