# Medical Genetics * **Definition:** A field of medicine that involves the diagnosis and management of hereditary disorders. * **Taxonomy:** Specialties / Medical Genetics ## News * Selected news on the topic of **Medical Genetics**, for healthcare technology leaders * 5K news items are in the system for this topic * Posts have been filtered for tech-related keywords | Date | Title | Source | | --- | --- | --- | | 5/19/2025 | [**STAT+: Regeneron to buy 23andMe out of bankruptcy for $256 million**](https://www.statnews.com/2025/05/19/23andme-regeneron-bankruptcy-genetic-testing-patient-data/?utm_campaign=rss) | [[STAT]] | | 3/17/2025 | [**Acclaimed Geneticist Dr. Mira B. Irons of Boston Children's Hospital Begins Presidency with the American College of Medical Genetics and Genomics (ACMG)**](https://www.prnewswire.com/news-releases/acclaimed-geneticist-dr-mira-b-irons-of-boston-childrens-hospital-begins-presidency-with-the-american-college-of-medical-genetics-and-genomics-acmg-302397138.html) | [[PR Newswire]] | | 1/30/2025 | [**The Seventh Annual Medical Genetics Awareness Week Will Be Celebrated March 18-21, 2025**](https://www.prnewswire.com/news-releases/the-seventh-annual-medical-genetics-awareness-week-will-be-celebrated-march-18-21-2025-the-joy-of-working-in-medical-genetics-302363503.html) | [[PR Newswire]] | | 1/29/2025 | [**The Seventh Annual Medical Genetics Awareness Week Will Be Celebrated March 18-21, 2025: The Joy of Working in Medical Genetics**](https://finance.yahoo.com/news/seventh-annual-medical-genetics-awareness-130000282.html) | [[Yahoo Finance]] | | 12/31/2024 | [**Precision Medicine Software Market Focused Insights 2024-2029, with Key Player Profiles of ...**](https://www.businesswire.com/news/home/20241231013633/en/Precision-Medicine-Software-Market-Focused-Insights-2024-2029-with-Key-Player-Profiles-of-Syapse-AccessDX-Laboratory-Fabric-Genomics-Foundation-Medicine-Intel-and-IBM---ResearchAndMarkets.com) | [[Business Wire]] | | 12/31/2024 | [**Precision Medicine Software Market Focused Insights 2024-2029, with Key Player Profiles of Syapse, AccessDX Laboratory, Fabric Genomics, Foundation Medicine, Intel and IBM - ResearchAndMarkets.com**](http://www.businesswire.com/news/home/20241231013633/en/Precision-Medicine-Software-Market-Focused-Insights-2024-2029-with-Key-Player-Profiles-of-Syapse-AccessDX-Laboratory-Fabric-Genomics-Foundation-Medicine-Intel-and-IBM---ResearchAndMarkets.com/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[Business Wire]] | | 12/31/2024 | [**Precision Medicine Software Market Focused Insights 2024-2029, with Key Player Profiles of Syapse, AccessDX Laboratory, Fabric Genomics, Foundation Medicine, Intel and IBM - ResearchAndMarkets.com**](http://www.businesswire.com/news/home/20241231013633/en/Precision-Medicine-Software-Market-Focused-Insights-2024-2029-with-Key-Player-Profiles-of-Syapse-AccessDX-Laboratory-Fabric-Genomics-Foundation-Medicine-Intel-and-IBM---ResearchAndMarkets.com/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 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]] | | 11/26/2024 | [**Mount Sinai Center to Combine AI, Data Science, Genomics - Healthcare Innovation**](https://www.hcinnovationgroup.com/analytics-ai/artifical-intelligence-machine-learning/news/55246083/mount-sinai-center-to-combine-ai-data-science-genomics) | [[Healthcare Innovation]] | | 11/25/2024 | [**Mount Sinai Health announces new Center for AI and Human Health - Healthcare IT News**](https://www.healthcareitnews.com/news/mount-sinai-health-announces-new-center-ai-and-human-health) | [[Healthcare IT News]] | | 11/25/2024 | [**Mount Sinai Opens the Hamilton and Amabel James Center for Artificial Intelligence and ...**](https://markets.businessinsider.com/news/stocks/mount-sinai-opens-the-hamilton-and-amabel-james-center-for-artificial-intelligence-and-human-health-to-transform-health-care-by-spearheading-the-ai-revolution-1034062543) | [[Business Insider Markets]] | | 11/25/2024 | [**Digi-Tech Pharma & AI Conference 2025: AI and Genomics Take Center Stage (London ...**](https://www.marketwatch.com/press-release/digi-tech-pharma-ai-conference-2025-ai-and-genomics-take-center-stage-london-united-kingdom-may-28-29-2025-researchandmarkets-com-2a20b074) | [[MarketWatch]] | | 11/14/2024 | [**Bumrungrad International Hospital Partners with Golden Helix to Advance Genomics for Cancer and Hereditary Disease Initiatives**](https://www.prnewswire.com/news-releases/bumrungrad-international-hospital-partners-with-golden-helix-to-advance-genomics-for-cancer-and-hereditary-disease-initiatives-302304751.html) | [[PR Newswire]] | | 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]] | | 11/8/2024 | [**AI-driven precision healthcare is here - what you need to know**](https://www.healthcareitnews.com/news/ai-driven-precision-healthcare-here-what-you-need-know) | [[Healthcare IT News]] | | 10/8/2024 | [**SEQSTER CEO Ardy Arianpour Named to PharmaVoice 100 for Innovation in Life Sciences ...