TY - JOUR AU - Shum, Bennett O. V. AU - Bennett, Glenn AU - Navilebasappa, Akash AU - Kumar, R. Kishore PY - 2021 DA - 2021/03/31 TI - Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report JO - BMC Pediatrics SP - 154 VL - 21 IS - 1 AB - Cystic Fibrosis (CF) is one of the most prevalent autosomal recessive inherited disease in Caucasians. Rates of CF were thought to be negligible in non-Caucasians but growing epidemiological evidence shows CF is more common in Indian, African, Hispanic, Asian, and other ethnic groups than previously thought. Almost all second-tier molecular diagnostic tools currently used to confirm the diagnosis of CF consist of panels of the most common CF-causing DNA variants in Caucasians. However non-Caucasian individuals with CF often have a different spectrum of pathogenic variants than Caucasians, limiting the clinical utility of existing molecular diagnostic panels in this group. As a consequence of racially inequitable CF testing frameworks, non-Caucasians with CF encounter greater delays in diagnosis and associated harms than Caucasians. An unbiased approach of detecting CF-causing DNA variants using full gene sequencing could potentially address racial inequality in current CF testing. SN - 1471-2431 UR - https://doi.org/10.1186/s12887-021-02609-z DO - 10.1186/s12887-021-02609-z ID - Shum2021 ER -