# Clinical Cytogenetics * **Definition:** A branch of genetics that involves the study of chromosomes and their structure, function, and behavior in relation to human health, particularly in diagnosing and managing genetic disorders and cancers through techniques such as karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis. * **Taxonomy:** Specialties / Clinical Cytogenetics ## News * Selected news on the topic of **Clinical Cytogenetics**, for healthcare technology leaders * 282 news items are in the system for this topic * Posts have been filtered for tech-related keywords | Date | Title | Source | | --- | --- | --- | | 5/12/2025 | [**Prof. Mike Chan's Precision Medicine Vision Validated by Landmark Human Cytology Study Mapping Over 400 Distinct Cell Types - with Special Focus on the Brain**](https://www.prnewswire.com/news-releases/prof-mike-chans-precision-medicine-vision-validated-by-landmark-human-cytology-study-mapping-over-400-distinct-cell-types--with-special-focus-on-the-brain-302452191.html) | [[PR Newswire]] | | 5/7/2025 | [**HeartSciences Adds Prominent Key Advisors to its Scientific Advisory Board**](https://finance.yahoo.com/news/heartsciences-adds-prominent-key-advisors-130000887.html) | [[Yahoo Finance]] | | 3/28/2025 | [**Cytogenetics Market Projected to Reach $5.5 Billion by 2031, Growing at a CAGR of 9.6rom 2024 --Exclusive Report by Meticulous Research®**](https://www.prnewswire.com/news-releases/cytogenetics-market-projected-to-reach-5-5-billion-by-2031--growing-at-a-cagr-of-9-6-from-2024-exclusive-report-by-meticulous-research-302414363.html) | [[PR Newswire]] | | 3/28/2025 | [**Cytogenetics Market Projected to Reach $5.5 Billion by 2031, Growing at a CAGR of 9.6 ...**](https://finance.yahoo.com/news/cytogenetics-market-projected-reach-5-135000505.html) | [[Yahoo Finance]] | | 2/7/2025 | [**AI-based technology accelerates discovery of new tuberculosis drug candidates**](https://www.news-medical.net/news/20250207/AI-based-technology-accelerates-discovery-of-new-tuberculosis-drug-candidates.aspx) | [[News Medical Net]] | | 2/5/2025 | [**Cytogenetics Market to Reach $10.6 billion, Globally, by 2035 at 11.7AGR: Allied Market Research**](https://www.globenewswire.com/news-release/2025/02/05/3021264/0/en/Cytogenetics-Market-to-Reach-10-6-billion-Globally-by-2035-at-11-7-CAGR-Allied-Market-Research.html) | [[Globe Newswire]] | | 1/23/2025 | [**$1.81 Bn Optical Genome Mapping Market Global Forecasts 2024-2034 by Product and ...**](https://finance.yahoo.com/news/1-81-bn-optical-genome-092800755.html) | [[Yahoo Finance]] | | 1/9/2025 | [**Active Implantable Medical Devices Market Expected To Reach USD 33.76 Billion by 2032 with a CAGR of 8.20 Introspective Market Research**](https://www.globenewswire.com/news-release/2025/01/09/3006958/0/en/Active-Implantable-Medical-Devices-Market-Expected-To-Reach-USD-33-76-Billion-by-2032-with-a-CAGR-of-8-20-Introspective-Market-Research.html) | [[Globe Newswire]] | | 12/18/2024 | [**DocGo and SHL Telemedicine Partner to Revolutionize Patient Access to Cardiovascular Care**](http://www.businesswire.com/news/home/20241218295511/en/DocGo-and-SHL-Telemedicine-Partner-to-Revolutionize-Patient-Access-to-Cardiovascular-Care/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[Business Wire]] | | 12/18/2024 | [**DocGo and SHL Telemedicine Partner to Revolutionize Patient Access to Cardiovascular Care**](http://www.businesswire.com/news/home/20241218295511/en/DocGo-and-SHL-Telemedicine-Partner-to-Revolutionize-Patient-Access-to-Cardiovascular-Care/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 11/21/2024 | [**AI ethics in medical research: the 2024 Declaration of Helsinki - The Lancet**](https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(24)02376-6/fulltext) | [[The Lancet]] | | 11/19/2024 | [**GeneDx Fuels Rare Disease Drug Discovery with Launch of GeneDx Discover**](http://www.businesswire.com/news/home/20241119507394/en/GeneDx-Fuels-Rare-Disease-Drug-Discovery-with-Launch-of-GeneDx-Discover/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 11/12/2024 | [**Ikonisys Group Renews Agreement as European Authorized Representative and ... - Yahoo Finance**](https://finance.yahoo.com/news/ikonisys-group-renews-agreement-european-174800197.html) | [[Yahoo Finance]] | | 10/30/2024 | [**How Mayo Clinic is embedding genomics data into the EHR**](https://www.beckershospitalreview.com/ehrs/how-mayo-clinic-is-embedding-genomics-data-into-the-ehr.html) | [[Beckers