The Saudi Society of Medical Genetics Annual Conference 2023 was held in Riyadh, Saudi Arabia, on September 29-30, 2023. As the most authoritative academic conference on precision medicine in the Kingdom, this conference attracted global experts worldwide.<img src="https://cdn.it.bgi.com/source/saudi1rebootedresized.jpg" alt="saudi1rebootedresized.jpg" data-href="" style="">Mr. Luo with the Assistant Secretary-General of Saudi Health Council, Dr. Moataz Billah Al-Ruwaithi, Director of Applied and Clinical Research of Riyadh Hospital Cluster II, Dr. Saleh Alghamdi, President of SSMG, Dr. Amal Alhashem and others in a group photo.One of the highlights of the conference was the presentation entitled "Spatial-temporal sequencing and some large-scale application of precision medicine technologies," delivered by Dr. Louis (Renyuan) Luo, VP of BGI Genomics West Asia, at the invitation of the Saudi Society of Medical Genetics.<img src="https://cdn.it.bgi.com/source/saudi2rebootedresized.jpg" alt="saudi2rebootedresized.jpg" data-href="" style="">Mr. Luo delivering the presentation during event.Dr. Luo's presentation discussed the importance of spatiotemporal sequencing technology in the field of precision medicine and its potential large-scale applications, introduced the company's case studies, such as the world's first multi-center project of newborn genetic screening, large-scale regional noninvasive prenatal testing (NIPT) coverage and extensive early screening project of colorectal cancer at Wuhan, Hubei province, China.Besides sharing BGI Genomics research achievements and innovative applications in enhancing medical outcomes, Dr. Luo highlighted Genalive, BGI Genomics joint venture laboratory in the Kingdom of Saudi Arabia. This is the result of a localized strategic partnership aiming to provide cutting-edge precision medicine services, promote development and contribute to improving the country's healthcare system.<img src="https://cdn.it.bgi.com/source/saudi3.jpg" alt="saudi3.jpg" data-href="" style="">Mr. Luo with the Assistant Secretary-General of Saudi Health Council, Dr. Moataz Billah Al-Ruwaithi, Director of Applied and Clinical Research of Riyadh Hospital Cluster II, Dr. Saleh Alghamdi, President of SSMG, Dr. Amal Alhashem and others in a group photo.The success of Dr. Luo's presentation paves the way for deepening future localized collaboration and innovation in Saudi Arabia. BGI Genomics will continue to support the realization of Saudi Vision 2030 through active participation in global cooperation and exchanges in the field of precision medicine to enhance patients' health outcomes.About BGI Genomics:BGI Genomics, 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 of 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.Read more:<a href="https://www.bgi.com/global/news/from-saudi-arabia-to-serbia-how-bri-enhances-healthcare-and-lives" target="_blank">From Saudi Arabia to Serbia – How BRI Enhances Healthcare and Lives</a><a href="https://www.bgi.com/global/news/bgi-genomics-unveils-genalives-cutting-edge-clinical-lab-in-saudi-arabia" target="_blank">BGI Genomics Unveils Genalive's Cutting-Edge Clinical Lab in Saudi Arabia</a><a href="https://www.bgi.com/global/news/mens-health-matters-spotting-prostate-colorectal-and-heart-threats-in-saudi-arabia" target="_blank">Men's Health Matters: Spotting Prostate, Colorectal, and Heart Threats in Saudi Arabia</a><a href="https://www.bgi.com/global/news/ramadan-mubarak-to-muslims-worldwide-and-learn-how-fasting-affects-your-gut" target="_blank">Ramadan Mubarak to Muslims worldwide and learn how fasting affects your gut! </a>

