Next Generation Sequencing Unveils Path to Thalassemia Prevention | BGI Insight



Dr. Peng Zhiyu, Vice President of BGI Genomics, recently emphasized that Thalassemia is highly preventable with carrier screening tests using Next-Generation Sequencing (NGS) technology. The speech was given at the 2nd International Azerbaijan Laboratory Medicine Congress & Lab Expo.

By integrating both hematological analysis and genetic analysis, NGS technology enables the detection of a wide range of pathogenic variants for carrier screening tests. The research data from case studies presented by Dr. Peng demonstrates the effectiveness of NGS technology in reducing birth defects by 25 times, comparing the figures from 2017 to 2022.

NGS: A Game Changer in Pathogenic Variant Detection


In the speech, Dr. Peng highlighted that NGS can detect over 500 pathogenic variants in a single test. This new method simplifies and outperforms traditional genetic testing methods, which typically identify less than 30 variants. This capability was further exemplified by a study where a carrier screening test using NGS technology successfully identified multiple types of variants from nearly 900 patients, including 149 individuals with alpha Thalassemia (encompassing 16 types of variants), over 400 individuals with beta Thalassemia (with 37 types of variants), and 74 individuals with both alpha and beta Thalassemia.


Both Guangzhou City and Qingyuan City are located in southern China, an area with a high prevalence of Thalassemia. In the Guangzhou City case study, the screening of 85,000 newlywed couples resulted in a significant reduction of affected births, with only one in four cases per year over a three-year period. This initiative not only improved public health but also demonstrated remarkable cost-effectiveness, with a health expenditure ratio of 1.127, translating to annual medical cost savings of USD$7 million.

Expanded carrier screening in Qingyuan City, targeting over 35,000 pregnant women annually, has proven highly effective in identifying high-risk couples, further fortifying the preventive measures against hemoglobinopathies. In the case study of Qingyuan City, it was shown that traditional methods often overlook some of the silent carriers. About 5% of individuals with negative routine blood tests were identified as carriers, while screening approximately 72,000 samples revealed a carrier rate of nearly 20%, with over 215 variants detected.

image42846210.pngThe research data from multiple case studies reveals that different areas could have specific Thalassemia genotypes unique to the region, and some of the variants are hard to identify with routine tests. Such limitations in existing tests, potentially threatening birth defects, could be eliminated through carrier screening tests, which use NGS technology.

Dr. Peng suggested areas with high Thalassemia prevalence: Expanded Carrier Screening should be offered to every pregnant woman, as it significantly reduces the incidence of birth defects. Increasing awareness of NGS and expanded carrier screening can prevent and control hemoglobinopathies, reducing the potential financial and mental burden on families, society, and the medical system.

Access the speech video for more details.

About Vista Carrier Screening

VISTA™ Carrier Screening uses Next Generation Sequencing (NGS) technology to identify individuals or couples at risk of passing on a genetic condition to their child, offering multiple panel options (Mini, Targeted, & 1200+). The latest 1200+ panel product can detect more than 1200 genetic disorders.

About NOVA™ Newborn Genetic Screening

NOVA™ Newborn Genetic Screening Test determines a baby’s risk for 246 genes associated with 112 genetic diseases, including 254 disease subtypes. Suitable for babies who have missed out on regular screening; or babies from parents with a family history of inherited disorders or from a population identified as at higher risk for genetic disease.

Read more:

BGI Genomics Global 2023 State of Thalassemia Awareness Report

Uncovering Thalassemia Diversity in Southern China through Next-Generation Sequencing

Awareness, Accessibility, and Affordability are Crucial for the Early Detection of Thalassemia