Hospital Review]] | | 10/7/2024 | [**Velsera and Diagnostics Longwood Partner to Revolutionize Access to Precision Genomics for Patients in Spain and Portugal**](https://finance.yahoo.com/news/velsera-diagnostics-longwood-partner-revolutionize-124600826.html) | [[Yahoo Finance]] | | 9/23/2024 | [**AHEAD Unveils Panel-Agnostic Automated AML Diagnosis Solution - PR Newswire**](https://www.prnewswire.com/news-releases/ahead-unveils-panel-agnostic-automated-aml-diagnosis-solution-302249357.html) | [[PR Newswire]] | | 8/14/2024 | [**DNAnexus and Galatea Bio Launch Collaboration to Enhance Precision Medicine ... - Yahoo Finance**](https://finance.yahoo.com/news/dnanexus-galatea-bio-launch-collaboration-120300380.html) | [[Yahoo Finance]] | | 8/14/2024 | [**DNAnexus and Galatea Bio Launch Collaboration to Enhance Precision Medicine with Advanced Genetic Tools for Underserved Populations**](http://www.businesswire.com/news/home/20240814153466/en/DNAnexus-and-Galatea-Bio-Launch-Collaboration-to-Enhance-Precision-Medicine-with-Advanced-Genetic-Tools-for-Underserved-Populations/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 8/14/2024 | [**DNAnexus and Galatea Bio Launch Collaboration to Enhance Precision Medicine with Advanced Genetic Tools for Underserved Populations**](http://www.businesswire.com/news/home/20240814153466/en/DNAnexus-and-Galatea-Bio-Launch-Collaboration-to-Enhance-Precision-Medicine-with-Advanced-Genetic-Tools-for-Underserved-Populations/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[Business Wire]] | | 7/24/2024 | [**Saphetor SA receives IVDR Certification for clinical diagnosis support NGS data analysis platform, VarSome Clinical, ensuring enhanced safety and performance standards**](http://www.businesswire.com/news/home/20240724536462/en/Saphetor-SA-receives-IVDR-Certification-for-clinical-diagnosis-support-NGS-data-analysis-platform-VarSome-Clinical-ensuring-enhanced-safety-and-performance-standards/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 7/18/2024 | [**Texas A&M Health Teams With BurstIQ to Improve Genomic Research Data Governance**](https://www.pharmexec.com/view/texas-a-m-health-burstiq-genomic-data-governance) | [[PharmExec]] | | 6/28/2024 | [**Genoks and Velsera Forge Strategic Partnership to Revolutionize Cancer Diagnostics in Turkey**](http://www.businesswire.com/news/home/20240628892797/en/Genoks-and-Velsera-Forge-Strategic-Partnership-to-Revolutionize-Cancer-Diagnostics-in-Turkey/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 6/28/2024 | [**Genoks and Velsera Forge Strategic Partnership to Revolutionize Cancer Diagnostics in Turkey**](https://finance.yahoo.com/news/genoks-velsera-forge-strategic-partnership-050400903.html) | [[Yahoo Finance]] | | 6/28/2024 | [**Genoks and Velsera Forge Strategic Partnership to Revolutionize Cancer Diagnostics in Turkey**](http://www.businesswire.com/news/home/20240628892797/en/Genoks-and-Velsera-Forge-Strategic-Partnership-to-Revolutionize-Cancer-Diagnostics-in-Turkey/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[Business Wire]] | | 10/5/2022 | [**Building an innovation ecosystem for children's health**](https://www.nature.com/articles/d42473-022-00261-4) | [[Nature]] | ## Specialty Overview (Some LLM-derived content — please confirm with above primary sources) ### Key Players - **ClinGen**: The Clinical Genome Resource, which curates data on genes relevant to genetic diseases and aims to standardize genomic information assessment. - **Cytek Biosciences, Inc.**: Offers Full Spectrum Profiling technology for advanced flow cytometry applications. - **GeneDx**: Provides genetic testing and data visualization tools to enhance drug development processes. - **Bionano Genomics, Inc.