BGI Genomics Pioneering Precision Medicine Advancements in Saudi Arabia

The Belt and Road Initiative (BRI) isn't just about connecting nations with roads and ports; it's rewiring our approach to health. As a leader in precision medicine services, BGI Genomics seeks to transform lives through constant innovation and partnerships. From Riyadh to Belgrade, these collaborations have introduced cutting-edge gene sequencing and personalized therapies to enhance healthcare outcomes. With 2023 marking the 10th anniversary of the Belt and Road Initiative (BRI), BGI Genomics staff Jelena Crnjanski, Sales Manager, Serbia, and Mohammad Abdullah Alharthi, Government Affairs Specialist, Saudi Arabia, take the opportunity to share their perspectives. <img src="https://cdn.it.bgi.com/source/image840.png" alt="image840.png" data-href="" style="width: 50%;"><img src="file:////private/var/folders/49/4t0tpyrs5rb21dxwbd8g8k800000gp/T/com.kingsoft.wpsoffice.mac.global/wps-keithlam/ksohtml//wps1.png" alt="" data-href="" style=""> Jelena Crnjanski spending time with her family membersWith over 20 years of experience in pharmaceutical product management, sales, strategy development and market access, Crnjanski said: “As a pharmacist deeply interested in oncology and rare disease treatment, I am very acquainted with the genetic testing clinical significance and impact in both diagnostic and treatment decisions, so it greatly motivates me to try to bring this innovative testing possibilities to the Serbian market, knowing there is a high unmet medical need.” A <a href="https://www.bgi.com/global/news/serbia-partners-bgi-genomics-to-enhance-healthcare-through-dna-testing-technology" target="_blank">Memorandum of Understanding (MoU)</a> was signed on April 28, 2023, between the Serbian Ministry of Health and BGI Genomics to strengthen existing collaboration and exchange. Under the MoU, both parties will enter a strategic partnership to promote genomics testing in the clinical field, leverage resources and knowledge to further enhance public health, and boost innovation. One of the projects to kick start the partnership is a joint promotion program for colorectal cancer prevention and early detection, using BGI Genomics' novel multi-target fecal DNA-based technology.<img src="https://cdn.it.bgi.com/source/image736.png" alt="image736.png" data-href="" style="width: 100%;"><img src="file:////private/var/folders/49/4t0tpyrs5rb21dxwbd8g8k800000gp/T/com.kingsoft.wpsoffice.mac.global/wps-keithlam/ksohtml//wps2.png" alt="" data-href="" style=""> Jelena Crnjanski (first from right) is part of the delegation that met Prof. Danica Grujicic, Minister of Health of Serbia on April 25, 2023 It is worth noting that the <a href="https://www.skriningsrbija.rs/eng/colorectal-cancer-screening/" target="_blank">Institute of Public Health</a> in Serbia reports that colorectal cancer is the second most common malignancy in morbidity and mortality. Around 4,500 people are diagnosed yearly, and over 75 percent of these cases are diagnosed late, with higher mortality. <img src="file:////private/var/folders/49/4t0tpyrs5rb21dxwbd8g8k800000gp/T/com.kingsoft.wpsoffice.mac.global/wps-keithlam/ksohtml//wps3.jpg" alt="" data-href="" style=""> <img src="https://cdn.it.bgi.com/source/image506.png" alt="image506.png" data-href="" style="width: 50%;">Mohammad in China-Saudi Arabia Investment Cooperation ForumAfter studying the Chinese language at East China Normal University for six years, Mohammad’s friends sometimes address him as a zhong guo tong (China expert). During the COVID-19 pandemic, BGI Genomics established “Huo-Yan” laboratories in Saudi Arabia and Mohammad was a Ministry of Health translator assigned to these laboratories. He recalled: “I was impressed by BGI Genomics and their excellent staff, and I joined the company to learn and advance together the company’s business in the MENA region.” Starting in human resources before moving to government relations at BGI Genomics, Mohammad is a key team player in enhancing global communication. He embodies the BRI spirit, acting as a crucial bridge between China and Saudi Arabia, fostering collaboration to enable more local talents to master advanced laboratory technology. &nbsp; Since 2020, BGI Genomics has conducted five comprehensive training programs at Saudi Arabia, including quantitative polymerase chain reaction (qPCR), enzyme-linked immunosorbent assay (ELISA), next-generation sequencing (NGS), lab laboratory maintenance and standard laboratory operations. 432 trainees by 11 batches have been trained and certified.<img src="file:////private/var/folders/49/4t0tpyrs5rb21dxwbd8g8k800000gp/T/com.kingsoft.wpsoffice.mac.global/wps-keithlam/ksohtml//wps4.png" alt="" data-href="" style=""/> <img src="https://cdn.it.bgi.com/source/image475.png" alt="image475.png" data-href="" style="width: 100%;"/>MoU signing ceremony for training Only 19 percent of Saudi Arabian women are diagnosed at stage I of cervical cancer where survival rates are highest, according to a <a href="https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2020.25" target="_blank">study</a> by King Abdulaziz University. To further boost awareness and research on disease prevention, BGI Genomics signed a Memorandum of Understanding with King Faisal Specialist Hospital & Research Centre (KFSHRC) in December 2022. Both parties would consider establishing a joint innovation center, developing disease prevention tools, and conducting genomic and personalized genetic medicine studies. <img src="https://cdn.it.bgi.com/source/image665.png" alt="image665.png" data-href="" style="width: 100%;">Source: KFSHRC LinkedIn accountIn line with the company’s mission of “Omics for all”, Jelena and Mohammad’s work reflects BGI Genomics' commitment to leverage BRI to enhance people-to-people connectivity and enhance accessibility, availability and affordability of precision medicine solutions. &nbsp;

