A Data-Driven Approach to Carrier Screening for Common Recessive Diseases

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketon...

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Bibliographic Details
Published in:Journal of personalized medicine 2020-09, Vol.10 (3), p.140
Main Authors: Kiseleva, Anna V, Klimushina, Marina V, Sotnikova, Evgeniia A, Divashuk, Mikhail G, Ershova, Alexandra I, Skirko, Olga P, Kurilova, Olga V, Zharikova, Anastasia A, Khlebus, Eleonora Yu, Efimova, Irina A, Pokrovskaya, Maria S, Slominsky, Petr A, Shalnova, Svetlana A, Meshkov, Alexey N, Drapkina, Oxana M
Format: Article
Language:English
Subjects:
Cystic fibrosis
Diagnosis
Disease
Epidemiology
Gene frequency
Genes
Genetic disorders
Genetic screening
Genotypes
Genotyping
Hearing loss
Heterozygotes
Medical research
Methods
Phenylketonuria
Population
Population genetics
Precision medicine
Preventive medicine
Software
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Summary:Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the , , and genes. The approach is based on the cheapest and fastest method, on using a small number of genes, and on the estimation of the effectiveness of carriers' detection. The custom panel was tested on a population-based cohort that included 1244 participants. Genotypes were determined by the TaqMan OpenArray Genotyping platform on the QuantStudio 12K Flex Real-Time PCR System. The frequency of heterozygotes in the Russian population was 16.87% or 1:6 (CI95%: 14.76-19.00% by Clopper-Pearson exact method): in -2.81% (1:36), -2.33% (1:43), -4.90% (1:20), and -6.83% (1:15). The data on allele frequencies were obtained for the first time on a Russian population. The panel allows us to identify the vast majority of carriers of recessive diseases in the population. It is an effective approach to carrier screening for common recessive diseases.
ISSN:2075-4426
2075-4426
DOI:10.3390/jpm10030140