**: Develops optical genome mapping solutions, enhancing the analysis of genetic variants in various cancers. - **Bionano Genomics**: A company that enhances products for genome analysis, particularly in structural variant detection. - **Nabsys 2.0 LLC**: Specializes in electronic genome mapping platforms for high-resolution structural variant analysis. - **Genomics England**: A leader in genomic research and initiatives in the UK, focusing on enhancing healthcare through genetic testing and analysis. - **Helix**: A company integrating genomics into patient care, focusing on large-scale clinicogenomics datasets for disease risk and drug response research. - **Genoks**: A Turkish genomics healthcare company specializing in cancer diagnostics and treatment through advanced sequencing services. - **Hitachi High-Tech Corporation**: A major player in molecular research and diagnostics, focusing on advanced human genome analysis solutions. - **BostonGene**: A biotechnology company focused on advancing precision medicine through AI-driven molecular profiling. - **BillionToOne**: A molecular diagnostics company known for its innovative technologies in genetic testing and diagnostics. - **DNAnexus**: A cloud-based platform that provides advanced genomic data management and analysis tools for biomedical research. - **SOPHiA GENETICS**: A company that provides data-driven medicine solutions, focusing on genetic variant interpretation for cancers and rare diseases. - **Galatea Bio**: A company focused on precision medicine, particularly for underserved populations, utilizing specialized data for genetic research. - **Saphetor SA**: A company that offers bioinformatics solutions for genomic data interpretation, recently receiving CE mark approval for its VarSome Clinical platform. - **Key Player**: Genomic Medicine Sweden, Definition: A research organization involved in studies related to whole-genome sequencing and its applications in clinical settings. - **AHEAD Medicine Corporation**: Develops AI-driven products for clinical data analysis, including the Cyto-Copilot for diagnosing AML. ### Partnerships and Collaborations - **BostonGene and Sylvester Comprehensive Cancer Center**: Collaborating on research to advance precision medicine for multiple myeloma patients, comparing traditional cytogenetic methods with next-generation sequencing. - **Genoks and Velsera**: Collaborating to enhance cancer diagnostics in Turkey through advanced genomic analysis technologies. - **GeneDx and biopharmaceutical companies**: Collaborating to improve patient access to genetic testing and expedite treatment development for rare diseases. - **Hitachi High-Tech and Nabsys**: Collaborated since 2019 to develop instrumentation and cloud-based analytics for genomic structural variations. - **DNAnexus and Galatea Bio**: A strategic collaboration aimed at enhancing biomedical research and precision medicine for Latin American populations, leveraging cloud capabilities for improved access to genetic tools. - **Revvity and Genomics England**: Expanding collaboration to enhance genomic initiatives in the UK, focusing on early detection of rare genetic conditions in newborns. - **Texas A&M Health and BurstIQ**: A partnership to utilize BurstIQ's LifeGraph platform for enhancing genomic data governance in clinicogenomics registry programs. - **Dante Genomics and AWS**: Unveiling the GenAI Platform, Dante GenomeChat, to enhance clinical understanding of complex genomic data. - **SOPHiA GENETICS and Genomenon**: An expanded partnership to enhance genetic variant interpretation through the integration of Genomenon's Mastermind platform into SOPHiA's tools. - **Inocras and Watchmaker Genomics**: These companies have expanded their partnership to enhance solutions for whole genome sequencing and bioinformatics, aiming to accelerate insights for patients and researchers. - **Semaphore Solutions and BillionToOne**: Expanding partnership to implement a Laboratory Information Management System (LIMS) for increased sample throughput in oncology laboratories. - **DocGo and SHL Telemedicine**: Expanded partnership to integrate SmartHeart ECG devices into mobile health units for improved cardiovascular diagnostics. - **Metropolis Healthcare and DY Patil University**: Partnered to enhance practical skills of healthcare professionals through advanced medical training. ### Innovations, Trends, and Initiatives - **Molecular Cytogenetics Market Growth**: Projected to grow from USD 3.4 billion in 2024 to USD 8.8 billion by 2034, driven by advancements in technology and personalized treatment. - **AI in Cytogenetics**: Increasing applications of AI in hematology diagnostics, enhancing the accuracy and efficiency of tests. - **Cyto-Copilot**: An AI-driven analysis tool for diagnosing AML, streamlining flow cytometry data analysis. - **Comprehensive Genomic Profiling (CGP)**: A study demonstrating that CGP panels significantly direct patients to advanced precision therapies, enhancing survival rates. - **Fluorescence In Situ Hybridization (FISH)**: