<img src="https://cdn.it.bgi.com/source/image0414931511.png" alt="image0414931511.png" data-href="" style=""/>On December 1st, His Excellency Fahad Al-Jalajel, Saudi Minister of Health, led a political and corporate delegation to visit the BGI center. This marked the first stop of his inaugural visit to China since taking office. The delegation was jointly welcomed by Yin Ye, CEO of BGI Group; Zhao Lijian, CEO of BGI Genomics; Du Yutao, COO of BGI Genomics, Li Ning, deputy general manager of BGI Genomics, Xiong Tao, International VP of BGI Genomics; and Ma Zhe, General Manager of BGI Genomics West Asia.During the visit, the two parties exchanged views on the latest progress and prospects for cooperation in the fields of genomics and precision medicine. The Saudi delegation learned in detail about BGI Genomics' achievements in global health and biotechnology innovation, and affirmed its contribution to the prevention and control of the epidemic in Saudi Arabia during the COVID-19 pandemic. The delegation acknowledged BGI Genomics’ significant role in advancing global public health development. <img src="https://cdn.it.bgi.com/source/image5956269634.png" alt="image5956269634.png" data-href="" style=""><img src="https://cdn.it.bgi.com/source/image8891778348.png" alt="image8891778348.png" data-href="" style="">After the meeting, Zhao Lijian and Ma Zhe, signed a Memorandum of Understanding (MOU) on behalf of BGI Genomics with Eng. Fahad bin Mohammed AlShebel, CEO of NUPCO, and Mr. Fahad Abdullah Saad Al-Farraj, Executive Vice President of AL-DAWAA, respectively. Mr. The signing was witnessed by Fahad Al-Jalajel and Yin Ye.<img src="https://cdn.it.bgi.com/source/image2757943173.png" alt="image2757943173.png" data-href="" style="">Group photo of the Saudi delegation with the BGI Group and BGI Genomics management teamThe visit and signing of MOUs further solidify the strategic collaborations between BGI Genomics and partners in Saudi Arabia, marking a new milestone in cooperation between China and Saudi Arabia in the fields of public health and biotechnology. It also underscores BGI Genomics' leadership in the global biotechnology sector. Looking ahead, BGI Genomics remains committed to localized innovation and collaboration, working with partners to advance the application of genomics technology in Saudi Arabia and contribute to achieving the health goals outlined in Saudi Arabia's Vision 2030. About BGI Genomics<a href="https://www.bgi.com/global" target="_blank">BGI Genomics</a>, 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. Read more<a href="https://www.bgi.com/global/news/bgi-genomics-hosts-saudi-delegation-for-strategic-collaboration-at-bgi-center" target="_blank">BGI Genomics Hosts Saudi Delegation for Strategic Collaboration at BGI Center</a><a href="https://www.bgi.com/global/news/pioneering-precision-medicine-saudi-arabia-innovation" target="_blank">Pioneering Precision Medicine in Saudi Arabia Through Innovation</a>

BGI Genomics Welcomes Saudi Health Minister to Witness Partnership Signing

<img src="https://cdn.it.bgi.com/source/image5690938359.png" alt="image5690938359.png" data-href="" style="">In the latest cover story, "2025 Trends", in <a href="https://www.biospectrumasia.com/opinion/26/25271/3-promising-trends-for-2025.html" target="_blank">BioSpectrum Asia Edition</a>, Zhao Lijian, CEO of BGI Genomics, was invited to discuss three key trends in healthcare for 2025 that focus on digitalsation in proactive health management and the transformative role of advanced technology in disease diagnosis and prevention. AI’s Future Integration into Clinical Practice: In the coming years, AI will become seamlessly integrated into healthcare, transforming both disease detection and patient care. Advanced neural network models trained on multi-omics data will enhance our ability to predict diseases with unprecedented accuracy, making diagnostics faster and more reliable. The rise of human-machine interactions through telehealth will revolutionise medical consultations. Imagine a future where Large Language Models, like ChatGPT, provide instant, accurate medical advice, easing the burden on healthcare professionals and drastically reducing patient wait times from weeks to mere moments. AI-Integrated Multi-omics-Based Disease Risk Prediction Models: AI-powered models are increasingly being used for the early prediction and prevention of major diseases, such as malignant tumours and severe cardiovascular conditions. By integrating multi-omics data, spanning across genomics, proteomics, transcriptomics, epigenomics, metabolomics, and microbiomes, these models recreate digital representations of biological processes. This digitalisation allows for the simulation of disease progression and the effects of various interventions, using machine learning to tailor personalised treatment solutions. This approach gives clinicians critical insights for selecting the most effective treatment strategies while minimising unnecessary side effects and reducing patient suffering. Proactive Health Monitoring Model: The future of healthcare is moving beyond treatment and diagnostics to proactive health management. Our vision involves creating a comprehensive health model for continuous individual monitoring, integrating imaging data, multi-omics diagnostics, and lifestyle information to establish a 'life index'. BGI Genomics has developed such a proactive health system model, which represents a groundbreaking approach to disease prevention and personalised health management. This holistic index provides a detailed view of an individual’s health risks and outcomes, empowering proactive and informed health management. First Published: <a href="https://www.biospectrumasia.com/e-magazine" target="_blank">BioSpectrum Asia Edition December 2024</a> About BGI Genomics<a href="https://www.bgi.com/global" target="_blank">BGI Genomics</a>, 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. Read more<a href="https://www.bgi.com/global/news/china-daily-zhao-lijian-the-health-silk-road-breaks-barriers-for-better-well-being" target="_blank">China Daily | Zhao Lijian: The Health Silk Road Breaks Barriers for Better Well-Being </a><a href="https://www.bgi.com/global/news/advancing-healthcare-in-uzbekistan:-bgi-genomics-ceos-vision-shared-on-uzbekistans-national-television" target="_blank">Advancing Healthcare in Uzbekistan: BGI Genomics CEO's Vision Shared on Uzbekistan's National Television</a>