From Saudi Arabia to Serbia – How BRI Enhances Healthcare and Lives

Community-acquired pneumonia (CAP) is a major infectious disease worldwide and contributes to high mortality and massive economic burden. Hospital mortality among the severe CAP (SCAP) remains high, ranging from 25% to more than 50%.Early identification of patients at high risk of death is essential for improving patient outcomes. However, predicting outcomes in patients with SCAP is challenging, as the disease is complex and influenced by various factors, including the types of pathogen causing the infection, the host immune response, and underlying medical conditions.In this study published in <a href="https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(23)00356-0/fulltext" target="">eBioMedicine </a>(a Lancet publication), a team led by Dr. Jinmin Ma, BGI Genomics &nbsp;Infection Department Chief Science Officer and Prof. Jieming Qu, Ruijin Hospital, conducted research on SCAP patients to explore the pulmonary microbiota and host responses of different outcomes since the genetic differences could be detected more easily in the most severe patients as opposed to mildly severe patients.Methods and FindingsBGI Genomics researchers used metagenomic and transcriptomic analysis to identify a new set of biomarkers that can predict 30-day mortality in patients with SCAP.The study included 275 patients with SCAP from 18 hospitals in China. Researchers performed DNA and RNA-based metagenomic next-generation sequencing of bronchoalveolar lavage ﬂuid (BALF), sputum, and blood samples from 275 SCAP patients with varied characteristics and outcomes to analyze the differences in the microbes and host responses between them.<img src="https://cdn.it.bgi.com/source/image1.jpg" alt="image1.jpg" data-href="" style="">Study design. mNGS: metagenomic next-generation sequencing. BALF: bronchoalveolar lavage ﬂuid. Pathogen detection is an integrated diagnosis including routine bacterial/fungal cultures, polymerase chain reaction (PCR) for virus detection, urine—antigen test, pathogen—speciﬁc antibody titre, metagenomic next generation sequencing (mNGS) method, as well as features (laboratory tests and imaging ﬁndings).The researchers identified nine sets of biomarkers, both metagenomic and transcriptomic ones that were associated with 30-day mortality. The biomarkers were validated in an independent cohort of patients with SCAP and were able to predict 30-day mortality with an accuracy of 85%. This is significantly higher than the accuracy of existing clinical prediction models, which typically have accuracies of around 70%.<img src="https://cdn.it.bgi.com/source/230920-2.jpg" alt="230920-2.jpg" data-href="" style="">Impact of age and gender on outcomes of SCAP patients and its potential mechanisms. (a) The column chart showing differential 30-day morality of SCAP patients at different ages. The vertical line shows the cut-off age for patients to be at higher risk of 30-day death. The males were indicated in blue. The females were marked in red. (b) The box plot shows the 30-day death rate of four groups, including the females aged 55 (red), the females &gt;55 (light green), the males aged 55 (blue), and the males &gt;55 (purple). (c) The column chart shows DEGs in BALF and blood in the elder (patients aged &gt;55) group compared to the young (patients aged 55) group. (d) The GO and KEGG pathway enrichment analysis of the outcomes-related DEGs between the elder male patients and the young male patients. Other key findings:<ul><li>The study revealed that 30-day mortality was independent of pathogen category, microbial diversity or speciﬁc microbial taxa, while signiﬁcant differences in host gene expression patterns were suggested to be responsible for different outcomes.</li><li>Clinical characteristics analysis showed that male sex with age over 55 years was a risk factor for poor prognosis, and speciﬁc enrichment of genes and signaling pathways were found in omics data.</li></ul>Potential of Biomarkers Utilization<ul><li>The new biomarkers could have the following potential benefits for patients with SCAP</li><li>Improve the accuracy of predicting and reducing mortality, which could lead to better clinical decision-making. </li><li>Identify patients at high risk of death, who could then be targeted with more aggressive treatment.</li><li>Reduce the need for invasive procedures, such as lung biopsies, which are associated with risks.</li><li>Improve the allocation of healthcare resources by identifying patients who are most likely to benefit from intensive care.</li><li>Develop new therapeutic strategies by identifying biomarkers that are associated with poor outcomes.</li></ul> About BGI Genomics:BGI Genomics, 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 of 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange. Read more:<a href="https://www.bgi.com/global/news/introducing-gpmeta-ultrarapid-gpu-accelerated-pathogen-identification-approach-bgi-insights" target="_blank">Introducing GPMeta: Ultrarapid GPU-accelerated Pathogen Identification Approach</a><a href="https://www.bgi.com/global/news/hrd-detection-predicts-sensitivity-to-platinum-based-chemotherapy-for-ovarian-cancer-patients-in-china-bgi-perspectives" target="_blank">HRD Detection Predicts Sensitivity to Platinum-based Chemotherapy for Ovarian Cancer patients in China</a><a href="https://www.bgi.com/global/news/mngs-outperforms-microbiological-tests-to-diagnose-bloodstream-infections-bgi-perspectives" target="_blank">mNGS Outperforms Microbiological Tests to Diagnose Bloodstream Infections</a>

