# Clinical Biochemical Genetics * **Definition:** A branch of medicine that focuses on the diagnosis and management of genetic disorders through the analysis of biochemical markers, including metabolites and proteins, to understand the underlying genetic causes and to guide treatment strategies. * **Taxonomy:** Specialties / Clinical Biochemical Genetics ## News * Selected news on the topic of **Clinical Biochemical Genetics**, for healthcare technology leaders * 911 news items are in the system for this topic * Posts have been filtered for tech-related keywords | Date | Title | Source | | --- | --- | --- | | 5/19/2025 | [**Arineta's SpotLight Duo CT Scanner Receives FDA Clearance for Low-Dose Lung Cancer Screening**](https://hitconsultant.net/2025/05/19/fda-clearance-enables-dual-heart-lung-screening-in-single-image/) | [[HIT Consultant]] | | 4/9/2025 | [**M6P Therapeutics to Host Virtual KOL Event to Discuss the Lysosomal Storage Disorders ...**](https://finance.yahoo.com/news/m6p-therapeutics-host-virtual-kol-120000845.html) | [[Yahoo Finance]] | | 12/30/2024 | [**Precision Medicine Software Research Analysis Report 2024-2030: Increasing Adoption of Genomic Data Analysis Software Spurs Growth, Integration of Multi-Omics Data Strengthens the Business Case - ResearchAndMarkets.com**](http://www.businesswire.com/news/home/20241230952002/en/Precision-Medicine-Software-Research-Analysis-Report-2024-2030-Increasing-Adoption-of-Genomic-Data-Analysis-Software-Spurs-Growth-Integration-of-Multi-Omics-Data-Strengthens-the-Business-Case---ResearchAndMarkets.com/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[Business Wire]] | | 12/11/2024 | [**Anasens: Appointment of Pierre Fitzgibbon to the Board of Directors - Business Wire**](https://www.businesswire.com/news/home/20241211465784/en/Anasens-Appointment-of-Pierre-Fitzgibbon-to-the-Board-of-Directors) | [[Business Wire]] | | 12/11/2024 | [**Anasens: Appointment of Pierre Fitzgibbon to the Board of Directors**](https://www.businesswire.com/news/home/20241211465784/en/Anasens-Appointment-of-Pierre-Fitzgibbon-to-the-Board-of-Directors/) | [[Business Wire]] | | 12/10/2024 | [**ADLM welcomes Sabrina Reilly as chief membership and market development officer**](https://www.prnewswire.com/news-releases/adlm-welcomes-sabrina-reilly-as-chief-membership-and-market-development-officer-302328041.html) | [[PR Newswire]] | | 12/10/2024 | [**ADLM welcomes Sabrina Reilly as chief membership and market development officer**](https://www.morningstar.com/news/pr-newswire/20241210dc76719/adlm-welcomes-sabrina-reilly-as-chief-membership-and-market-development-officer) | [[Morningstar]] | | 11/26/2024 | [**In-vitro Diagnostics Market to Grow by USD 22.17 Billion (2024-2028), Rising Geriatric Population and Disease Prevalence, Report on AI-Driven Market Trends - Technavio**](https://www.prnewswire.com/news-releases/in-vitro-diagnostics-market-to-grow-by-usd-22-17-billion-2024-2028-rising-geriatric-population-and-disease-prevalence-report-on-ai-driven-market-trends---technavio-302315568.html) | [[PR Newswire]] | | 11/22/2024 | [**Barcelona launches world's first joint program on evolutionary medical genomics**](https://www.news-medical.net/news/20241122/Barcelona-launches-worlde28099s-first-joint-program-on-evolutionary-medical-genomics.aspx) | [[News Medical Net]] | | 11/15/2024 | [**DNA Synthesis Market to Reach USD 15.48 Billion by 2032 Driven by Demand for Genomics Research and Personalized Medicine**](https://finance.yahoo.com/news/dna-synthesis-market-reach-usd-140000784.html) | [[Yahoo Finance]] | | 11/11/2024 | [**Population Health Management Market to Grow by USD 22.55 Billion from 2024-2028 ...**](https://www.prnewswire.com/news-releases/population-health-management-market-to-grow-by-usd-22-55-billion-from-2024-2028--driven-by-rising-adoption-of-healthcare-it-report-with-ai-impact-on-trends---technavio-302300769.html) | [[PR Newswire]] | | 11/6/2024 | [**Insulin Delivery Innovator PharmaSens Appoints Robert Gabbay, MD and James Peterson ...