The rising adoption of FISH technology is a major trend contributing to the expansion of the molecular cytogenetics market, aiding in the identification of genetic anomalies. - **Optical Genome Mapping (OGM)**: Emerging as a superior technique for analyzing structural variants in tumors, surpassing traditional cytogenetic methods. - **Long-read sequencing**: A technology that allows for deeper insights into complex chromosomal abnormalities, potentially leading to better treatments for rare diseases. - **SJPedPanel**: Developed by St. Jude Children's Research Hospital, this genetic panel can diagnose over 90% of pediatric cancer patients by sequencing just 0.15% of the human genome, significantly improving performance compared to existing cancer gene panels. - **Whole Genome Sequencing (WGS)**: As costs decrease, WGS is anticipated to become the standard diagnostic method for acute leukemias, enhancing treatment decisions. - **VarSome Clinical platform**: A platform that automates the discovery and interpretation of Next Generation Sequencing (NGS) data, recently CE marked for compliance with EU regulations. - **AI tools in EHR**: Mayo Clinic is developing AI tools to summarize genomic data within electronic health records, facilitating easier test selection for clinicians. - **Dante GenomeChat**: A first-in-class GenAI platform designed to enhance clinical understanding of genomic data, facilitating better patient interactions. - **EpiSign Technology**: Developed by researchers at London Health Sciences Centre, this AI-driven blood testing technology diagnoses over 100 genetic diseases, marking a significant advancement in genetic testing. - **NyuWa VNTR Polymorphism Map**: A global genetic map developed to analyze variable number tandem repeats (VNTRs), providing insights into gene regulation and disease susceptibility. - **AI in Biotechnology**: The integration of AI technologies is transforming research and development in genomics and diagnostics, enhancing data analysis and outcome prediction. - **Nutrigenomics Market Growth**: Projected to grow significantly due to rising awareness of genetics in nutrition and personalized health solutions. - **Laboratory Information Management System (LIMS)**: Semaphore's Labbit is being implemented in oncology labs to handle increased sample throughput and improve efficiency. ### Challenges and Concerns - **Regulatory Complexities**: Regulatory complexities across different regions pose challenges for the implementation and standardization of cytogenetic testing. - **High Costs**: The cytogenetics market faces challenges such as high costs of advanced genetic testing, which can limit accessibility and adoption. - **Shortage of Skilled Professionals**: There is a shortage of skilled professionals in the field, which can hinder the growth and efficiency of cytogenetic services. - **Regulatory compliance**: The increasing importance of adhering to stringent regulations for genomic testing and data management in clinical settings. - **Data integration in healthcare**: The need for effective integration of genomic data into electronic health records to support clinical decision-making. - **Data Availability in Precision Medicine**: The lag in dataset availability compared to new drug introductions poses challenges for precision medicine, particularly outside oncology. - **Shortage of Pathologists**: An increasing demand for pathology services is not met by the current supply of trained professionals. - **High Costs of Technology**: The high costs associated with advanced diagnostic technologies pose a barrier to widespread adoption. - **Lack of Knowledge**: There is a significant gap in knowledge regarding new diagnostic technologies among healthcare professionals. - **Trust in Technology**: The integration of automated processes in labs must enhance reliability and help users understand failure points to be effective. - **Cost of long-read sequencing**: Despite its advantages, long-read sequencing remains more expensive than traditional methods, posing a barrier to widespread adoption. - **Data Privacy**: Concerns regarding data privacy and regulatory hurdles in the integration of AI with biotechnology. - **High Failure Rate in Drug Discovery**: Despite advancements in lab automation, the high failure rate in new medicine discovery remains a significant concern. ## Related Topics [[Clinical Genetics]]; [[Clinical Genomics]]