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Updated: Sep 1, 2025

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

Carrier screening: An update.

Kuo Zhang¹, Guigao Lin¹, Jinming Li¹

¹National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, Beijing, PR China.

Clinica Chimica Acta; International Journal of Clinical Chemistry

|August 16, 2022

Summary

This summary is machine-generated.

Genetic carrier screening (CS) is now more comprehensive, identifying most people as carriers of genetic disorders. This study addresses challenges in implementing multi-disease panels for reproductive decision-making.

Keywords:

Carrier screening Genome sequencing Pan-ethnic Panel implementation

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Area of Science:

Genetics
Reproductive Medicine
Bioinformatics

Background:

Genetic carrier screening (CS) has evolved over 50 years.
Advances in genomics enable multi-disease, pan-ethnic screening.
Most individuals are identified as carriers for at least one genetic disorder.

Purpose of the Study:

To address challenges in implementing comprehensive genetic carrier screening panels.
To provide a framework for evaluating gene inclusion, condition severity, and clinical validity.
To minimize residual risks associated with expanded carrier screening.

Main Methods:

Evaluation of quantitative gene inclusion criteria.
Classification of genetic condition severity.
Assessment of clinical validity for gene-disease associations and variant classifications.
Strategies for minimizing residual risk in carrier screening.

Main Results:

The study addresses key aspects of implementing multi-disease carrier screening panels.
Provides methodologies for evaluating and classifying genetic conditions for screening.
Offers approaches to enhance the accuracy and reduce residual risk in genetic carrier screening.

Conclusions:

Multi-disease, pan-ethnic genetic carrier screening is feasible due to technological advancements.
Addressing implementation challenges is crucial for effective clinical utilization.
Standardized evaluation and risk minimization are essential for robust carrier screening programs.