**](https://www.prnewswire.com/news-releases/insulin-delivery-innovator-pharmasens-appoints-robert-gabbay-md-and-james-peterson-to-board-of-directors-302296887.html) | [[PR Newswire]] | | 11/4/2024 | [**Drug Discovery Technologies Global Research Report 2024: Market Revenue Data 2021-2023, 2024 Estimates and CAGR Projections Through 2029 - ResearchAndMarkets.com**](http://www.businesswire.com/news/home/20241104561152/en/Drug-Discovery-Technologies-Global-Research-Report-2024-Market-Revenue-Data-2021-2023-2024-Estimates-and-CAGR-Projections-Through-2029---ResearchAndMarkets.com/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 10/17/2024 | [**CDRH's Michelle Tarver lays out vision for leadership and bringing healthcare into the home**](https://www.fiercebiotech.com/medtech/cdrhs-michelle-tarver-lays-out-vision-leadership-and-bringing-healthcare-home) | [[FierceBiotech]] | | 9/12/2024 | [**Archimedic Appoints M. Alexander Shaw, PhD as Chief Executive Officer - Morningstar**](https://www.morningstar.com/news/business-wire/20240912017707/archimedic-appoints-m-alexander-shaw-phd-as-chief-executive-officer) | [[Morningstar]] | | 9/12/2024 | [**Archimedic Appoints M. Alexander Shaw, PhD as Chief Executive Officer**](http://www.businesswire.com/news/home/20240912017707/en/Archimedic-Appoints-M.-Alexander-Shaw-PhD-as-Chief-Executive-Officer/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 9/12/2024 | [**Archimedic Appoints M. Alexander Shaw, PhD as Chief Executive Officer - Yahoo Finance**](https://finance.yahoo.com/news/archimedic-appoints-m-alexander-shaw-140500305.html) | [[Yahoo Finance]] | | 9/10/2024 | [**QuidelOrtho Appoints Lee Bowman as Chief Human Resources Officer**](http://www.businesswire.com/news/home/20240910545042/en/QuidelOrtho-Appoints-Lee-Bowman-as-Chief-Human-Resources-Officer/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 9/10/2024 | [**QuidelOrtho Appoints Lee Bowman as Chief Human Resources Officer**](http://www.businesswire.com/news/home/20240910545042/en/QuidelOrtho-Appoints-Lee-Bowman-as-Chief-Human-Resources-Officer/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[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-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 7/25/2024 | [**Beckman Coulter's DxI 9000 Immunoassay Analyzer Honored at Premier, Inc.'s Annual ...**](https://www.prnewswire.com/news-releases/beckman-coulters-dxi-9000-immunoassay-analyzer-honored-at-premier-incs-annual-supplier-innovation-celebration-302206582.html) | [[PR Newswire]] | | 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]] | | 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]] | ## Specialty Overview (Some LLM-derived content — please confirm with above primary sources) ### Key Players - **BostonGene**: Provider of AI-driven molecular and immune profiling solutions, focusing on integrated diagnostics. - **Beckman Coulter Life Sciences**: A company focusing on laboratory automation and sustainability initiatives, enhancing workflows in clinical settings. - **Myriad Genetics**: A leader in genetic testing and precision medicine, focusing on hereditary cancer testing and risk assessment. - **Beckman Coulter Diagnostics**: A company that launched the DxC 500i Clinical Analyzer for satellite and independent laboratories. - **SOPHiA GENETICS**: A company specializing in data-driven medicine, particularly in genetic variant interpretation. - **GeneDx**: Launched GeneDx Discover, a data visualization tool for biopharmaceutical companies to access deidentified genetic data. - **Dante Genomics**: Introduced the GenAI Platform, Dante GenomeChat, to enhance clinical understanding of complex genomic data. - **Pacific Biosciences**: A company that provides advanced sequencing technology, partnering with healthcare institutions to improve diagnostics in reproductive health. - **ERS Genomics Limited**: Provider of CRISPR gene editing technology, facilitating research and therapeutic advancements. - **Genomics England**: An organization focused on genomic research and initiatives, particularly in the UK. - **Galatea Bio**: A company focused on enhancing biomedical research and precision medicine, particularly for underserved populations. - **Helix**: A company focused on integrating genomics into patient care through large-scale clinicogenomics datasets to enhance research on disease risk and drug response. - **Children's Hospital of Philadelphia**: Researchers identifying specific steps necessary for CRISPR to activate and perform gene editing. - **Illumina**: A prominent company in genomic profiling and sequencing technologies, collaborating with Myriad Genetics to enhance cancer diagnostics. - **Mayo Clinic**: Developing digital tools to integrate personalized medical data into electronic health records, including AI tools for summarizing genomic data. - **London Health Sciences Centre**: Utilizes advanced technology and AI to diagnose rare diseases and birth abnormalities. - **Genoks**: A Turkish genomics healthcare company that provides advanced DNA and RNA sequencing services and has partnered with Velsera to enhance cancer diagnostics. - **DNAnexus, Inc.