2025 Trends: Moving beyond diagnostics to proactive health management | BioSpectrum Asia

- Insights about the importance of prenatal screening and genetic testing through one mother-to-be inspiring journey.<img src="https://cdn.it.bgi.com/source/coverphotoinside0230600491.png" alt="coverphotoinside0230600491.png" data-href="" style="">When Sonia Bumbel, a 34-year-old from Romania, discovered she was pregnant, she felt a mix of excitement and caution. After four years of trying to conceive, including a difficult experience with an ectopic pregnancy that resulted in the loss of a fallopian tube, Sonia and her husband, Claudiu, were determined to do everything possible to safeguard their child’s health. For them, this pregnancy was a long-awaited blessing, and they wanted to take every precaution to ensure the well-being of their unborn baby.This Timisoara-based couple had no known family history of genetic conditions, but they were aware that certain health risks could still exist. Claudiu, who was in his forties, also felt it was essential to explore all preventive options. “We wanted to make informed choices, especially after such a long journey to start a family.” They decided to look into prenatal screening options, recognizing that understanding their baby’s health would give them peace of mind and help them make the best decisions for their family.During one of her early pregnancy check-ups, Sonia’s gynecologist introduced her to the idea of genetic and prenatal screening. This led her to consult Dr. Christina Gug, a genetic specialist, who emphasized the value of these screenings in identifying hidden health risks that might not show up in routine scans. Such advice struck a chord with this resilient woman, as she knew that a single test could be instrumental in preparing for her baby’s future.Taking Action with Comprehensive ScreeningAfter learning more, the couple decided to go ahead with a full range of screenings to check for chromosomal abnormalities and potential genetic conditions they could unknowingly carry. They chose BGI Genomics NIFTY® Pro test to screen for chromosomal conditions, along with the updated NIFTY® Mono test to detect certain dominant single-gene disorders. Additionally, with guidance from Dr. Gug, they opted for the VISTA™ Carrier Screening to assess whether either of them carried recessive genetic traits that could affect their child.Based on the test results, Sonia carries pathogenic variants in the ACADM and GJB2 genes, while Claudiu carries a pathogenic variant in the AGA gene. Since the mutations carried by the couple are located in different genes and follow an autosomal recessive inheritance pattern, their offspring would not carry two pathogenic copies of the same gene and, therefore, are at low risk of inheriting these specific genetic disorders. However, it is recommended that they undergo genetic counseling before future pregnancies to further confirm and interpret the test results.The decision to undergo comprehensive screening brought the expectant mother a sense of control. “It was a relief to know that we could check so many potential health issues with just a simple blood test,” she recalls. Despite her initial anxiety about the results, the testing process was straightforward and painless. In February 2024, she completed the blood draw, and within just ten days, received the reassurance she had hoped for—no chromosomal abnormalities or genetic risks were detected in her baby.<img src="https://cdn.it.bgi.com/source/soniavistatestpage2resized5794571419.png" alt="soniavistatestpage2resized5794571419.png" data-href="" style="width: 50%;"><img src="https://cdn.it.bgi.com/source/soniavistatestpage3resized7607746458.png" alt="soniavistatestpage3resized7607746458.png" data-href="" style="width: 30%;"><img src="https://cdn.it.bgi.com/source/soniavistatestpage4resized4080697209.png" alt="soniavistatestpage4resized4080697209.png" data-href="" style="width: 50%;">Sonia’s VISTA™ Carrier Screening results, proactively provided by her, revealing how she carries pathogenic variants in the ACADM and GJB2 genes, recommending they undergo genetic counseling before future pregnancies.Genetic Screening For a Peaceful PregnancyThe results of these screenings allowed Sonia to feel more at ease and enjoy her pregnancy. Having faced the heartbreak of failed pregnancies in the past, she found comfort in knowing that they were doing everything possible to ensure a healthy future for their child. “After so many years of trying, the last thing we wanted was uncertainty about our baby’s health,” she explains. With each test, the expectant parents felt reassured that they were prepared and informed.This determined mother emphasizes that many in Romania and Eastern Europe lack access to information about prenatal screening, as genetic testing is not widely discussed. “Without my gynecologist, I might never have known about genetic screening,” she reflects. Inspired, she now hopes to raise awareness about the benefits of early and proactive testing.