Unlocking Clues in Blood: Li Jia's Multi-Omics Revolution in Disease Prevention | Chat!DNA
2024-12-18
Blood serves as a living diary of health, not only revealing the body’s current state but also offering insights into potential future risks. Over the past nine years, Li Jia has explored the hidden bio-information within the blood to better understand gestational diseases, tumor screening, and chronic disease prediction. Now as a research scientist at BGI Genomics’ Institute of Intelligent Medical Research (IIMR), Li focuses on using multi-omics methods to analyze diverse biological data and revolutionize early disease detection through blood-based biomarkers.
The key to blood's bioinformatic richness lies in cell-free DNA (cfDNA), which are DNA fragments released into the blood when cells die. These cfDNA fragments can also include "foreign" DNA, such as fetal DNA in pregnant women or tumor DNA in cancer patients. Acting as "health fingerprints," cfDNA provides critical information about fetal development. However, circulating tumor DNA (ctDNA), a type of cfDNA, can interfere with non-invasive prenatal testing (NIPT), leading to unusual results. In 2016, Li's team discovered this issue and turned it into a potential extension application for NIPT.
NIPT Reveals Pregnancy Complications
In 2016, Li Jia and his team at BGI Genomics, along with external research partners, made a groundbreaking discovery. They identified, for the first time in Asian populations, cases of pregnancy complications of stage III dysgerminoma and advanced gastric cancer through non-invasive prenatal genetic testing.
Non-invasive prenatal testing (NIPT), which examines cfDNA fragments, can detect "foreign" DNA such as fetal or tumor DNA in a simple blood test. In cancer patients, circulating tumor DNA (ctDNA)—a type of cfDNA—has been identified in plasma and is already utilized in some disease screenings.
Figure 1: Scatter plot of the whole genome copy number distribution of a normal pregnant woman
Figure 2: Scatter plot of whole genome copy number abnormalities and multiple chromosome outliers in a pregnant woman with liver cancer
"In the past, abnormal NIPT results often required retesting or other clinical methods. Now, we analyze these abnormalities in-depth and transform them into early health warning signals to benefit pregnant women. This is the value of scientific research," Li said.
This research marked the first time scientists discovered how malignant tumors during pregnancy impact the results of non-invasive prenatal genetic testing in Asian populations. It also established that gastric cancer and dysgerminoma can influence these test outcomes.
This incidental discovery lays the foundation for the future development of early tumor screening during pregnancy and other contexts. It also highlights the potential for transitioning technology to broader applications.
Building on his work in gestational diseases, another of Li’s research projects launched in 2021 is yielding significant insights, even as findings remain under review. By examining multi-omics biomarkers, his team has identified new protein markers predictive of preterm birth. “The screening technology we developed using these biomarkers outperforms current clinical indicators such as Fibronectin 1 and cervical length measurements,” Li noted. “We hope to bring these advancements to the clinic.”
Multi-Omics Study on Diseases Prediction
In recent years, from 2023 to 2024, Li’s research has pivoted toward exploring tumor detection methods using plasma and stool samples collected through Harbin’s public health initiatives. Additionally, he has investigated chronic diseases through multi-omics data in collaboration with Fuwai Hospital, Chinese Academy of Medical Sciences (CAMS).
By expanding cell-free DNA methylation analysis and integrating data such as metabolomics, tumor protein markers, immune repertoire sequencing, and intestinal fecal metagenomics, Li’s team aims to build a more comprehensive early tumor warning system. Their goal is to improve colorectal cancer screening for the elderly.
Other than only focusing on the elderly, they have expanded the study scope to the younger generation that has a higher risk of chronic diseases. The research on hypertension in younger adults aged 20 to 45 is particularly noteworthy.
“Traditionally, this age group isn’t considered high-risk, but incidence rates are rising,” Li explained. “This trend could lead to earlier target organ damage, which is why we’re investigating the underlying causes. We aim to develop predictive methods to identify high-risk individuals earlier, provide clinical guidance, and ultimately reduce morbidity and mortality.”
Looking ahead, Li remarked, “I became a researcher because I wanted to uncover the secrets of disease development and create new products that could help not just dozens but millions of people worldwide.”
About BGI Genomics
BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Its services cover more than 100 countries and regions and involve more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) officially began trading on the Shenzhen Stock Exchange.