**: A company collaborating with Galatea Bio to enhance biomedical research and precision medicine for underserved populations. ### Partnerships and Collaborations - **SOPHiA GENETICS and Genomenon**: An expanded partnership to improve genetic variant interpretation for cancers and rare diseases. - **Revvity and Genomics England**: An expansion of collaboration to screen newborns for rare genetic conditions using advanced laboratory capabilities. - **DNAnexus and Galatea Bio**: A strategic collaboration to enhance access to advanced genetic tools for underserved populations in Latin America. - **Pacific Biosciences and HiFi Solves Sub-Fertility Consortium**: Aims to enhance diagnosis and treatment of subfertility using advanced sequencing technology. - **Genoks and Velsera**: Collaboration to enhance cancer diagnostics in Turkey through advanced genomic analysis technologies. - **Color Health and OpenAI**: Collaborating to utilize AI for cancer genetic testing, aiming to create personalized care plans for patients. - **EvoMG Program**: A joint initiative by three research institutions in Barcelona to enhance understanding of disease mechanisms through evolutionary principles. - **Myriad Genetics and Flatiron Health**: Integration of MyRisk Hereditary Cancer Test into Flatiron's OncoEMR platform, streamlining the workflow for genetic testing. - **University of Texas Health Science Center and UC Berkeley**: Collaboration on advanced lipid nanoparticle-mRNA complexes for therapeutic delivery. - **Myriad Genetics and Illumina**: Updated agreement to report Genomic Instability Score (GIS) for all samples analyzed, enhancing cancer diagnostics. - **WPI-NanoLSI**: Collaborative efforts in developing highly sensitive biosensors for detecting biomarkers in urine. - **Helix and Health Systems**: Collaborates with health systems to sequence large patient populations, generating datasets for drug discovery and population health research. - **Inocras and Watchmaker Genomics**: Expanded partnership to enhance solutions for whole genome sequencing and bioinformatics. - **Roche and Bill & Melinda Gates Foundation**: Collaborating to develop a rapid point-of-care molecular tuberculosis test. - **Texas A&M AgriLife**: Research on gene expression and cellular processes that may enhance crop resilience and human disease understanding. - **Ruhr University**: Collaboration contributing to advancements in biosensor technology as part of the RESOLV excellence cluster. - **UdeM and ERS Genomics**: Non-exclusive license agreement for CRISPR technology, enabling new screening platforms for research. ### Innovations, Trends, and Initiatives - **Clinical Genomics Workspace**: Designed to support oncology and inherited disease specialists by overcoming barriers to NGS testing. - **Newborn Screening Programs**: Integration of genome sequencing into newborn screening to enhance early diagnosis and treatment of rare genetic disorders. - **Advancements in Genetic Testing**: Significantly contributing to personalized medicine by identifying specific genetic mutations associated with various cancers. - **GeneDx Discover**: A data visualization tool providing biopharmaceutical companies access to deidentified genetic data for drug development. - **Dante GenomeChat**: A platform that utilizes AI to provide personalized insights into patients' genetic data, enhancing clinical decision-making. - **DxC 500i Clinical Analyzer**: A new analyzer designed for low-volume laboratories, integrating clinical chemistry and immunoassay testing. - **Liquid Biopsies**: Revolutionizing early cancer detection through non-invasive methods to analyze biomarkers in bodily fluids. - **AI-Driven Diagnostics**: BostonGene's participation in the EFLM Strategic Conference highlights the trend towards integrated diagnostics. - **Personalized Nutrition**: Growing trend focusing on tailoring dietary recommendations