<img src="https://cdn.it.bgi.com/source/sonianiftytestblurredresized2134684744.png" alt="sonianiftytestblurredresized2134684744.png" data-href="" style="">Sonia’s Nifty Pro Test result, proactively provided by her, revealing no chromosomal abnormalities or genetic risks to be inherited by her baby.Encouraging Other Expectant ParentsAs Sonia approaches her third pregnancy trimester, she’s grateful for the peace of mind these screenings have provided. “Taking these tests likely saved us from a lot of stress and worry.” Her advice to other expectant parents is simple yet powerful: “Put your future child’s health first. With the advances in medical technology today, taking these tests is a step toward a healthier future for your family.” Sonia has already encouraged friends to consider prenatal and genetic testing, emphasizing the value of knowing as much as possible before a baby is born.<img src="https://cdn.it.bgi.com/source/examesized.jpg" alt="examesized.jpg" data-href="" style="">A 3D ultrasound image of Sonia and Claudiu's baby.Today, this loving couple look forward to welcoming their child, feeling empowered by the proactive steps they’ve taken. Their journey serves as a reminder of the impact that prenatal and carrier screenings can have—not only on parents’ peace of mind but also on the long-term health and happiness of their families.Note: This content has been made available by BGI Genomics for informational and educational purposes only. It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. About NIFTY® Pro<a href="https://www.bgi.com/global/service/nifty-pro" target="_blank">NIFTY® Pro </a>is the ultimate non-invasive prenatal test that offers expectant parents comprehensive insight into their baby's health through a simple maternal blood sample. Using advanced next generation sequencing technology NIFTY® Pro screens for the risk of trisomy 21，13， 18, and sex chromosome aneuploidies, with extended screening for rare autosomal aneuploidies and 92 types of microdeletion and microduplication syndromes About NIFTY® monoThe tested product in this case is NIFTY® mono (27). NIFTY® mono is a non-invasive prenatal test that assesses the risk of monogenic diseases by analyzing cell-free fetal DNA in maternal blood starting from the 10th week of pregnancy. Currently, we offer two versions: NIFTY® mono (27) and NIFTY® mono (202).NIFTY® mono (27) focuses on 27 monogenic diseases, providing a targeted approach for assessing genetic risks.NIFTY® mono (202) screens for 202 dominant monogenic diseases—including skeletal, neurological, and muscular disorders, craniosynostosis, and multisystem syndromes—across 155 target genes.Both versions enable the detection of various clinically significant and life-altering genetic conditions in a fetus that may not be observable through ultrasound, offering a more complete picture of potential risks when a pregnancy is adversely affected by a genetic condition. About VISTA™ Carrier Screening <a href="https://www.bgi.com/global/service/vista-carrier-screening" target="_blank">Vista™ Carrier Screening</a> offers multiple panel options (Mini, Targeted, &amp; 1200+) to fit with your own condition. The latest released 1200+ panel product can detect over 1,200 genes, more than 1200 genetic disorders are covered, providing carriers with educational summarized information. About BGI Genomics<a href="https://www.bgi.com/global/news/bgi.com/global" target="_blank">BGI Genomics</a>, 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. Read more: <a href="https://www.bgi.com/global/news/proactive-testing-can-save-lives" target="_blank">Proactive Testing Can Save Lives: Hanka’s Story</a><a href="https://www.bgi.com/global/news/colorectal-cancer-survivor-uncle-rens-story" target="_blank">"I was saved from the silent killer – colorectal cancer" | Uncle Ren’s Story</a><a href="https://www.bgi.com/global/news/how-clinical-whole-exome-sequencing-helped-3-year-old-kosta" target="_blank">How Clinical Whole Exome Sequencing Helped 3-Year-Old Kosta: Patient's Voice</a><a href="https://www.bgi.com/global/news/beating-colorectal-cancer-with-early-screening-and-detection" target="_blank">Beating Colorectal Cancer with Early Screening and Detection: Patient's Voice </a>

