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SESSION DESCRIPTION:
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
PRESENTATION INFORMATION:
09:15 – 09:45
The Generation Study: Exploring The Potential of Newborn Genome Sequencing
Amanda Pichini, MSc in Genetic Counselling
The Generation Study is a groundbreaking national research study which will sequence the genomes of 100,000 newborn babies with the aim of screening for 200+ rare genetic conditions for earlier diagnosis and treatment; enable evaluation and wider research; and explore the risks and benefits of storing a genome over a lifetime. It is run in partnership with the National Health Service and has been developed following extensive consultation with the public, parents and families affected by rare conditions, healthcare professionals, policymakers and scientists. This presentation will outline the process taken to co-design and implement the study; highlight early themes from parents and hospitals taking part; and discuss the future potential of this approach.
09:45 – 10:15
Exploring the Noncoding Genome with Chromosomal Structural Rearrangements
Cynthia Casson Morton, PhD
An impressive percentage of rare disease patients remain without a genetic diagnosis despite phenotypes that exhibit hallmarks of genetic disorders. Relatively recent annotations of long noncoding RNAs (lncRNAs) represent a new avenue of investigation due to their genomic signature of divergent orientation, regulatory role and paired location with a protein-coding gene. The Developmental Genome Anatomy Project (DGAP) recruited individuals with balanced chromosome rearrangements and has explored the presence of disrupted and dysregulated lncRNAs that track with developmental phenotypes.
SESSION DESCRIPTION:
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.
PRESENTATION INFORMATION:
10:45 – 11:30
AI Applications in Diagnosing Genetic Disorders and Enhancing Oncology Outcomes
Francisco De la Vega, D.Sc.
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.
11:30 – 12:15
AI in Immuno-oncology Markers, The New Morpho-Molecular Pathology
Manuel Salto-Tellez, MD-LMS, FRCPath, FRCPI
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.
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
SESSION DESCRIPTION:
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 smouldering 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.
PRESENTATION INFORMATION:
14:45 – 15:15
The Emerging Threat of Azole Resistant Aspergillus Infection:
Lewis White, PhD, FRCPath FECMM
Exposure to Aspergillus is unavoidable and the population at risk of infection increases annually. The dual use of antifungals in the clinic and the environment is driving azole resistant Aspergillus infection, leading to the development of resistant disease in the patient who is naïve to treatment, with resistance associated with a growing array of associated genetic mechanisms. The presentation will discuss the main genetic mechanisms of azole resistance in Aspergillus infection, how molecular techniques are being used to detect these mutations, and the expanding range of genetic mechanisms and provide insight into phylogenetic and evolutionary developments.
15:15 – 15:45
High Pathogenicity Avian Influenza Viruses – The Only Certainty Is Change
Isabella Monne, DVM, PhD
Since 2021, a high 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 spillover 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.
SESSION DESCRIPTION:
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, as well as illustrate the use of Large Language Models (LLMs) in the analysis of health records (EHRs).
•Discuss the regulatory framework around artificial intelligence in healthcare.
PRESENTATION INFORMATION:
14:45 – 15:45
Interoperability of Genomic Test Results into Electronic Health Records: Current Challenges and Future Opportunities
Alexis B. Carter, MD
Challenges with the interoperability of even relatively simple laboratory test results between different Electronic Health Records (EHRs) have been well documented in the United States. The challenges in achieving interoperable and comparable genomic test results are far higher. This talk will go over existing barriers to genomic data interoperability as well as prior and current work being done to address the issue in the United States and beyond.
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
SESSION DESCRIPTION:
Myeloid neoplasms are a group of clonal disorders characterized by a proliferation of hematopoietic stem cells, recurrent genetic abnormalities, myelodysplasia, ineffective hematopoiesis, peripheral blood changes and a high risk of evolution to acute myeloid leukaemia. Genomic characterization is essential for the management of myeloid neoplasms, providing critical information for diagnosis, risk assessment, therapeutic decisions, residual disease monitoring, progression, and treatment resistance. The NCCN recommends the incorporation of somatic gene mutation testing in PB or BM for patients with myeloid neoplasms while recently published ICC and WHO guidelines recognize the mutation-defined disease entities. Additionally, the International Working Group for Prognosis in myelodysplastic syndrome recently developed and validated a clinical-molecular prognostic model for accurate risk stratification of individual patients. In this session, the speaker will describe how genomic profiling can aid in the subclassification of myeloid neoplasms as well as in risk stratification and therapeutic decision-making.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
PRESENTATION INFORMATION:
17:30 – 18:30
From Biomarker Discoveries to Clinical Guidelines
Elli Papaemannuil, PhD
Dr. Papaemmanuil will provide a perspective on critical considerations for the development, validation and incorporation of molecular biomarkers into clinical guidelines for disease classification, risk stratification and treatment decisions for myeloid neoplasms.
