TY - JOUR
T1 - Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
AU - Chau, J.F.T.
AU - Yu, M.H.C.
AU - Chui, M.M.C.
AU - Yeung, C.C.W.
AU - Kwok, A.W.C.
AU - Zhuang, X.
AU - Lee, R.
AU - Fung, J.L.F.
AU - Lee, M.
AU - Mak, C.C.Y.
AU - Ng, N.Y.T.
AU - Chung, C.C.Y.
AU - Chan, M.C.Y.
AU - Tsang, M.H.Y.
AU - Chan, J.C.K.
AU - Chan, K.Y.K.
AU - Kan, A.S.Y.
AU - Chung, P.H.Y.
AU - Yang, W.
AU - Lee, S.L.
AU - Chan, G.C.F.
AU - Tam, P.K.H.
AU - Lau, Y.L.
AU - Yeung, K.S.
AU - Chung, B.H.Y.
AU - Tang, C.S.M.
PY - 2022
Y1 - 2022
N2 - Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we performed a secondary analysis on the spectrum and carrier status for 315 genes causing autosomal recessive disorders in 1543 Southern Chinese individuals with next-generation sequencing data, 1116 with exome sequencing and 427 with genome sequencing data. Our data revealed that 1 in 2 people (47.8% of the population) was a carrier for one or more recessive conditions, and 1 in 12 individuals (8.30% of the population) was a carrier for treatable inherited conditions. In alignment with current American College of Obstetricians and Gynecologists (ACOG) pan-ethnic carrier recommendations, 1 in 26 individuals were identified as carriers of cystic fibrosis, thalassemia, and spinal muscular atrophy in the Southern Chinese population. When the >1% expanded carrier screening rate recommendation by ACOG was used, 11 diseases were found to meet the criteria in the Southern Chinese population. Approximately 1 in 3 individuals (35.5% of the population) were carriers of these 11 conditions. If the 1 in 200 carrier frequency threshold is used, and additional seven genes would meet the criteria, and 2 in 5 individuals (38.7% of the population) would be detected as a carrier. This study provides a comprehensive catalogue of the carrier spectrum and frequency in the Southern Chinese population and can serve as a reference for careful evaluation of the conditions to be included in expanded carrier screening for Southern Chinese people.
AB - Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we performed a secondary analysis on the spectrum and carrier status for 315 genes causing autosomal recessive disorders in 1543 Southern Chinese individuals with next-generation sequencing data, 1116 with exome sequencing and 427 with genome sequencing data. Our data revealed that 1 in 2 people (47.8% of the population) was a carrier for one or more recessive conditions, and 1 in 12 individuals (8.30% of the population) was a carrier for treatable inherited conditions. In alignment with current American College of Obstetricians and Gynecologists (ACOG) pan-ethnic carrier recommendations, 1 in 26 individuals were identified as carriers of cystic fibrosis, thalassemia, and spinal muscular atrophy in the Southern Chinese population. When the >1% expanded carrier screening rate recommendation by ACOG was used, 11 diseases were found to meet the criteria in the Southern Chinese population. Approximately 1 in 3 individuals (35.5% of the population) were carriers of these 11 conditions. If the 1 in 200 carrier frequency threshold is used, and additional seven genes would meet the criteria, and 2 in 5 individuals (38.7% of the population) would be detected as a carrier. This study provides a comprehensive catalogue of the carrier spectrum and frequency in the Southern Chinese population and can serve as a reference for careful evaluation of the conditions to be included in expanded carrier screening for Southern Chinese people.
U2 - 10.1038/s41525-022-00287-z
DO - 10.1038/s41525-022-00287-z
M3 - Article
VL - 7
JO - npj Genomic Medicine
JF - npj Genomic Medicine
IS - 1
ER -