Fostering a Healthy Pregnancy through Early Testing: Sonia’s Story

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</div>Hidden within every human body lies an intricate village—the gut microbiome, a bustling community of microorganisms working together to maintain health and balance. Once a niche scientific topic, the gut microbiome is now a hot subject of research, holding the potential to predict and prevent diseases before they even manifest."Just like dragonflies can sense subtle changes in atmospheric pressure and adapt their flight patterns to avoid bad weather, our research aims to build a similar model to help determine a person’s risk of disease,” says Ren Huahui, a researcher at the forefront of gut microbiome science, transforming small data clues into actionable health insights.Ren, a research scientist at the Institute of Intelligent Medical Research (IIMR) at BGI Genomics, has spent nearly seven years studying how subtle microbial changes in the gut can signal the early onset of cardiovascular and cerebrovascular diseases (CVDs). These conditions affect approximately <a href="https://pubmed.ncbi.nlm.nih.gov/37416519/" target="_blank">330 million people in China</a> alone, yet their early warning signs often go unnoticed—until now.From Data to Health OutcomesRen’s path into microbiome research was unconventional. Originally trained in mathematics and statistics, he was drawn to BGI Genomics by the power of its supercomputing platform. What began as data analysis evolved into a passion for decoding the human microbiome—a passion that merges his analytical skills with a profound imagination.In one groundbreaking study, Ren and his team analyzed gut bacteria in a large cohort over seven years, identifying specific microbial bacteria that could predict CVDs long before symptoms appeared. Published in <a href="https://www.nature.com/articles/s41591-024-03038-y" target="_blank">Nature Medicine</a>, the findings demonstrated that even changes in microbial communities—like the abundance of Prevotella copri—could serve as early warning signals of CVDs. “It’s like following footprints in the jungle,” Ren says. “Each clue brings us closer to understanding the bigger picture of human health.”Imagination in ScienceWhat sets Ren apart is his ability to see beyond the data. For him, scientific research is a blend of precision and creativity. “It’s like painting,” he says with a smile. “You need imagination to uncover the beauty and meaning behind the chaos.”<img src="https://cdn.it.bgi.com/source/image6347283264.png" alt="image6347283264.png" data-href="" style=""/>Ren uses vivid metaphors to make his research relatable. He describes the gut microbiome as a small village, where each microbe has a specific role: farmers cultivate nutrients, cleaners manage waste, and healers protect against invaders. Together, these microorganisms create a delicate balance that keeps the human body functioning.“When this balance is disrupted, it’s like a village falling into chaos,” Ren explains. “And that’s when disease can take hold.”By identifying these disruptions early, Ren’s work aims to not only predict disease risk but also restore balance. “In the future, we hope to find interventions to regulate the risk of CVDs and restore the balance of the gut microbiota,” he says.Ren’s studies are part of a growing field that seeks to harness the power of microbiome research to predict and prevent disease, offering hope for earlier detection and personalized healthcare solutions. Reflecting on his journey, Ren imagines his message to his future self:“Twenty years from now, I hope to say to myself, ‘You did a great job!’” About BGI Genomics<a href="https://www.bgi.com/global/news/bgi.com/global" target="_blank">BGI Genomics</a>, 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. Read<a href="https://www.bgi.com/global/news/chatdna-expert-interview-zhousi" target="_blank">Guided by Kindness: Zhou Si's Journey in Maternal-Child Health Research | Chat!DNA</a><a href="https://www.bgi.com/global/news/peruvian-engineer-drawn-to-shenzhen-by-its-natural-charm-and-urban-vibrancy" target="_blank">Peruvian engineer drawn to Shenzhen by its natural charm and urban vibrancy | CGTN</a>

Disease Prediction Breakthrough from Microbial Signatures: Ren Huahui's Journey | Chat!DNA