Join us for a reception in the exhibition area to meet, network and mingle with fellow attendees.
SESSION DESCRIPTION:
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.
PRESENTATION INFORMATION:
08:00 – 08:30
The Use of AI in the Development of Bacteriophages as Therapeutics
Martha Clokie, PhD
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.
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
SESSION DESCRIPTION:
Application of molecular techniques has revealed the complexity of genetic events in lymphomagenesis, progression, and acquired resistance to therapies. Our understanding of molecular pathophysiology allowed for continuously increasing emphasis on integrating molecular genetics with clinical, morphologic, immunophenotypic, and cytogenetic evaluation for diagnosis and treatment of lymphomas. This session will focus on describing how genetic profiling has contributed profoundly to our current understanding of lymphomas and shaped the two current lymphoma classifications, the International Consensus Classification and the fifth edition of the WHO classification of lymphoid malignancies.
SESSION OBJECTIVES:
After attending this session, participants should be able to:
• Participants will be able to describe which molecular test results are used for diagnosis and subclassification of lymphomas.
• Participants will be able to discuss the importance of molecular genetic testing for delivery of prognostic and therapeutically relevant information for lymphomas.
PRESENTATION INFORMATION:
11:00 – 12:00
Molecular Pathology of Lymphoma – Translating New Knowledge Into Cutting-Edge Diagnostics
Falko Fend, MD
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.
SESSION DESCRIPTION:
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
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
PRESENTATION INFORMATION:
14:15 (G-01)
Evaluation of PGx data to enhance the clinical utility of whole-genome sequencing testing
14:30 (G-02)
Frequency Of Medically Actionable Incidental Findings From Exome Sequencing Data of Deemed Healthy Individuals From India
14:45 (G-03)
Correlating Clinical and Pathological Spectrums: A Study of Germline and Somatic DICER1 Alterations in Cancer Patients
15:00 (G-04)
Population-based MSI testing: consequences for Lynch syndrome screening in colorectal patients
PRESENTATION INFORMATION:
14:15 (I-01)
Can Large Language Models Aid in Rare Disease Management? – A Case of Metastatic Uterine Carcinosarcoma
14:30 (I-02)
Oncology Informatics in Ireland & The National Cancer Information System (NCIS): A Review from the Perspective of Interoperability, Health Data Sharing & Cancer Genomics.
14:45 (I-03)
Pgxtools: a New Pharmacogenetic Analysis Tool Integrated with the Clinical Pharmacogenetics Implementation Consortium Database
15:00 (I-04)
Incorporation of Tumor Neoantigen Load Enhances Immunotherapy Response Prediction
SESSION DESCRIPTION:
This session will focus on the latest developments in methods for the detection of minimal residual disease (MRD) in hematologic malignancies and solid tumors. Speakers will provide an overview of the 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 the 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.
PRESENTATION INFORMATION:
16:00 – 16:30
Assessment of Molecular Residual Disease in Solid Tumors – Strategies, Challenges and Opportunities in Clinical Applications
Maria Arcila, MD
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.
16:30 – 17:00
Quantitation of Immunoreceptor Gene Rearrangements by qPCR and NGS for Measurable Residual Disease Detection in Lymphoid Malignancies
Jan Trka, MD, PhD
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.
SESSION DESCRIPTION:
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
PRESENTATION INFORMATION:
08:00 – 08:30
Design and Implementation of Clinical Pharmacogenomics at UCSF Health
Bani Tamraz, PharmD, PhD
UCSF Health, a large tertiary academic medical center, recently implemented a preemptive, opt-out, clinical PGx testing program linked to an electronic clinical decision support (CDS) system that delivers clinically meaningful and actionable PGx information to front-line clinicians at point-of-care. This presentation will describe the design, implementation, and preliminary results associated with this program.