Harnessing Metagenomic Sequencing for Precision Treatment in Pneumonia Care | BGI Insight 

Newborn screening (NBS) is routinely performed worldwide using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders. Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied.To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test, a recent study conducted by eight NBS centers and BGI Genomics was published in <a href="https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2809067" target="_blank">JAMA Network Open</a>.These results – from this pioneering study that incorporates gene panel sequencing into NBS as a concurrent first-tier screening strategy on a large population scale – indicate that approximately one out of every 500 newborns benefited from the integration of gene panels as a first-tier screening test.Method and Findings:Researchers aimed to evaluate the ability of genetic sequencing methods to detect monogenic disorders in newborns. This prospective cohort study included 29,601 newborns recruited from eight newborn screening centers in China between February 21 and December 31, 2021. Neonates with positive results were followed up before July 5, 2022.The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel.Key findings include:1. Via genetic sequencing, 813 infants screened positive (2.7%; 95% CI, 2.6%-2.9%), with 402 of these resulting in a diagnosis, which is a positive predictive value of 50.4% (95% CI, 50.0%-53.9%).<img src="https://cdn.it.bgi.com/source/image2.jpg" alt="image2.jpg" data-href="" style="">Study Flowchart2. The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by solely genetically screened disorders, which translates into one out of every 500 newborns (95% CI, 1/385-1/625).<img src="https://cdn.it.bgi.com/source/image3.jpg" alt="image3.jpg" data-href="" style="">3. A total of 445 newborns were diagnosed with 13 disorders screened by both genetic and biochemical NBS, which included G6PD deficiency (328 newborns), congenital hypothyroidism and isolated HTT (94 newborns), and amino acid, organic acid, or fatty acid oxidation disorders (23 newborns). While 82 of these patients were undetected by genetic NBS (and detected by biochemical NBS), it was notable that 20 of these patients were detected by genetic NBS (while undetected by biochemical NBS).4. A total of 328 patients with G6PD deficiency (282 male and 46 female) were identified. All were detected by genetic NBS, but 10 male patients were not detected by biochemical NBS; instead, they were confirmed in the confirmatory tests. Overall, the fluorometric assay had a sensitivity of 96.95% (95% CI, 94.48%-98.33%) and a specificity of 99.71% (95% CI, 99.64%-99.77%), whereas genetic NBS had a sensitivity of 100% (95% CI, 98.84%-100%) and a specificity of 98.61% (95% CI, 98.46%-98.75%) for G6PD deficiency.Leveraging Genetic Sequencing for NBS This study presents the outcomes of genetic NBS as a first-tier screening test in clinical settings, which is of great importance to clinicians, geneticists, and families for better health care and counseling.For example, a benefit of incorporating genetics with biochemical NBS is to reduce the number of false positives. This study's data demonstrate that the positive predictive value (PPV) of genetic NBS is significantly higher than that of biochemical NBS, except for the fluorometric assay for G6PD in female newborns. The difference was highly apparent for amino acid, organic acid, and fatty acid oxidation disorders (70.83% by genetic NBS vs 5.29% by tandem mass spectrometry; P &lt; .001), which is in line with previous studies. Reducing the number of false positives would, in turn, relieve the stress and anxiety of parents and decrease the number of follow-ups.The research team acknowledged that further studies and collaborations are needed to validate these findings across populations and healthcare systems worldwide, which will lead to the refinement and optimization of newborn screening protocols.This project follows relevant regulations related to biological and medical research and has been approved by the Ethics Committee of eight newborn screening centers and BGI