This session will showcase how new technologies in genetics are being used to unravel questions about rare disorders and in the implementation of newborn sequencing. Speakers will share their experiences in identifying etiologies of rare disorders in the noncoding genome and clinical implementation of newborn sequencing.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Understand how new technologies are opening the door to identifying non-coding variants of clinical significance in rare disorders
• Understand the benefits and challenges of newborn sequencing and its clinical implementation
This session will focus on the novel applications of artificial intelligence to enhance diagnosis speed and accuracy, as well as biomarker discovery and targeted therapies. Speakers will provide an overview of artificial intelligence’s role in the diagnosis and management of genetic disorders and immuno-oncology.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Discuss the use of artificial intelligence and digital pathology as part of the main clinical tests in immuno-oncology and future developments.
• Describe the applications of artificial intelligence in genome interpretation, and digital pathology.
• Illustrate the use of Large Language Models (LLMs) in the analysis of health records (EHRs).
• Discuss the regulatory framework around artificial intelligence in healthcare.
TALK TITLES:
10:45 – 11:30 | AI Applications in Diagnosing Genetic Disorders and Enhancing Oncology Outcomes: Artificial Intelligence (AI) is revolutionizing clinical genetics, pathology, and molecular medicine by enhancing diagnostic processes and personalizing patient care through the analysis of complex data. The presentation will delve into AI’s pivotal role in identifying diagnosis for genetic disease, revolutionizing cancer diagnosis, and discovering biomarkers for targeted therapies, alongside its integration into clinical workflows and regulatory considerations. Highlighting applications in genome interpretation, digital pathology, and the use of Large Language Models (LLMs) for EHR analysis, it underscores AI’s significant impact on improving diagnostic precision and efficiency in healthcare. | Francisco De la Vega, D.Sc.
11:30 – 12:15 | AI in Immuno-oncology Markers, The New Morpho-Molecular Pathology: This lecture will review the main clinical tests in immuno-oncology, provide an analysis of the DP/AI status to date, and describe the future avenues in this area. | Manuel Salto-Tellez, MD-LMS, FRCPath, FRCPI
In the wake of COVID-19 and mpox, the threat of the next emerging or re-emerging pathogen of substantial public health significance looms on the horizon. Changes in climate and other impacts on ecosystems are driving new interactions between animals, humans and concerning pathogens. In this session, the first speaker will discuss genomic surveillance for H5N1 influenza A as it inches closer and closer to human to human transmissibility. The second speaker will discuss molecular mechanisms and diagnostics implications for a more smoldering threat- drug resistant fungi, which have primarily arisen due to the overuse of antifungals in agriculture.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Identify pathogens that have the potential to cause pandemic or other public health emergencies.
• Describe the molecular mechanisms behind their emergence as threats in recent years.
• Discuss the role of molecular diagnostic laboratories in the front lines of surveillance for these pathogens.
TALK TITLES:
15:15 – 15:45 | High Pathogenicity Avian Influenza Viruses – The Only Certainty Is Change: Since 2021, a highly pathogenicity strain of avian influenza known as HPAI H5N1 clade 2.3.4.4b has caused a panzootic of unprecedented magnitude among birds accompanied by spill over events in a remarkable number of mammals. Through the lens of molecular genetic surveillance, how this virus is evolving and what evolutionary steps it has taken towards increased adaptation to mammals will be discussed. | Isabella Monne, DVM, PhD
This session will focus on the novel applications of artificial intelligence to enhance diagnosis speed and accuracy, as well as biomarker discovery and targeted therapies. Speakers will provide an overview of artificial intelligence’s role in the diagnosis and management of genetic disorders and immuno-oncology.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Discuss the use of artificial intelligence and digital pathology as part of the main clinical tests in immuno-oncology and future developments.
• Describe the applications of artificial intelligence in genome interpretation, and digital pathology.
Illustrate the use of Large Language Models (LLMs) in the analysis of health records (EHRs). 4. Discuss the regulatory framework around artificial intelligence in healthcare.