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</div>Since childhood, Zhou Si has been fascinated by the mysteries of the human body. Today, she's a leading researcher at the Institute of Intelligent Medical Research (IIMR) at BGI Genomics, focusing on maternal-child healthcare. She has co-authored multiple research papers in respected journals, including the <a href="https://www.bgi.com/global/news/study-identifies-diverse-pregnancy-health-atlas-in-china" target="_blank">European Journal of Epidemiology</a>, the American Journal of Obstetrics and Gynecology, BMC Medical Genomics, and Frontiers in Oncology. “As a child, I wanted to uncover every secret the world held,” she recalls. “I remember once drawing a line on my fingernail just to see how fast it would grow. Looking back, I think that was the moment a seed was planted—a fascination for research and experiment that’s never left me.” Guided by Kindness Zhou’s journey eventually led her to a field with a profound impact: maternal and infant healthcare. “On a personal level, I wanted my work to make a real difference in people’s lives. Our research has the potential to identify early predictive markers for complex pregnancy conditions, like preeclampsia and gestational diabetes, that challenge clinicians,” she explains. One pivotal moment in Zhou’s career was a seminar with Dr. Huang Hefeng, a trailblazer in Chinese reproductive medicine, where a quote at the end of the presentation left a lasting impression: “Between intelligence and kindness, I choose kindness.” These words became her guiding principle. “That’s when I knew I wanted to focus my research on maternal and infant healthcare, to use what I know to help families in need,” she explains. Driven by kindness as much as intelligence, she finds herself committed to making a tangible difference in the lives of parents and their babies. Insights from Her Latest Research<img src="https://cdn.it.bgi.com/source/Screenshot+BGI+Genomics+Large+Cohort+Reveal+Prenancy+Complications+in+China.png" alt="Screenshot+BGI+Genomics+Large+Cohort+Reveal+Prenancy+Complications+in+China.png" data-href="" style="width: 100%;"/>Working at BGI Genomics, a leader in reproductive health and prenatal genetic screening, gives her the resources to tackle these challenges head-on. From early pregnancy through delivery, <a href="https://www.bgi.com/global/news/study-identifies-diverse-pregnancy-health-atlas-in-china" target="_blank">Zhou’s team has already identified patterns in common but complex pregnancy-related conditions</a> like gestational hypertension, preeclampsia, premature birth, and gestational diabetes, recently published in the <a href="https://link.springer.com/article/10.1007/s10654-024-01157-x" target="_blank">European Journal of Epidemiology</a>. “These diseases remain challenging to predict early on, placing both mother and child at higher risk,” she says. The study’s design enables the team to track these conditions throughout pregnancy, offering hope for early diagnosis and intervention breakthroughs. This ongoing analysis will explore whether conditions experienced during pregnancy could be associated with complex pediatric issues, including autism, depression, and other genetic diseases. “Because the cohort is still young, we don’t yet have data on children beyond two years, but our goal is to observe health trends up to age three,” Zhou notes. Interesting findings along with challengesThe study has also unearthed fascinating demographic and genetic patterns across provinces. In Guangdong Province, for example, Zhou’s team observed a notably high birth rate for second and third children, followed by Shandong Province, with rates more than double those in other areas. “This may be related to economic development and local cultural traditions,” Zhou suggests. Guangdong also has the country’s highest rate of thalassemia carriers—up to seven times higher than in other regions—highlighting the importance of carrier screening to prevent birth defects. “These findings are a call to action for public health initiatives in provinces like Guangdong, where the prevalence of thalassemia is significant,” she says. But the path isn’t easy. Her work involves collaborating across multiple health institutions on the prospective large cohort study, a research design that presents unique hurdles. “The logistics alone are challenging—follow-ups, sampling, sample preparation, mailing... It’s complex, but that’s also what makes our work special,” she shares. The sheer scale and the variety of the population covered add to the research’s difficulty and make it one of the few studies of its kind worldwide. Imagination and Passion Lead the Path<img src="https://cdn.it.bgi.com/source/Zhou+Si+BGI+Genomics+Chief+Scientist.jpg" alt="Zhou+Si+BGI+Genomics+Chief+Scientist.jpg" data-href="" style="width: 100%;"/>For her, scientific research requires more than technical skill—it also calls for imagination. “Research is about exploring the unknown,” she says. “We can’t predict results, but we can steer the journey, assume a destination, and keep moving in that direction.” When working on technology that could predict complex pregnancy diseases and help clinicians in real settings, it’s often a hypothesis—an imaginative leap—that starts the process. Reflecting on her journey, she encourages young people entering science to find joy and purpose in their work. “<a href="" target="">You need to love what you’re doing</a> because passion will carry you through tough challenges. Patience is also crucial—scientific breakthroughs don’t happen overnight. In research, you’re waiting for the moment when the flowers bloom.” Her story, from a curious child drawing lines on her fingernails to a dedicated maternal-neonatal health researcher, is a testament to the power of curiosity, kindness, compassion, and imagination in driving meaningful scientific discovery. About BGI Genomics<a href="bgi.com/global" target="_blank">BGI Genomics</a>, 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. Read:<a href="https://www.bgi.com/global/news/chatdna-expert-interview-renhuahui" target="_blank">Breakthroughs in Disease Prediction from Microbial Signatures: Ren Huahui's Journey</a><a href="https://www.bgi.com/global/news/peruvian-engineer-drawn-to-shenzhen-by-its-natural-charm-and-urban-vibrancy" target="_blank">Peruvian engineer drawn to Shenzhen by its natural charm and urban vibrancy | CGTN</a>

Guided by Kindness: Zhou Si's Journey in Maternal-Child Health Research | Chat!DNA