Genomics.About BGI Genomics:BGI Genomics, 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 of 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.Read more:<a href="https://www.bgi.com/global/news/how-cfrna-could-revolutionize-preeclampsia-diagnosis" target="_blank">How cfRNA Could Revolutionize Preeclampsia Diagnosis</a><a href="https://www.bgi.com/global/news/whole-genome-sequencing-is-a-more-comprehensive-prenatal-test-l-bgi-perspectives" target="_blank">Whole-genome sequencing is a more comprehensive prenatal test</a><a href="https://www.bgi.com/global/news/how-can-whole-genome-sequencing-and-carrier-test-help-screening-for-birth-defects-bgi-perspectives" target="_blank">How can whole genome sequencing and carrier test help screening for birth defects</a><a href="https://www.bgi.com/global/news/what-10-years-of-experience-in-non-invasive-prenatal-testing-applications-can-tell-us-l-bgi-perspectives" target="_blank">What 10 years of experience in non-invasive prenatal testing applications can tell us</a>

Genomic Sequencing as a First-Tier Screening Test for Newborns | BGI Insight

Brunei Darussalam's healthcare landscape achieved another significant feat with the launch of the Borneo Genomics Innovation Sdn Bhd (BGIB) Molecular Testing Lab on August 16, 2023, a state-of-the-art laboratory offering invasive prenatal testing, screening for Down syndrome, detection of human papillomavirus (HPV) and COLOTECT, a non-invasive method of screening for colorectal cancer.Operating under ISO 15189 standards that requires robust and reliable quality management systems, the BGIB Molecular Testing Lab was launched by Minister of Health Dato Seri Setia Dr Haji Mohd Isham bin Haji Jaafar, who is also the Chairman and Executive Director of Jerudong Park Medical Centre (JPMC) and Chairman of Pantai Jerudong Specialist Centre (PJSC) at PJSC lecture theatre.BGIB Chief Executive Officer Jeremy Cao shared the journey of BGIB in the Sultanate whereby the company first set up the Hou-Yan laboratory during the COVID-19 pandemic in 2020 and the Hou-Yan AirLab at Bridex Hall during the second wave of COVID-19 in 2021 to enhance testing and screening.He said, “We signed a memorandum of understanding with the Ministry of Health (MoH) to initiate the HPV screening pilot project and we have conducted around 100 tests which is a game changer for HPV testing by sending the screening kits to homes. Since our lab is located at JPMC, a walking distance from PJSC, the HPV screening can be done within 24 hours. This is a transformation and digitalisation of healthcare.”Cao also revealed that BGIB hopes to build the Sultanate as a regional centre through the high standard molecular lab for public health projects."The lab can also monitor new strains of pathogen. This can help build healthcare infrastructure. In addition, to clinical testing, the platform can also be used for research, educational and training as well as building capacity. The collaboration with the MoH demonstrates BGIB's dedication to advancing the medical industry and providing accessible precision medicine and molecular testing services through the BGIB molecular testing laboratory," he added.Following the launch, the minister and senior officials toured the facility.The launching of the BGIB molecular testing lab stands as a testament of Brunei's commitment to fostering excellence in healthcare and embracing innovative solutions to meet the nation's evolving medical needs.The laboratory plans to provide thalassemia and screening services for cancer markers in the future. <img src="https://cdn.it.bgi.com/source/1402.jpeg" alt="1402.jpeg" data-href="" style="">Minister of Health Dato Seri Setia Dr Haji Mohd Isham bin Haji Jaafar and Borneo Genomics Innovation Sdn Bhd (BGIB) Chief Executive Officer Jeremy Cao during the ribbon-cutting ceremony. PHOTO: JAMES KON <img src="https://cdn.it.bgi.com/source/2511.jpeg" alt="2511.jpeg" data-href="" style="">The minister and BGIB CEO tour the facility. PHOTO: JAMES KON Source: <a href="https://borneobulletin.com.bn/new-molecular-testing-lab-unveiled-for-prenatal-cancer-screening/" target="_blank">Borneo Bulletin</a>