**](https://www.businesswire.com/news/home/20241008712158/en/SEQSTER-CEO-Ardy-Arianpour-Named-to-PharmaVoice-100-for-Innovation-in-Life-Sciences-for-a-Second-Consecutive-Year) | [[Business Wire]] | | 10/8/2024 | [**SEQSTER CEO Ardy Arianpour Named to PharmaVoice 100 for Innovation in Life Sciences for a Second Consecutive Year**](http://www.businesswire.com/news/home/20241008712158/en/SEQSTER-CEO-Ardy-Arianpour-Named-to-PharmaVoice-100-for-Innovation-in-Life-Sciences-for-a-Second-Consecutive-Year/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 10/8/2024 | [**SEQSTER CEO Ardy Arianpour Named to PharmaVoice 100 for Innovation in Life Sciences for a Second Consecutive Year**](http://www.businesswire.com/news/home/20241008712158/en/SEQSTER-CEO-Ardy-Arianpour-Named-to-PharmaVoice-100-for-Innovation-in-Life-Sciences-for-a-Second-Consecutive-Year/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[Business Wire]] | | 10/8/2024 | [**SEQSTER CEO Ardy Arianpour Named to PharmaVoice 100 for Innovation in Life Sciences ...**](https://www.morningstar.com/news/business-wire/20241008712158/seqster-ceo-ardy-arianpour-named-to-pharmavoice-100-for-innovation-in-life-sciences-for-a-second-consecutive-year) | [[Morningstar]] | | 10/7/2024 | [**SEQSTER CEO Ardy Arianpour Named to PharmaVoice 100 for Innovation in Life Sciences for a Second Consecutive Year**](https://www.businesswire.com/news/home/20241008712158/en/) | [[Business Wire]] | | 10/4/2024 | [**Hyper-Personalized Medicine Market Research 2024: Size, Trends, Opportunities and Forecast 2020-2024 & 2025-2030 - ResearchAndMarkets.com**](http://www.businesswire.com/news/home/20241004930872/en/Hyper-Personalized-Medicine-Market-Research-2024-Size-Trends-Opportunities-and-Forecast-2020-2024-2025-2030---ResearchAndMarkets.com/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 9/17/2024 | [**Labcorp Stock Gains From Its Latest Acquisition of BioReference Health**](https://finance.yahoo.com/news/labcorp-stock-gains-latest-acquisition-161500335.html) | [[Yahoo Finance]] | | 9/10/2024 | [**LH Stock Expected to Gain From the Ballad Health Acquisition Deal**](https://finance.yahoo.com/news/lh-stock-expected-gain-ballad-122400434.html) | [[Yahoo Finance]] | | 7/30/2024 | [**Strategies for Medtech Startup Success in Europe**](https://www.medicaltechoutlook.com/news/strategies-for-medtech-startup-success-in-europe-nwid-3580.html) | medicaltechoutlook.com | | 7/22/2024 | [**Robert T. Braithwaite, Channing Hamlet and Daniel A. Platt Share Insights on ... - Los Angeles Times**](https://www.latimes.com/business-insights/story/2024-07-22/robert-t-braithwaite-channing-hamlet-and-daniel-a-platt-share-insights-on-the-healthcare-biotech-and-life-sciences-landscape-in-2024) | [[LA Times]] | ## Specialty Overview (Some LLM-derived content — please confirm with above primary sources) ### Key Players - **ACMG**: The American College of Medical Genetics and Genomics, which aims to advance medical genetics through strategic planning and collaboration. - **Genome Medical**: Enhancing its ability to identify clinical trial patients for ultra-rare diseases using specially formatted clinical-grade data. - **ClinGen**: A global consortium curating genomic data relevant to genetic diseases, aiming to standardize genomic information for medical practice. - **Yale School of Medicine**: A medical school receiving funding to improve genetic testing and diagnosis for underserved patients. - **Myriad Genetics**: Focusing on innovation in oncology, women's health, and pharmacogenomics, with significant investments in labs and digital capabilities. - **Labcorp**: A global leader in laboratory services, enhancing genetic testing solutions for oncology and rare diseases through acquisitions and partnerships. - **Epic and GeneDx**: Collaborating to integrate rapid whole genome sequencing technology into Epic's EHR system for improved genomic insights in pediatric and neonatal care. - **Bumrungrad International Hospital**: A certified Genomic Medicine Provider in Thailand, enhancing genomics initiatives for cancer and hereditary disease diagnostics. - **Genomenon**: A company that curates evidence for ACMG secondary findings to enhance genetic