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

Area of Science:

• Medical Genetics
• Population Screening
• Molecular Diagnostics

Background:

• Recessive genetic diseases pose a significant health burden.
• Effective carrier screening strategies are crucial for reproductive planning.
• Current genetic screening methods require optimization for cost and efficiency.

Purpose of the Study:

• To develop and evaluate a cost-effective custom carrier screening panel.
• To identify carrier frequencies for specific recessive diseases in the Russian population.
• To assess the effectiveness of a targeted variant approach for genetic screening.

Main Methods:

• Development of a custom panel targeting 116 variants in CFTR, PAH, SERPINA1, and GJB2 genes.
• Genotyping of 1244 participants using the TaqMan OpenArray platform.
• Population-based cohort study to determine allele and heterozygote frequencies.

Main Results:

• The overall carrier frequency in the Russian population was 16.87% (1:6).
• Specific heterozygote frequencies were determined for cystic fibrosis (2.81%), phenylketonuria (2.33%), alpha-1 antitrypsin deficiency (4.90%), and sensorineural hearing loss (6.83%).
• This study provides the first allele frequency data for these genes in the Russian population.

Conclusions:

• The developed custom panel is an effective tool for identifying carriers of common recessive diseases.
• This approach offers a cost-effective and efficient method for population-based carrier screening.
• The findings support the implementation of targeted genetic screening to reduce the burden of recessive disorders.