<img src="https://cdn.it.bgi.com/source/Screenshot+BGI+Genomics+Large+Cohort+Reveal+Prenancy+Complications+in+China.png" alt="Screenshot+BGI+Genomics+Large+Cohort+Reveal+Prenancy+Complications+in+China.png" data-href="" style="width: 100%;"/>A new pregnancy health cohort study involving over 20,000 families has identified common complications, high-risk groups, and geographical trends through biological samples collected across China. The research, led by BGI Genomics in collaboration with medical centers from 12 cities in China, was published in the <a href="https://link.springer.com/article/10.1007/s10654-024-01157-x" target="_blank">European Journal of Epidemiology</a> in November 2024.<img src="https://cdn.it.bgi.com/source/Geographical+distribution+of+the+cohort+-BGI+Genomics+Large+Cohort+Reveal+Prenancy+Complications+in+China.jpg" alt="Geographical+distribution+of+the+cohort+-BGI+Genomics+Large+Cohort+Reveal+Prenancy+Complications+in+China.jpg" data-href="" style="width: 100%;"/>Geographical distribution of the cohortThe cohort, launched in 2022 and still ongoing, aims to provide advanced insights into maternal and child health. By June 2024, researchers had collected more than 161,000 biological samples—such as blood, urine, and vaginal fluid—at crucial stages of pregnancy (early, mid, late, and postpartum). This comprehensive dataset supports cutting-edge research in multi-omics and the Developmental Origins of Health and Disease (DOHaD), focusing on how early-life factors influence long-term health outcomes. Trends in Maternal Age, Weight, and Regional Differences<img src="https://cdn.it.bgi.com/source/Zhou+Si+Figure+1+Baseline+info.jpg" alt="Zhou+Si+Figure+1+Baseline+info.jpg" data-href="" style="width: 100%;"/>Figure 1. Baseline information for different regions The average age for participants is above 29, reflecting a growing trend toward older motherhood. Weight gain during pregnancy has become a concern, with the proportion of women with a pre-pregnancy BMI over 30 increasing from 5.57% to 22.16% by delivery, while those with BMIs between 25 and 30 tripled. These trends highlight the need for better weight management throughout pregnancy. Regional differences were also observed. The result found that 41% of participants were shorter than 160 cm, while 24% were taller than 165 cm, with northern provinces such as Liaoning and Inner Mongolia having the tallest women. The cesarean section rate reached 39.76%, slightly higher than in previous years. Educationally, 68.59% of participants held a bachelor’s degree, underscoring the value of education. Guangdong recorded the highest number of women with two or more children (12.22%), possibly linked to its stronger economy and higher fertility rates. Common Pregnancy Complications and High-Risk Groups<img src="https://cdn.it.bgi.com/source/Zhou+Si+Figure+2+Prevalance.jpg" alt="Zhou+Si+Figure+2+Prevalance.jpg" data-href="" style="width: 100%;">Figure 2. Prevalence of common pregnancy complications The study reported several common pregnancy complications. Premature rupture of membranes (PROM) affected 18.29% of participants, increasing the risk of infection and preterm labor. Gestational diabetes mellitus (GDM) was diagnosed in 16.74%, raising the chances of complications such as macrosomia and preeclampsia. Additionally, 8.44% of women experienced hypothyroidism, and preterm birth occurred in 4.92% of cases, requiring specialized care for underdeveloped infants. High-risk groups were identified. Women with assisted reproductive technology (ART) had higher rates of preterm birth and preeclampsia, underscoring the need for careful monitoring. Mothers aged 35 and older faced increased risks for preterm delivery and GDM, with Shandong having the highest number of older mothers. The study also identified regional disparities, with Guangdong reporting 266 cases of thalassemia out of 1,503 participants, while in other regions, only 79 cases were found among 3,339 women. Additionally, researchers found nine cases of fetal chromosomal abnormalities and four cases of fetal genetic disorders, emphasizing the importance of prenatal genetic screening. Future Research and Follow-UpProspective, multi-center, multi-omics birth cohorts offer the opportunity to study the field of DOHaD, our study provides a comprehensive approach to studying the developmental origins of health and disease. The second phase of this study is underway, with a systematic analysis of five types of pregnancy-related diseases. Researchers plan to map blood indicator curves over time and pinpoint the gestational weeks when diseases are diagnosed. This dynamic approach, leveraging multiple sampling points, will help uncover hidden relationships between phenotypes and the progression of omics data throughout pregnancy. Dr. Zhou Si, chief scientist from the Institute of Intelligent Medical Research (IIMR) at BGI Genomics, emphasized, "The study extensively collected diverse data and biological samples, making this cohort an ideal candidate for DOHaD field and multi-omics research. We aim to provide valuable insights into the developmental origins of health and disease, particularly within the context of Chinese populations." About BGI Genomics<a href="bgi.com/global" target="_blank">BGI Genomics</a>, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Its services cover more than 100 countries and regions, involving more than 2,300 medical institutions worldwide. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) officially began trading on the Shenzhen Stock Exchange. Read: <a href="https://www.bgi.com/global/news/cell-genomics-genetic-factors-linked-to-babys-metabolism" target="_blank">Research found genetic factors linked to baby's metabolism and long-term health | BGI Insight</a><a href="https://www.bgi.com/global/news/genetic-screening-revolutionizes-prenatal-diagnosis-of-congenital-heart-disease" target="_blank">Genetic Screening Revolutionizes Prenatal Diagnosis of Congenital Heart Disease | BGI Insight</a><a href="https://www.bgi.com/global/news/novel-nipt-based-method-for-detecting-copy-number-variations" target="_blank">Novel NIPT-based Method for Detecting Copy Number Variations in the DMD Gene | BGI Insight</a>

New Large-Scale Cohort Study Identifies Diverse Pregnancy Health Atlas in China | BGI Insight