The rates of multi-drug resistant (MDR) bacterial infections acquired in healthcare settings and in the community, are continuing to increase in incidence and complexity of underlying mechanisms. In order to effectively characterize and target these infections, novel approaches are needed beyond conventional phenotypic testing. Many emerging approaches generate massively complex data sets that are well suited for artificial intelligence (AI) algorithms. In this session, one speaker will describe the applications of next generation sequencing and machine learning to predict antimicrobial resistance, while the second speaker will discuss bacteriophages as a re-emerging treatment for MDR infections with a focus on bacteriophage genomics and potential applications of AI.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Describe the public health impact of multi-drug resistant infections and the limitations of conventional approaches to testing and treatment.
• Discuss the use of next generation sequencing and machine learning algorithms for antimicrobial resistance prediction.
• Recognize the role of bacteriophage genomics in treatment efficacy prediction.
TALK TITLES:
08:00 – 08:30 | The Use of AI in the Development of Bacteriophages as Therapeutics: The latest figures report that antimicrobial resistant bacteria killed more people in 2019 than malaria, HIV/aids and dementia put together and unless novel treatments are developed, the situation is anticipated to become far worse. Bacteriophages, viruses that target and kill bacteria, offer a tangentially different approach to both identifying and treating diseases. All bacteria have these natural enemies whose diversity is evidenced by each bacterial species being attacked by multiple families of phages; many with no recognisable gene content. I will show how AI can be used to solve many complex problems within phage biology, to identify the function of novel genes and proteins, to compare and select phages and to combine combinations of phages with standard antimicrobials. | Martha Clokie, PhD
TALK TITLES:
11:00 – 12:00 | Molecular Pathology of Lymphoma – Translating New Knowledge Into Cutting-Edge Diagnostics: The talk will focus on how molecular techniques including NGS-based mutational analysis and clonality determination integrated with conventional techniques refine our current understanding and classification of lymphomas and advance diagnostic accuracy. Using newly defined entities and specific diagnostic settings as examples, I will discuss the potentials and limits of molecular profiling in lymphoproliferations | Falko Fend, MD
This session will be programed with selected abstracts from the Organizing Committee.
Please check back in April for full session information.
This session will be programed with selected abstracts from the Organizing Committee.
Please check back in April for full session information.
This session will focus on the challenges that variant interpretation in rare diseases or minority populations presents to genetics professionals. Speakers will provide an overview of the development of computational approaches to study the non-coding genome, and to develop and implement polygenic risk scores in the population addressing needs for minority populations.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Understand how computational approaches can be used to study non-coding variants
• Understand the challenges in developing and implementing polygenic risk scores that take into account minority populations
This session will focus on the latest developments in methods for detection of minimal residual disease (MRD) in hematologic malignancies and solid tumors. Speakers will provide an overview of development and evaluation of new MRD strategies and techniques, as well as their implications for cancer monitoring and prognostication. The session will also address the development and implementation of guidelines for use and interpretation of these analyses.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Describe the clinical utility of MRD testing with regard to prognostic and therapeutic implications.
• Identify recent technical advances enabling high-sensitivity detection of MRD in hematologic and solid malignancies.
• Recognize the importance of standardization and quality assessment among MRD assays.
TALK TITLES:
16:00 – 16:30 | Assessment of Molecular Residual Disease in Solid Tumors – Strategies, Challenges and Opportunities in Clinical Applications: Detection of molecular residual disease (MRD) in cell free DNA has emerged as a promising monitoring approach, which may enable early detection of recurrence and predict treatment efficacy in patients with cancer. This session presents an overview of current testing strategies, the potential applications and the challenges to overcome with the implementation of this technology in routine clinical practice. | Maria Arcila, MD
16:30 – 17:00 | Quantitation of Immunoreceptor Gene Rearrangements by qPCR and NGS for Measurable Residual Disease Detection in Lymphoid Malignancies: Detection of clonal-specific rearrangements of immunoglobulin and T-cell receptor genes enables specific and sensitive detection of residual disease in a spectrum of lymphoid malignancies for prognostication and therapy selection. Recent results indicate that NGS detection is more specific in determining true negativity of residual disease at critical stages of treatment. | Jan Trka, MD, PhD
This session will focus on the latest developments in Pharmacogenomics (PGx) and its implementation for clinical care at the health system level. Speakers will provide an overview of new studies showing benefits of PGx adoption and learnings from clinical implementation within a health organization.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Understand the latest evidence on benefits of PGx.