variant interpretation. - **Cofactor Genomics**: Focuses on bridging the precision medicine gap by decoding RNA and providing advanced insights into health and disease. - **Principle Health Systems**: Acquired Telos PGX to enhance personalized medication solutions through advanced pharmacogenetic testing. - **Golden Helix**: Provides bioinformatics solutions that streamline genomic data analysis, aiding institutions in interpreting complex data sets. - **GenomOncology**: A company focused on genomic reporting and variant classification, partnering with Genomenon to enhance their capabilities. - **King Faisal Specialist Hospital & Research Centre**: Leading advancements in genomics and biotechnology in Saudi Arabia. - **Cleveland Clinic**: Collaborating with IBM to advance medical research in genomics and precision medicine. - **Dr. Anmol Kapoor**: An expert in precision medicine and AI, emphasizing the transformative potential of AI-driven genomic analysis. - **Dr. Howard McLeod**: A global thought leader in precision medicine and oncology, appointed to Cofactor Genomics' Advisory Board, bringing over 25 years of experience in the biopharmaceutical sector. - **University Hospital of Münster**: A medical institution collaborating with PacBio to advance research in male infertility and rare diseases. - **Mount Sinai Health System**: A healthcare provider establishing an AI research center to integrate AI with genomics and enhance healthcare delivery. ### Partnerships and Collaborations - **GenomOncology and Genomenon**: Strategic partnership to enhance germline variant classification and genomic reporting. - **Yale School of Medicine and NIH**: Partnership to establish the Yale Diagnostic Center of Excellence for improving genetic testing. - **Labcorp and Invitae**: A partnership to leverage genetic insights for improved patient care and expand specialty testing capabilities. - **Myriad Genetics and GSK/QIAGEN**: Strategic partnerships enhancing capabilities in HRD diagnostic testing. - **Epic and GeneDx**: Integrating rapid whole genome sequencing technology into Epic's EHR system. - **Bumrungrad International Hospital and Golden Helix**: A multiyear agreement to integrate genomic technology into clinical workflows for improved precision medicine capabilities. - **Cleveland Clinic and IBM**: A 10-year collaboration focusing on genomics and precision medicine. - **Cofactor Genomics and Dr. Howard McLeod**: Collaboration to implement the Medicare-approved OncoPrism test in partnered healthcare systems. - **Texas A&M Health and BurstIQ**: Utilizing BurstIQ's LifeGraph platform to enhance genomic data governance. - **PacBio and University Hospital of Münster**: Collaboration to utilize the Revio HiFi sequencing system for research in male infertility and rare diseases. - **OneCell Diagnostics**: Has strategic partnerships with leading institutions like Harvard Medical School and Stanford University to enhance its cancer diagnostic capabilities. - **MEDIPAL HOLDINGS CORPORATION and JCR Pharmaceuticals**: Collaboration to initiate clinical trials for JR-446, targeting MPS IIIB. - **Labcorp and Ballad Health**: A strategic collaboration to enhance laboratory services in the Appalachian Highlands. - **Mount Sinai Health System**: Opened a center for AI and human health to enhance healthcare delivery through innovative AI tools and technologies. - **CareDx**: Plans to unveil its long-term growth strategy during an Investor Day, focusing on integrating AI and data science into healthcare solutions. - **Avant Technologies and Ainnova Tech**: Joint venture to commercialize AI technology for early disease detection. - **Washington University School of Medicine and BJC Health System**: Launched a joint Center for Health AI to improve healthcare efficiency using AI technologies. - **Washington University and BJC Health System**: Established a joint Center for Health AI to enhance healthcare efficiency. ### Innovations, Trends, and Initiatives - **ClinGen's Global Consortium**: Efforts to curate genomic data on over 2,700 genes relevant to genetic diseases, enhancing genomic interpretation. - **Hyper-Personalized Medicine**: An approach tailoring treatments based on genetic makeup, environment, lifestyle, and digital health data, driven by advancements in genomics and data analytics. - **Pharmacogenetic Testing**: Increasing adoption in healthcare to optimize medication decisions and improve patient outcomes. - **AI in Genomics**: AI-driven genomic analysis is transforming personalized healthcare, with applications in cancer treatment and drug