based on individual health goals and genetic factors. - **EpiSign Technology**: Developed by Dr. Bekim Sadikovic, this technology measures a patient's epigenome to diagnose over 100 genetic diseases. - **AI in Genomics**: Mayo Clinic's AI tool aims to summarize genomic data within EHRs, facilitating easier test selection for clinicians. - **VarSome Clinical**: CE mark approval for this platform marks a significant milestone in clinical genomics, ensuring compliance with EU regulations. - **Companion Diagnostics Market Growth**: Projected growth driven by the rising incidence of cancer and the need for targeted therapies based on genetic profiles. - **STRIPE Initiative**: Aims to standardize pharmacogenomic practices and enhance clinical decision-making through stakeholder consensus. - **PWAS Hub**: A new tool utilizing machine learning to explore gene-disease connections across common diseases, enhancing personalized medicine. - **Point-of-Care Testing (POCT)**: Rapidly expanding market for POCT devices, enhancing accessibility and timely results in diagnostics. - **AI in Healthcare**: Increasing use of AI technologies in genetic testing and diagnostics, improving efficiency and accuracy in patient care. - **CRISPR/Cas9 Technology**: A groundbreaking gene editing tool that has transformed biomedical research and led to FDA-approved therapies. ### Challenges and Concerns - **Access to Genetic Testing**: Many breast cancer survivors eligible for genetic counseling and testing are not receiving it, highlighting gaps in clinical guidelines. - **Access to Precision Medicine**: The need for broader access to precision medicine tools and timely genetic testing results for effective patient care. - **Data Privacy Risks**: Concerns regarding the commodification of patient data in genetic testing, emphasizing the need for careful evaluation of practices. - **Regulatory Hurdles**: Challenges faced by the Fragile X Syndrome Genetic Testing market, including intense competition and the necessity for continuous innovation. - **Gene Editing Risks**: Concerns regarding the potential for unintended genome edits leading to harmful consequences, such as cancerous transformations. - **Dataset Availability**: A significant challenge in precision medicine is the lag in dataset availability compared to the introduction of new drugs. - **Health Equity**: Efforts are being made to address disparities in access to precision medicine tools for underserved populations. - **Precision in Gene Editing**: The need for accuracy in CRISPR applications to avoid unintended edits that could be harmful. - **Cost and Reimbursement Issues**: Emerging markets face challenges related to high costs and reimbursement for advanced diagnostic technologies. - **Regulatory Challenges**: The FDA is focusing on how to regulate AI-based diagnostic tests while ensuring patient safety. - **Cost of Long-Read Sequencing**: Despite its potential, long-read sequencing is currently more expensive than traditional methods, posing a barrier to widespread adoption. - **Regulatory Compliance**: With the full effect of IVDR, in-house tests and Research Use Only products must adhere to stringent requirements for patient safety. - **Access to Care Disparities**: Highlighting the alarming disparities in healthcare access and outcomes across different communities. - **High Failure Rates in Drug Discovery**: Despite advancements in technology, the failure rate in new medicine discovery remains high. - **FDA Collaboration Concerns**: Concerns over potential conflicts of interest in the FDA's collaboration with tech companies in health AI initiatives. - **Drug Development Inefficiencies**: The lengthy and costly drug development process, averaging $6.7 billion and 12 years, poses significant challenges. - **Integration of Technology in Healthcare**: The need for continuous advancements in technology to keep pace with evolving healthcare demands. - **Ethical Considerations in AI**: Importance of ensuring safety and efficacy before deploying AI applications in medical settings. - **Xylazine Drug of Abuse**: Emerging concerns regarding the long clearance time of xylazine in the human body, complicating overdose treatments. ## Related Topics [[Medical Biochemical Genetics]]; [[Biochemical Genetics]]; [[Clinical Genetics]]; [[Clinical Genomics]]; [[Laboratory Genetics]]