BGI Genomics Launches ISO 15189 Certified Lab in Brunei 

Around 5.2% of the global population carries abnormal hemoglobin genes [1]. Each year, 300,000 to 500,000 children are born with severe hemoglobinopathies worldwide, with approximately 80% of these cases occurring in developing countries [2]. Thalassemia is the most common hereditary hemoglobinopathy and occurs in 4.4 out of every 10,000 live births [3]. It is prevalent in Mediterranean coastal areas, Africa, the Middle East, Southeast Asia, and southern China.A previous study indicated that Ganzhou, the southernmost city in Jiangxi province, had a thalassemia prevalence as high as 9.49% [4]. Still, it had limitations in terms of small sample size, non-representative population and limited mutation spectrum. A <a href="https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00520-5" target="_blank">new study</a> by Tong Yang, Xuemei Luo, Yanqiu Liu, Wenqian Zhang (BGI Genomics, Senior Manager Clinical Research) et al. published on August 18, 2023 in Human Genomics looks at the prevalence and mutation spectrum of thalassemia in Ganzhou-based on a large-scale thalassemia screening project involving 136,312 individuals.Method:In this study, the researchers retrospectively analyzed 136,312 individuals who participated in the "Implementation Plan for the Free Gene Detection of Thalassemia in Ganzhou City (2019–2022)".Key findings:1. Found a total of 19,827 (14.545%) thalassemia carriers, including 14,298 (10.489%) α-thalassemia carriers, 4,921 (3.610%) β-thalassemia, and 608 (0.446%) combined α- and β-thalassemia carriers.2. A total of 156 distinct thalassemia genotypes were identified, comprising 40 α-thalassemia genotypes, 42 β-thalassemia genotypes and 74 combined α-/β-thalassemia genotypes. 48 rare thalassemia mutations were identified, such as 5'UTR +43 to +40 (-AAAC), Chinese Gγ+(Aγδβ)0, --THAI, αfusion, -50 G &gt; A, and Hb Phnom Penh. 3. The prevalence of thalassemia was higher in the southeastern Jiangxi Province at the junction of Fujian, Guangdong, and Jiangxi Provinces. In particular, Dingnan and Xunwu had a high prevalence of 18.3% and 17.7%, respectively.<img src="https://cdn.it.bgi.com/source/picture1.jpg" alt="picture1.jpg" data-href="" style=""/>Detection rate of thalassemia and its distribution in Southern Jiangxi, China4. Next-Generation Sequencing (NGS) techniques perform better than conventional thalassemia genetic screening methods, especially in identifying novel or rare thalassemia mutations. Limited by the low sensitivity of hematological analysis and the disadvantages of Polymerase chain reaction (PCR), a large number of novel or rare thalassemia variations would be missed or misdiagnosed using traditional screening methods. NGS is also a cost-effective tool for prenatal screening.<img src="https://cdn.it.bgi.com/source/picture3.jpg" alt="picture3.jpg" data-href="" style=""/>This study utilized large-scale thalassemia screening through NGS to uncover the prevalence and mutation spectrum of thalassemia in Ganzhou, demonstrating that thalassemia is a serious public health problem in this region. The findings will be very important for thalassemia prevention and control in Ganzhou and other high-prevalence areas. More importantly, the identification of rare and novel variations highlighted the necessity and significance of choosing NGS for thalassemia screening in large populations.References:[1] Modell B, Darlison M. Global epidemiology of hemoglobin disorders and derived service indicators. Bulletin of the World Health Organization 2008; 86(6):480-7.[2] WHO TIF Meeting on the Management of Haemoglobin Disorders, World Health Organization, Thalassaemia International Federation. Management of hemoglobin disorders: report of a joint WHO-TIF meeting, Nicosia, Cyprus, 16-18 November 2007. Geneva: World Health Organization; 2008.[3] Kadhim, K. A., Baldawi, K. H., & Lami, F. H. (2017). Prevalence, Incidence, Trend, and Complications of Thalassemia in Iraq. Hemoglobin, 41(3), 164–168. https://doi.org/10.1080/03630269.2017.1354877[4] Lin M, Zhong T-Y, Chen Y-G, Wang J-Z, Wu J-R, Lin F, et al. Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China. PloS One Learn more about BGI Genomics strategy to control hemoglobinopathies worldwide:<a href="https://cdn.it.bgi.com/source/global-prevention-and-control-of-hemoglobinopathies-eng2023.pdf" target="_blank">Download the Global Prevention and Control of Hemoglobinopathies 2023 Report </a>About BGI Genomics:BGI Genomics, 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 of 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.

