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Myriad Genetics

Myriad Genetics and Flatiron Health Collaborate to Expand Access to Genetic Testing Through EMR Integration

Illumina

QIAGEN and Illumina Unveil New Solutions to Advance Liquid Biopsy and Next-Generation Sequencing

Biobanks

The Role of Biobanks in Advancing Precision Medicine

AstraZeneca

AstraZeneca and Daiichi Sankyo's Enhertu Secures Conditional Approval in China for HER2-Mutated NSCLC Treatment

molecular diagnostics

SkylineDx Presents Breakthrough Data from Largest Melanoma Genomic Assay Trial at SMR Annual Meeting

Clario

Clario and PathAI Join Forces to Streamline GI Clinical Trials with Integrated Solutions

Foundation Medicine

FDA Approves FoundationOne® Liquid CDx as Companion Diagnostic for Itovebi™ (inavolisib) to Identify Hormone Receptor-Positive, HER2-Negative Breast Cancer Patients with PIK3CA Mutation

Gastric cancer

Roche’s VENTANA CLDN18 (43-14A) RxDx Assay for Identifying Gastric and GEJ Cancer Patients Receives CE Mark Approval

Tempest Therapeutics

Tempest and Roche Partner to Advance Amezalpat Combination Therapy into First-Line Hepatocellular Carcinoma Pivotal Trial

precision medicine

Singapore to Expand MediShield Life Coverage for Precision Medicine and Strengthen Genetic Data Protections

Bayer

Bayer and MOMA Therapeutics Partner to Advance Precision Oncology Therapies

DermTech

DermTech's Non-Invasive Genomic Testing Shows Promise in Differentiating Melanoma from Atypical Moles

Velsera

Velsera and Diagnostic Longwood Partner to Accelerate Precision Medicine in Spain and Portugal

Aurigene Oncology

Aurigene Oncology Reports Promising Phase 1 Results for India’s First CAR-T Cell Therapy in Multiple Myeloma

Agilus Diagnostics

Agilus Diagnostics Launches Pharmacogenomics Testing Service to Revolutionize Personalized Medicine

The Role of Biobanks in Advancing Precision Medicine
15 Oct 2024

The Role of Biobanks in Advancing Precision Medicine

Biobanks are structured repositories that collect, store, and manage biological samples (like blood, tissue, or DNA) along with associated data (such as medical history, demographics, or lifestyle). They play a crucial role in advancing precision medicine, which aims to deliver more personalized and effective healthcare based on individual genetic, environmental, and lifestyle factors. Below are the key contributions of biobanks toward the progress of precision medicine       1. Large-Scale Data for Genetic Research - Genomic Studies: Biobanks provide high-quality biological samples that researchers use to identify disease-causing mutations and genetic markers.   - Example: The UK Biobank, with its DNA samples from over 500,000 participants, supports studies on gene-disease associations. - GWAS (Genome-Wide Association Studies): These studies, powered by biobank data, help uncover complex interactions between genetics and diseases such as cancer, diabetes, and neurodegenerative disorders.   2. Linking Genetics with Clinical Outcomes - Phenotype-Genotype Correlation: Biobanks store not only DNA but also information on patients’ clinical outcomes, aiding in the study of how genes influence disease progression and treatment responses. - Predictive Models: With longitudinal data from biobanks, researchers can build models to predict disease risks and suggest preventive strategies tailored to individuals.   3. Development of Targeted Therapies - Drug Development and Biomarker Discovery: Biobanks allow pharmaceutical companies to identify new biomarkers, facilitating the development of targeted drugs and therapies for specific patient groups.   - Example: Biomarkers derived from biobank research have led to personalized cancer immunotherapies. - Pharmacogenomics: Research from biobank data enables understanding how genetic variations influence an individual’s response to specific drugs, reducing adverse drug reactions. 4. Enabling Population-Based Studies - Ethnic and Population Diversity: Biobanks with diverse samples enable precision medicine research that benefits various ethnic groups and improves health equity.   - Example: The All of Us Research Program in the U.S. emphasizes the inclusion of underrepresented communities. - Epidemiological Insights: Biobanks help researchers identify environmental, lifestyle, and behavioral factors that contribute to disease development, leading to personalized prevention strategies.   5. Facilitating AI and Machine Learning Models - Advanced Analytics: Machine learning algorithms applied to biobank data accelerate the discovery of patterns in large datasets. - Precision Diagnostics: AI-powered insights help in refining diagnostic tools, such as predictive models for early disease detection based on genetic data.   6. Supporting Clinical Trials and Personalized Treatment - Pre-screening for Clinical Trials: Biobank data help identify patients with specific genetic or molecular profiles, improving trial recruitment and success rates. - Adaptive Trials: Biobank-driven studies support adaptive clinical trials, where treatments are tailored and adjusted based on patient responses during the trial phase.   7. Challenges and Ethical Considerations - Data Privacy and Security: Storing sensitive health data requires robust security frameworks to ensure privacy. - Informed Consent: Biobanks must maintain transparent policies around how samples and data are used. - Equity in Access: Ensuring that advances in precision medicine benefit all populations is an ongoing challenge.   Biobanks are indispensable to the progress of precision medicine by providing the raw materials—biological samples and data—needed for cutting-edge research. They bridge the gap between laboratory discoveries and clinical applications, enabling the development of personalized therapies and interventions that improve patient outcomes. As biobanks grow in scale and diversity, their role in transforming healthcare becomes even more critical.