08:30 – 09:00
Implementing PGx in Europe: Experiences From the U-PGx PREPARE Study and Beyond
Jesse Swen, PharmD, PhD
Retrospective, prospective and naturalistic studies all provide compelling evidence that genetic variation affects the way people respond to drugs. Currently, reactive, and pre-therapeutic single-gene PGx tests are increasingly applied in clinical practice for several indications, such as DPYD testing in oncology. Moreover, specific recommendations on how to tailor drug treatment based on genetic test results are available from the Dutch Pharmacogenetics Working Group (DPWG) and Clinical Pharmacogenetics Implementation Consortium (CPIC) for a large number of drugs. In addition to pre-therapeutic testing for a single gene, pharmacogenetic panel-based testing represents a new model for precision medicine. While several small studies indicated a panel approach is indeed favourable, the Ubiquitous Pharmacogenomics Consortium recently completed the PREemptive Pharmacogenomic testing for prevention of Adverse drug Reactions (PREPARE) study. In this presentation, the results and experiences from PREPARE as well as the next steps for moving PGx testing from promise to practice will be discussed.
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
PRESENTATION INFORMATION:
11:00 (H-01)
Genomic characterization using a cost-effective molecular strategy in Mexico reveals new associations into the low-frequency cases of Chronic Lymphocytic Leukemia
11:15 (H-02)
Gain of chromosome 1q in patients with acute myeloid leukemia with RAM-immunophenotype associated with worse outcome
11:30 (H-03)
Rare indels in exon 9 of CALR – a large health system experience
11:45 (H-04)
Clinicopathological profile of Acute Myeloid Leukemias with Myelodysplasia related mutations
PRESENTATION INFORMATION:
11:00 (ST-01)
Clinical Utility of a Pan-Cancer ctDNA Panel as a First-approach Test
11:15 (ST-02)
Cancer of Unknown Primary (CUP) Molecular Profile. Real Contribution of NGS Studies to Establish the Primary Site and Target Therapy Indication in a Clinical Laboratory.
11:30 (ST-03)
Longitudinal circulating tumor-DNA profiling predicts therapy response in melanoma patients
11:45 (ST-04)
DICER1-Positive Tumors: Expanding the Genotypic and Phenotypic Spectrum
Click on the link for more details of this session: https://amp-europe-congress.com/industry-program/
SESSION DESCRIPTION:
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
PRESENTATION INFORMATION:
14:15 – 15:15
Gene Fusions in Solid Tumors: Diagnosis and Treatment
Anthony Iafrate, PhD
The 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.
SESSION DESCRIPTION:
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.
PRESENTATION INFORMATION:
14:15 – 14:45
The Patient Digital Twin: Opportunities and Challenges
Tina Hernandez-Boussard, PhD MPH, MS, FACMI
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.
14:45 – 15:15
Virtual Human Twins or The future of medicine NOW. The Cardiac Example
Mariano Vázquez, PhD
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.
SESSION DESCRIPTION:
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
PRESENTATION INFORMATION:
15:30 – 16:05
Methylation-Based Classification of Sarcomas and Epithelial Tumors
Andreas Von Deimling, MD
A sarcoma classifier learned for recognizing 60 entities was 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.
16:05 – 16:45
Considerations for Clinical Implementation of Methylation-Based Assays for ctDNA Detection
MD Minetta Liu, MD
This presentation will focus on considerations for the clinical implementation of methylation-based ctDNA assays intended for early cancer detection and/or recurrence monitoring in solid tumors.
Federico A. Monzon is a molecular pathologist with extensive experience translating novel genomic technologies into clinical molecular tests, including leading studies on prostate and renal cancer genomics and the validation of one of the first FDA-cleared gene expression clinical assays for the diagnosis of tumors of unknown origin while at the University of Pittsburgh and Houston Methodist Hospital. At Invitae and Baylor Genetics laboratories, he pioneered the use of panel testing for hereditary cancers as well as cancer exome sequencing.
Dr. Monzon is a consultant on medical and scientific strategy for companies in the diagnostic space. Currently, he is Chief Medical Officer (CMO) at Delphi Diagnostics, a laboratory focused on providing genomic tools for the management of breast cancer patients. Prior to that, he served as CMP for Castle Diagnostics and served as Medical Director of Oncology and Medical Director for Latin America at Invitae Corporation. Previously, Dr. Monzon served as Director of Pathology at the Cancer Genetics Laboratory at Baylor College of Medicine. He earned his M.D. from the Universidad Nacional Autónoma de México (UNAM) and is board-certified by the American Board of Pathology in anatomic, clinical and molecular genetic pathology. Dr Monzon was the 2017 President of the Association for Molecular Pathology (AMP) and continues to be engaged in AMP and other professional societies to shape the future of clinical genomic medicine.