Uncovering Thalassemia Diversity in Southern China through Next-Generation Sequencing | BGI Insight

<img src="https://cdn.it.bgi.com/source/southamerica800x600.png" alt="southamerica800x600.png" data-href="" style="">Despite being highly preventable, the Pan American Health Organization estimates cervical cancer kills 35,700 women annually in the Americas, and 80 percent of these cases are in Latin America and the Caribbean (LAC). The recently released BGI Genomics <a href="https://www.bgi.com/global/news/bgi-genomics-global-2023-state-of-cervical-cancer-awareness-report" target="">2023 Global State of Cervical Cancer Awareness Report</a> reveals potential awareness gaps that may contribute to this disproportionate distribution of cervical cancer cases in these regions.To offer greater insight into the steps needed to improve cervical cancer awareness in Latin America, our team interviewed Dr. Carolina Wiesner, Director of Colombia's National Cancer Institute, Dr. Osvaldo Artigalas, member of the Brazilian Society of Medical Genetics and Genomics and Dr. Deborah Laufer, Uruguayan gynecologist specialized in gynecological and pediatric endocrinology.Cost-effective intervention to prevent cervical cancerDr. Carolina Wiesner notes, "It is necessary to implement new technologies for prevention and early detection of cervical cancer in a cost-effective manner to help eliminate this cancer." In recent years, HPV DNA self-sampling tests became more widely available, and the prices dropped significantly, making it possible for <a href="https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2022.948471/full" target="_blank">twelve</a> LAC countries/territories to pilot the introduction of these technologies.<img src="https://cdn.it.bgi.com/source/2a.jpg" alt="2a.jpg" data-href="" style=""/>The benefits of detecting cervical cancer earlyThe Awareness Report indicates 68.6 percent (Uruguay) and 67.1 percent (Brazil) of vaccinated women had a screening test, lower than the global average of 82.1 percent. More needs to be done in these two countries as the existing vaccines do not protect against all high-risk HPV types and will have a limited impact on disease in unvaccinated women and those vaccinated at older ages. Dr. Osvaldo Artigalas says, "Early detection of cervical cancer brings many benefits: saving lives as survival rates are better and benefiting society with reduced treatment costs." <img src="https://cdn.it.bgi.com/source/4a.jpg" alt="4a.jpg" data-href="" style=""/>In Uruguay, 85.7% of respondents will choose the HPV DNA test over a pap smear upon learning about its higher accuracy. In response to this Awareness Report finding, Dr. Deborah Laufer highlights, "This response shows that if women receive clear and proper information about each of the tests and their scope, they are better placed to make more informed decisions."<img src="https://cdn.it.bgi.com/source/6a.png" alt="6a.png" data-href="" style=""/> About BGI Genomics and SENTIS HPV Tests BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.The CE-certified <a href="https://www.bgi.com/global/service/bgi-sentistm-hpv-test" target="">SENTIS&trade; HPV test</a> combines self-sampling technology and genotyping assay to detect 14 most important, "high-risk" types of HPV, including HPV -16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, 68 and 2 "low-risk" types of the virus, HPV -6, 11. HPV genotyping detection is based on Next Generation Sequencing (NGS) technology based on a large sample volume for each run, which decreases the testing cost for each individual. In 2021, the WHO recommended DNA testing as a <a href="https://www.who.int/europe/news/item/11-09-2021-who-recommends-dna-testing-as-a-first-choice-screening-method-for-cervical-cancer-prevention" target="">first-choice screening method</a> for cervical cancer prevention. MethodologyThe <a href="https://www.bgi.com/global/news/bgi-genomics-global-2023-state-of-cervical-cancer-awareness-report" target="">2023 Global State of Cervical Cancer Awareness Report</a> is based on an online survey of 1,878 female respondents from Brazil (315), the Chinese mainland (310), Saudi Arabia (312), Serbia (307), Thailand (319), and Uruguay (315).These respondents were based in their respective country or region when this survey was conducted in July 2023. Surveys were conducted in local languages. Respondents were aged between 21 to 45 years old. Momentive Global was commissioned to carry out this survey. &nbsp;