• Understand the opportunities and barriers for deployment of routine PGx at institutions from Europe and the US
This session will be programed with selected abstracts from the Organizing Committee.
Please check back in April for full session information.
This session will be programed with selected abstracts from the Organizing Committee.
Please check back in April for full session information.
This session will address the critical importance of gene fusion detection for accurate diagnosis, prognosis, and identification of potential therapeutic targets. Strategies to uncover rare fusions and novel fusion partners across a broad range of tumor types will be discussed.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Describe the challenges of gene fusion detection in the routine diagnostic setting.
• Identify the strengths and limitations of various techniques to identify gene fusion events.
• Illustrate examples of clinically actionable gene fusions and druggable targets
TALK TITLES:
14:15 – 14:45 | Gene Fusions in Solid Tumors: Presenter will discuss the medical implications of identifying gene fusions in cancer. This will include the technical approaches, including pros and cons of different technologies. Reporting approaches to novel fusions will be discussed. Fusions have become critical therapeutic targets, and important examples will be highlighted. | Anthony Iafrate, PhD.
This session will focus on the application of Digital Twin technology in healthcare, its benefits, and ethical considerations on the use of artificial intelligence.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Illustrate the concept and significance of creating a digital representation of a patient’s physiological characteristics, medical history, and real-time data to enhance personalized healthcare.
• Describe the benefits of using patient Digital Twins to enable the use of predictive modeling, treatment optimization, early disease detection, and personalized medicine, improving patient outcomes and reducing healthcare costs.
• Understand how the patient digital twin can help understand uncertainties across populations, addressing concerns about equity and fairness.
• Experience how Virtual Humans can be used today as a revolutionary tool for healthcare professionals, pharmaceutical and devices industries, regulatory bodies, and CROs.
TALK TITLES:
14:15 – 14:45 | The Patient Digital Twin: Opportunities and Challenges: The Patient Digital Twin: the concept and significance of creating a digital representation of a patient’s physiological characteristics, medical history, and real-time data to enhance personalized healthcare. Applications and Benefits: the Patient Digital Twins can revolutionize healthcare by enabling predictive modeling, treatment optimization, early disease detection, and personalized medicine tailored to individual patients, ultimately improving patient outcomes and reducing healthcare costs. Ethical AI: The patient digital two can help us understand model performance and uncertainty across populations, addressing concerns about equity and fairness | Tina Hernandez-Boussard, PhD MPH, MS, FACMI
14:45 – 15:15 | Virtual Human Twins or The future of medicine NOW. The Cardiac Example: In this talk, I will introduce examples of our Supercomputer-based Virtual Human Twins. These are mixed mechanistic-AI computational multi-scale models of different organs and systems of a human being. ELEM is a spinoff company of the Barcelona Supercomputing Center, whose core technology is an accurate multi-scale / multi-physics modelling software, Alya Red, which can run with remarkable efficiency in High Performance Computing instances, notably in supercomputers. I will present our advances in cardiovascular diseases, such as cardio-toxicity of drugs, cardiac resynchronization therapies and other examples. | Mariano Vázquez, PhD
This session will focus on the recent advances leveraging DNA methylation-based assays as a diagnostic tool, as well as for the detection and prognosis of human cancers. The latest developments in DNA methylation-based classification of tumors including CNS malignancies and sarcomas will be discussed. The session will also highlight the application of methylation analysis of circulating tumor DNA (ctDNA) for multi-cancer detection.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Explain how the cancer methylome may be leveraged to identify tumor origin
• Describe the strengths and weaknesses of machine-learning-based tumor classifiers
• Anticipate practical considerations for methylation-based assays for ctDNA detection
TALK TITLES:
15:45 – 16:20 | Methylation Based Classification of Sarcomas and Epithelial Tumors: A sarcoma classifier learned for recognizing 60 entities has been made public in 2021. Here an updated version based on a reference set tripled in numbers with 25 additional entities included will be presented. Developments towards organ specific epithelial tumor classifiers will be discussed. | Andreas Von Deimling, MD