The International Forum on the Diagnosis and Treatment of Rare Diseases, "Commonwealth Without Borders," was held on October 30th to 31st in Tashkent. The forum brought together global experts, medical professionals, charitable organizations, and government representatives from 19 countries to address rare diseases and enhance patient care.<img src="https://cdn.it.bgi.com/source/uzbek+con.png" alt="uzbek+con.png" data-href="" style="">Asilbek Anvarovich Khudayarov, the acting Minister of Health of Uzbekistan delivers a speech at the conferenceFrom January to September 2024, Uzbekistan registered a total of 694,000 newborns. According to statistics from the World Health Organization (WHO), the neonatal mortality rate remains at 7.68 per thousand. The relatively high neonatal mortality rate continues to pose a significant public health challenge for Uzbekistan, constraining the nation's development progress. A major highlight was the satellite session, "Modern Approaches in the Diagnosis of Rare Diseases – Experience of BGI Genomics“, a collaboration between BGI Genomics and its joint venture Genscreen Laboratory. The session featured key speakers, including Cheng Jun, General Director of the Central Asia region at BGI Genomics, Professor Valentina Larionova, Medical Director and Head of the Association of Specialists in Molecular Medicine, Medical and Laboratory Genetics, Mikhail Fedyakov, Geneticist and Head of the Genetic Department at Genscreen Laboratory, Dr. Elena Baranova, Associate Professor at the Department of Medical Genetics of the Medical Academy of Continuing Professional Education, and Viktoriya Voinova, Head of the Department of Clinical Genetics and Chief Researcher at the Research Clinical Institute of Pediatrics and Pediatric Surgery. <img src="https://cdn.it.bgi.com/source/photo_2024-11-01_14-16-20.jpg" alt="photo_2024-11-01_14-16-20.jpg" data-href="" style="">Viktoriya Voinova delivers her keynote speech in the satellite sessionViktoriya Voinova, Head of the Department of Clinical Genetics and Chief Researcher at the Research Clinical Institute of Pediatrics and Pediatric Surgery, delivered an insightful presentation titled “Genome-wide Studies and Deep Phenotyping in the Russian Cohort of Children with Autism Spectrum Disorders.” She underscored the crucial importance of comprehensive genetic research in unraveling the complexities of Autism Spectrum Disorders (ASD), which rank among the most common neurological conditions.“ Identifying the molecular genetic causes of ASD is essential for accurate diagnosis, effective medical and genetic counseling, and forms the foundation for delivering personalized care to each patient,” she emphasized. <img src="https://cdn.it.bgi.com/source/photo_2024-11-01_14-16-41.jpg" alt="photo_2024-11-01_14-16-41.jpg" data-href="" style="">Professor Valentina Larionova delivers her keynotes speech in the satellite sessionProfessor Larionova emphasizing the need for a multidisciplinary approach by underscored the complexities in treating orphan diseases, particularly when multiple organs are affected. &nbsp;“Teamwork and data exchange are paramount,” she stressed, advocating for coordinated efforts in global collaboration for rare disease prevention and treatments. <img src="https://cdn.it.bgi.com/source/photo_2024-11-01_14-16-198455699187.jpg" alt="photo_2024-11-01_14-16-198455699187.jpg" data-href="" style="">Mikhail Fedyakov delivers his keynotes speech in the satellite sessionMikhail Fedyakov, Geneticist and Head of the Genetic Department at Genscreen Laboratory, delivered a presentation on “Genetic Testing in Uzbekistan: Features and First Results,” showcasing how Whole Exome Sequencing (WES) is being utilized to diagnose rare diseases. The study revealed a high incidence of hereditary pathologies often linked to closely related marriages, confirmed hereditary diseases in 49% of cases. Fedyakov emphasized the necessity of comprehensive family screenings and the preference for WES and Whole Genome Sequencing (WGS) over genetic panels for more accurate diagnoses.Fedyakov goes on sharing findings from an HPLC-MS/MS study that screened 29,027 newborns across Uzbekistan, uncovering 14 cases of hereditary beta-oxidation disorders and five other rare hereditary diseases. He noted that mitochondrial beta-oxidation disorders are more frequent in Uzbekistan compared to global averages. During the forum, BGI Genomics showcased a variety of innovative products, including NIFTY (Non-Invasive Fetal Trisomy Testing), Carrier Screening, and WES, at the exhibition booth. Specialists from BGI Genomics and Genscreen engaged attendees with detailed overviews of their diagnostic technologies, especially on the diagnosis and treatment of rare diseases. Guided laboratory tours were offered, allowing participants to see the practical applications of these advanced genetic tools. The experience itself fostering knowledge exchange and collaboration among professionals to advance healthcare outcomes in Uzbekistan and beyond. Introducing BGI Genomics XOME cWEScWES is intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders and especially heterogeneous phenotypes. cWES sequences over 180,000 exons across 22,000 genes for more than 4,000 monogenic diseases. About BGI Genomics<a href="https://www.bgi.com/global" target="_blank">BGI Genomics</a>, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange