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Medical issues and perspectives


Precision Diagnostics with AI and Cardiogenomics for Heart Conditions
29 Sep 2024

Precision Diagnostics with AI and Cardiogenomics for Heart Conditions

 

Advances in artificial intelligence (AI) and cardiogenomics are revolutionizing the early detection and personalized treatment of cardiovascular diseases (CVDs). Genetic testing, endorsed by the American Heart Association (AHA) in 2020, has become an essential tool for patients with cardiomyopathy, arrhythmic, vascular, and lipid disorders like familial hypercholesterolemia. The AHA identified 30 medically actionable genes related to cardiovascular health, enabling physicians to order tests ranging from single-gene panels to whole-genome sequencing. Although whole-genome sequencing is more common in research, it aids in advancing knowledge of gene-disease relationships, offering critical insights for patient care.

One significant benefit of cardiogenomics is its ability to assess the cumulative effect of small gene variants—single nucleotide polymorphisms (SNPs)—that increase CVD risk. Researchers can generate polygenic risk scores (PRS) using this data, predicting an individual's susceptibility to heart disease before clinical symptoms appear. These risk scores play a pivotal role in precision medicine, allowing clinicians to tailor preventative measures and treatment strategies based on genetic predispositions.

AI further enhances the precision diagnostics of heart conditions, particularly in analyzing electrocardiograms (ECGs). ECG is a widely available, low-cost diagnostic tool that can reveal early signs of CVDs. However, its effectiveness is often limited by the clinician’s expertise and the complexity of the raw data, which contains thousands of data points. AI's computational power and learning ability enable it to detect subtle, clinically relevant patterns in ECG data that may be overlooked by human interpretation. These insights provide early and more accurate diagnoses of conditions like ventricular dysfunction, aortic stenosis, and cardiomyopathies.

By integrating AI-driven analysis and cardiogenomics, healthcare professionals can develop personalized treatment plans that address each patient's unique genetic risk profile. This approach enhances the accuracy of CVD diagnoses, improves patient outcomes, and advances precision medicine in cardiology.

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Leading Digital Pathology Solutions for Enhanced Diagnosis and Research
15 Sep 2024

Leading Digital Pathology Solutions for Enhanced Diagnosis and Research

Paige.AI

Paige is at the forefront of digital pathology, offering AI-driven solutions to enhance cancer diagnosis. By leveraging the world’s largest cancer image library and associated genomic data, Paige has built the most advanced AI models for detecting and quantifying cancer in biopsies. As the only FDA-authorized AI in pathology, its web-based Paige Platform streamlines diagnosis through intelligent case management, slide review, and collaboration, significantly reducing errors and time to diagnosis. Trusted by pathologists globally, Paige’s technology empowers clinicians to detect atypical cancers, minimize second opinion requests, and perform quality assurance with confidence, improving patient care across the cancer continuum.