development. - **GeneDx Discover**: A data visualization tool providing biopharmaceutical companies access to deidentified genetic data to enhance drug development. - **Next-Generation Sequencing (NGS)**: The NGS services market is projected to grow significantly, driven by advancements in precision medicine and genomics. - **Microbiome Diagnostics**: Growing market driven by innovations in personalized medicine and chronic disease management. - **Whole Genome and Exome Sequencing Market**: Projected growth from $1.87 billion in 2023 to $7.46 billion by 2033, driven by demand for personalized medicine. - **GenomeDE Modellvorhaben**: A project in Germany aimed at integrating genomic medicine into standard patient care, supported by the Revio system. - **DPYD Genotyping Recommendations**: AMP's consensus recommendations for standardizing clinical DPYD genotyping assays. - **Yale's Undiagnosed Diseases Network**: A multi-tiered approach to diagnose rare diseases through medical record reviews, telemedicine, and genetic testing. - **Hamilton and Amabel James Center**: Mount Sinai's center integrating AI with genomics to enhance healthcare delivery. - **Generative AI**: Transforming drug discovery, supporting clinical trials, and enhancing patient care through advanced machine learning models. - **Multiomics Market Growth**: Driven by advancements in omics technology and the demand for personalized medicine, the multiomics market is expanding, particularly in drug discovery and development. - **AI in Healthcare**: The integration of AI technologies is revolutionizing healthcare by enhancing diagnosis, care planning, and treatment, particularly in genomics and precision medicine. - **Unlock Behind the Seizure Program**: Invitae's initiative to provide affordable genetic testing for pediatric epilepsy patients. - **AI in Medical Imaging**: Improving diagnostic accuracy and efficiency through enhanced imaging technologies. ### Challenges and Concerns - **Data Privacy and Security**: Concerns regarding patient data privacy and informed consent in genetic testing and precision medicine. - **Access to Genetic Testing**: Only 5% of known rare diseases have FDA-approved treatments, highlighting the need for accurate diagnoses to facilitate effective therapies. - **Underrepresentation in Genomic Research**: African populations are underrepresented in genomic studies, hindering precision medicine development tailored to diverse genetic backgrounds. - **Data Fragmentation**: Hinders advancements in precision medicine by obstructing comprehensive understanding of individual health journeys. - **Market Growth Barriers**: Challenges such as data privacy and security issues could hinder the growth of the precision medicine market despite rising demand. - **Ethical and Regulatory Challenges**: Navigating ethical concerns and regulatory frameworks is crucial as AI-powered precision medicine becomes more prevalent. - **Implementation Costs**: High costs and interoperability issues hinder the widespread adoption of precision medicine software, especially in smaller institutions. - **Regulatory Compliance**: Ensuring compliance with standards while promoting responsible data sharing among clinicians and researchers. - **Adoption of AI in Life Sciences**: Slow adoption due to mistrust of technology vendors, regulatory concerns, and the industry's heavily regulated nature. - **Regulatory and Ethical Requirements**: Navigating complex regulatory landscapes while ensuring patient privacy poses significant challenges for healthcare organizations. - **Ethical Implications of Data Use**: Debates on the ethical implications of monetizing patient data and the complexities of consent. - **Ethical Considerations**: Addressing ethical implications of AI in healthcare, including patient consent and data usage. - **Regulatory Complexities**: Navigating complex regulations in the healthcare sector, particularly for AI technologies. - **Bias in AI Models**: Potential biases in AI applications could exacerbate existing prejudices against disadvantaged groups in healthcare. - **Fragmented Evaluation of AI in Healthcare**: Concerns regarding the lack of real patient data in evaluating AI tools, emphasizing the need for thorough assessments. - **Cybersecurity Risks**: Increased vulnerabilities to cyberattacks as healthcare organizations adopt AI technologies. ## Related Topics [[Clinical Genetics]]; [[Medical Biochemical Genetics]]; [[Laboratory Genetics]]; [[Genetic Pathology]]; [[Clinical Genomics]]; [[Molecular Genetic Pathology]]; [[Biochemical Genetics]]; [[Genetic Testing]]