International Experts United in Tashkent to Tackle Rare Disease for Uzbekistan

The crowd roared as <a href="https://www.instagram.com/stanley_j/" target="_blank">Stanley Joewono</a>, a fashion and lifestyle Influencer in Indonesia, &nbsp;crossed the finish line at the Jakarta Running Festival, completing his first-ever 5K race. His heart pounded—not only from the physical exertion but from the significance of the moment. For most participants, it was just another fitness goal, but for Stanley, it marked a deeply personal triumph. “This is just the beginning—I’m ready for more and can’t wait to raise #thalassemiaawareness even more through my running journey,” Stanley wrote in his Instagram post. <img src="https://cdn.it.bgi.com/source/First+Photo+BGI+Genomics+Indonesia+Thalassemia+Survivor+Story+Stanley.png" alt="First+Photo+BGI+Genomics+Indonesia+Thalassemia+Survivor+Story+Stanley.png" data-href="" style="width: 100%;"/>Stanley’s battle began at just eight months old when he was diagnosed with beta-thalassemia major, the most severe form of the disease. His bone marrow could not produce sufficient red blood cells, leaving him dependent on regular blood transfusions to survive. Every few weeks meant another hospital visit and another financial and emotional burden for his family. The Challenges of ThalassemiaBeta thalassemia major can lead to serious complications if untreated. According to Hopkins Medicine, the spleen, liver, and heart may enlarge, while bones become brittle and deformed. Patients often face iron overload from frequent transfusions, which can lead to heart failure in adolescence or early adulthood. The cost of managing transfusion-dependent beta thalassemia (TDT) is considerable. In the U.S., the annual expenses for blood transfusions and iron chelation therapy can reach up to $75,000. Fortunately, in Indonesia, these costs are covered by the national healthcare system. Despite the fatigue and challenges imposed by his condition, Stanley refused to let thalassemia define him. He pursued an active lifestyle—cycling, jogging, and training at the gym. Exercise became a way to regain control over his life, even when the odds felt overwhelming. Breaking the Chain of ThalassemiaStanley’s greatest fear, however, was not his own health—it was the possibility of passing the disorder on to his children. Thalassemia is inherited, and if both parents are carriers, there is a significant chance their children will inherit the disease. When Stanley met Lita, the woman who would become his wife, this fear weighed heavily on him. Before they could plan a future together, they had to address the genetic risk. “I asked Lita my wife to get screened first. And thank God, the result showed she isn’t a carrier,” Stanley recalls with relief. This discovery was a turning point—the chain of thalassemia that had affected his family for generations would end with him.<img src="https://cdn.it.bgi.com/source/Second+Photo+BGI+Genomics+Indonesia+Thalassemia+Survivor+Story+Stanley.png" alt="Second+Photo+BGI+Genomics+Indonesia+Thalassemia+Survivor+Story+Stanley.png" data-href="" style="width: 100%;">#TheEarlierTheBetter The Earlier The BetterWith this newfound freedom came a sense of responsibility. Stanley is now committed to raising awareness about the importance of early screening to prevent thalassemia. “I invite everyone to get involved and get tested as soon as possible, because the earlier, the better,” he advises. “For those unsure about where to get screened, I recommend NALEYA Genomics. They provide Indonesia’s first next-generation sequencing (NGS)-based genetic screening,” he says. Based on his experience, he suggests the NALEYA-THALASEQ test, powered by BGI Genomics. NALEYA-THALASEQ, developed through a joint venture of BGI Genomics in Indonesia, NALEYA Genomics, uses advanced NGS technology to identify carrier status. BGI Genomics also offers VISTA&trade; Thalassemiaseq, a globally available test designed to help couples determine their thalassemia carrier status before or during pregnancy. This simple test requires only a small blood sample and provides crucial information for informed family planning. Stanley’s story is about more than survival—it’s about overcoming fear, breaking limitations, and inspiring others to take action. With each mile he runs and every person he motivates, Stanley knows he is racing toward a healthier, thalassemia-free future. About VISTA&trade; ThalassemiaseqBy using Multiplex PCR and Next Generation Sequencing, <a href="C:\Users\xuxiaoke\Documents\WeChat Files\q958026038\FileStorage\File\2024-10\印尼患者故事\【Flyer】Thalassemiaseq _202406.pdf" target="_blank">VISTA&trade; Thalassemiaseq</a> could detect 4 types of α-thal deletions, 11 types of β-thal deletions, more than 508 thalassemia mutations, and more than 1000 Hb mutations. About BGI Genomics<a href="bgi.com/global" target="_blank">BGI Genomics</a>, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Its services cover more than 100 countries and regions, involving more than 2,300 medical institutions worldwide. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) officially began trading on the Shenzhen Stock Exchange. Read more: <a href="https://www.bgi.com/global/news/proactive-testing-can-save-lives" target="_blank">Proactive Testing Can Save Lives: Hanka’s Story</a><a href="https://www.bgi.com/global/news/colorectal-cancer-survivor-uncle-rens-story" target="_blank">"I was saved from the silent killer – colorectal cancer" | Uncle Ren’s Story</a><a href="https://www.bgi.com/global/news/awareness-accessibility-and-affordability-are-crucial-for-the-early-detection-of-thalassemia" target="_blank">Awareness, Accessibility, and Affordability are Crucial for the Early Detection of Thalassemia</a><a href="https://www.bgi.com/global/news/elevate-trust-to-enhance-thalassemia-screening-thailand" target="_blank">Medical Sciences Dean - Elevate Trust to Enhance Thalassemia Screening in Thailand</a><a href="https://www.bgi.com/global/news/bgi-genomics-global-2023-state-of-thalassemia-awareness-report" target="_blank">BGI Genomics 2023 Global State of Thalassemia Awareness Report</a><a href="https://www.bgi.com/global/news/next-generation-sequencing-unveils-path-to-thalassemia-prevention-bgi-insight" target="_blank">Next Generation Sequencing Unveils Path to Thalassemia Prevention | BGI Insight</a>

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"I've broken the inheritance chain of thalassemia" -Survivor Story of Stanley