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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Ethnically-unique disease burden and limitations o ...
Ethnically-unique disease burden and limitations of current expanded carrier screening panels
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Pdf Summary
Expanded carrier screening (ECS) is an important part of preconception care for identifying genetic disorders. However, the selection of genes and disorders included in screening panels is still debated, particularly due to ethnic variations in genetic variations. To address this, the study utilized family-based trio-exome sequencing to analyze the carrier status of pathogenic recessive disease-causing variants in parents of affected children. A total of 132 trio-samples were collected, and 37 different recessive diseases were diagnosed in 44 children. The most common mutations were found in COQ4, PEX1, OTC, and IKBKG genes. However, only 53.40% of parents tested positive for being carriers of the same disorders as their children. The commercial panels used in ECS covered 32.43-54.05% of the diagnosed disorders. The study highlights the limitations of current ECS panels, with genetic counselors needing to interpret negative results with caution. Future panels should consider including genes with ethnically-unique mutations. Additionally, large-scale genomic profiling is important to accurately predict the carrier rates of rare disorders, particularly in understudied populations. The study emphasizes that carrier screening should not replace newborn screening, and pretest counseling should explain that not all genetic conditions may be screened. Overall, the findings underscore the need for improved and more comprehensive ECS panels that consider ethnic variations in genetic variants and accurately predict carrier rates of rare disorders.
Asset Subtitle
Presenting Author - Chih-Ling Chen, MD; Co-Author - Ni-Chung Lee, MD, PhD; Co-Author - Yin-Hsiu Chien, MD, PhD; Co-Author - Wuh-Liang Hwu, MD, PhD; Co-Author - Miao-Zi Hung, Master; Co-Author - Yi-Lin Lin, Master; Co-Author - Shin-Yu Lin, MD, PhD; Co-Author - Chien-Nan Lee, MD;
Meta Tag
Exome sequencing
Genetic Testing
Co-Author
Ni-Chung Lee, MD, PhD
Co-Author
Yin-Hsiu Chien, MD, PhD
Co-Author
Wuh-Liang Hwu, MD, PhD
Co-Author
Miao-Zi Hung, Master
Co-Author
Yi-Lin Lin, Master
Co-Author
Shin-Yu Lin, MD, PhD
Co-Author
Chien-Nan Lee, MD
Presenting Author
Chih-Ling Chen, MD
Keywords
Expanded carrier screening
Genetic disorders
Ethnic variations
Genetic variations
Recessive diseases
COQ4 gene
PEX1 gene
OTC gene
IKBKG gene
Rare disorders
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