Cancel Cervical Cancer – In Conversation with Brazil, Colombia, and Uruguay Experts | BGI Insight

On August 11, 2023, an international scientific conference focusing on "Modern technologies for the diagnosis of congenital and hereditary pathologies" was held in the Republic of Uzbekistan, supported by the Ministry of Higher Education, Science and Innovation of the Republic of Uzbekistan, the Ministry of Health, and the leading precision medicine provider BGI Genomics. <img src="https://cdn.it.bgi.com/source/图片1940.jpg" alt="图片1940.jpg" data-href="" style="width: 413.00px;height: 275.68px;">(Left to right) Viktoria Viktorovna Tsai, Head of the Department of Prenatal and Neonatal Medicine, Genscreen Co., Ltd., Fediakov Michail Andreevich, Geneticist, Head of the Department of Genetics, Genscreen Co., Ltd., Nazokat Boburovna AshurmetovaThis conference welcomed esteemed international experts from Uzbekistan and abroad. Opening remarks were delivered by Deputy Minister of Higher Education, Science and Innovation Shakhlo Turdikulova and Deputy Minister of Health Elmira Bositkhonova, who highlighted the efforts carried out in Uzbekistan to implement advanced programs for diagnosing hereditary diseases, expanding newborn examination initiatives, and conducting screening for carriers of hereditary conditions.Experts shared their unique experiences in organizing large-scale prenatal diagnostics and advanced neonatal screening. Genscreen, for instance, presented outcomes and challenges from its pilot project on expanded neonatal screening for 48 orphan diseases, covering 14 regions in Uzbekistan. Cutting-edge genetic tests were discussed, especially whole exome and whole genome sequencing methods, for diagnosing extremely complex genetic diseases that were previously undetectable.Specialists from BGI Genomics shared expertise in conducting large-scale screening for hereditary diseases in China, imparting vital knowledge to doctors and healthcare professionals in Uzbekistan. This research is of particular significance for Uzbekistan due to the high occurrence of marriages between close relatives, a surge in infertility and miscarriage cases, and the advent of advanced assisted reproductive technologies like in vitro fertilization (IVF). The successful execution of such comprehensive events helps to enhance the knowledge and expertise of local doctors, while introducing the latest genetic technologies that aid in identifying the causes of newborn mortality, reducing the occurrence of genetic pathologies such as Down syndrome, Patau syndrome, phenylketonuria, spinal muscular atrophy (SMA), and others. About BGI GenomicsBGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. To learn more about the NIFTY® Test - the world's leading non-invasive prenatal test (NIPT), please see <a href="https://www.bgi.com/global/molecular-genetics/nifty-non-invasive-prenatal-testing/the-nifty-test-non-invasive-prenatal-testing/" target="">our website</a>. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.

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