Paige offers several AI-powered digital pathology products, including:

1. Paige Platform – A web-based ecosystem for cancer diagnosis, case management, and collaboration.

2. Paige Prostate – An AI tool designed to assist pathologists in detecting prostate cancer, reducing errors and time to diagnosis.

3. Paige Breast Lymph Node – An AI solution that enhances pathologist efficiency in detecting breast cancer in lymph nodes.

PathAI

PathAI provide comprehensive precision pathology solutions using AI, leveraging 15 million annotations from over 450 pathologists to accelerate drug development, enhance diagnostic accuracy, and deliver life-saving therapies faster.

Its AISight is a cutting-edge cloud-native enterprise solution, streamlining digital pathology workflows for leading laboratories and research centers. AISight drives biomarker and drug discovery through translational AI products in oncology, MASH, and IBD, offering custom algorithm development and spatial analysis of H&E and IHC signatures. With access to over 50 million slides and samples AISight supports translational research, biomarker discovery, and AI-driven spatial analyses for H&E and IHC signatures.

AISight also facilitates the development and commercialization of precision medicine strategies, offering a seamless transition from diagnostics development to market launch. It links quantitative histopathology data to real-world clinical outcomes, enabling the identification and validation of predictive biomarkers in large patient cohorts. AISight empowers laboratories to revolutionize healthcare by integrating AI in diagnostics and translational research.

 

Philips

Philips digital pathology solution: The IntelliSite Image Management System (IMS) is a comprehensive digital image management solution for pathology labs, designed to streamline workflows and improve diagnostic efficiency. It includes a pathology viewer, server, and storage application, offering seamless integration with existing IT infrastructures and LIS systems. IMS supports whole slide images (WSI), gross images, secure networking, audit trails, and archiving. With interoperability for third-party AI applications, it enables AI-powered pathology workflows, enhancing productivity. The system facilitates remote collaboration and helps mitigate the global shortage of pathologists. Users have reported efficiency improvements of up to 20%, with productivity gains reaching 37% using AI solutions.

Roche

Roche offers a comprehensive suite of digital pathology products, including whole slide imaging, enterprise software, AI-based image analysis, and system integration. Their VENTANA® DP 200 slide scanner, combined with digital workflow software, allows pathologists to diagnose patients using digital images. Roche emphasizes reliable hardware, user-friendly software, and advanced cybersecurity to protect patient data.

By partnering with Roche, labs gain access to AI-powered decision support, enhanced collaboration tools, and streamlined workflows. This reduces travel time, eliminates courier services, and expands access to specialists, improving care distribution and supporting research, diagnosis, and pathology education across geographies.

Leica:

Image quality is key to accurate diagnostics, whether viewing slides directly or on-screen. Leica's Aperio Clinical Solution enhances your diagnostic experience with advanced digital pathology, supporting universal case access and professional collaboration.

Designed for lab managers, IT professionals, and pathologists, it integrates seamlessly into your LIS/LIMS system. High-quality whole-slide images are produced by the Aperio GT 450 DX scanner and managed with the eSlide Manager and WebViewer DX.

With over 20 years of innovation, Aperio offers scalable, secure software solutions for efficient image and data management, providing flexible on-premises, hosted, or cloud-based deployment options.

 

Fujifilm:

Fujifilm's vendor-agnostic Synapse® Pathology PACS streamlines case management with advanced image digitization and solution interoperability, speeding up pathology report turnaround. Its open, cloud-accessible architecture allows customers to choose the instruments, AI tools, and systems best suited to their pathology workflows, including clinical diagnosis, research, and tumor boards.

Synapse Pathology enables pathologists to view images, render diagnoses, and collaborate remotely, eliminating the need for glass slides. As the only FDA-cleared solution for primary diagnosis with multiple scanners, it provides laboratories the flexibility to develop their own image analysis tools or integrate vendor algorithms easily.

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