SWH 2020: 3rd International Workshop on Semantic Web Meets Health Data Management

Co-located with ISWC 2020, Athens, Greece

November 2, 2020

Invited Keynotes

An ecosystem for precision medicine: Closing the cycle from doctor to patient

by Irini Fundulaki

Abstract: In this talk we are going to present an ecosystem of ICT tools that have been developed in the context of two Greek National Initiatives for Precision Medicine on Inherited Cardiovascular Diseases and Neurodegenerative Diseases. The ultimate objective of the ecosystem is to support clinicians and researchers in the process of diagnosis and research on the basis of clinical and genetic data of their patients. The ecosystem comprises of registries that record the patients' clinical data, of an e-prescription system that provides the doctor the ability to prescribe genetic tests, of a system that allows the doctor and lab members to follow the progress of the analysis of a sample, and finally a genetic data repository. We followed a patient-centric design that allows one to connect the systems with other registries, bio-banks, hospital systems among other thereby providing a complete view of the patient's health condition.

Short CV: Irini Fundulaki is a Principal Researcher of the Information Systems Laboratory of the Institute of Computer Science, FORTH. She has a Bachelor and Master’s Degree from the Department of Computer Science, University of Crete, and a PhD Degree in Computer Science from the Conservatoire National des Arts et Metiers in Paris, France. During her PhD, she was a member of the Verso Database Group of the Insitut National de Recherche en Informatique et en Automatique (INRIA). After her PhD, she held a PostDoc position and then became a Member of Technical Staff at the Network Data and Services Research Department in Bell Laboratories of Lucent Technologies. She subsequently moved to the Database Group of the School of Informatics of he University of Edinburgh where she held a Research Fellow Position.

Her research interests are in the area of Web Data Management and more specifically, on Provenance Models, Scalable Query Processing and Access Control for Linked Data. She has worked extensively on the development of Benchmarks for Linked Data tools focusing on Instance Matching and Link Discovery topics. She is responsible for the development of ICT tools for three Greek National Initiatives on Precision Medicine, namely for the Hellenic Precision Medicine Network on Cancer, Greek National Network of Genetic and Cardiology Research and Prevention of Sudden Death in the Young, and the network for the study and research on Neurodegenerative Diseases.

Irini has published a number of scientific articles that have been widely cited and she has served on the Program Committee of numerous international conferences, journals and workshops.

The jungle of real world clinical data – the need for harmonization

by Mark Hoffman

Abstract: Data harvested from the real-world use of electronic health record (EHR) systems has significant potential for research in patient outcomes, epidemiology and healthcare services. EHRs are highly heterogeneous and are generally implemented with a focus on workflow and documentation, not data quality or consistency. This talk will highlight examples that demonstrate the power of using EHR data to compare "real world" clinical practice to accepted best practices or guidelines. Examples of profiling multi-contributor, de-identified EHR data will highlight the need to promote semantic interoperability and careful consideration of "real world" practices when performing academic research with this type of data.

Short CV: Mark Hoffman, PhD, serves as the Chief Research Information officer for Children’s Mercy and the Children’s Mercy Research Institute. Dr. Hoffman’s role is to accelerate and improve all types of research at the Children’s Mercy Research Institute through resources such as data, applications and technology.

Dr. Hoffman earned his doctorate in Bacteriology from the University of Wisconsin-Madison. He joined Cerner in 1997 as a software engineer where he advanced to the role of Vice President for Genomics and Research.

In 2013, Dr. Hoffman joined the faculty at the University of Missouri Kansas City (UMKC) in the Departments of Biomedical and Health Informatics and Pediatrics. At UMKC he launched the Center for Health Insights and brought new informatics capabilities to the university, including REDCap, i2b2 and the Cerner Health Facts data.

His formal training in research and experience in software development have prepared him to effectively connect the needs of researchers to the capabilities of technology-solutions. During his 16 years at Cerner and three years at UMKC, he consistently worked to identify or build the best capabilities possible to meet rapidly changing requirements in genomics, public health and “big data.” In his role as Vice President of Research at Cerner, he had the opportunity to meet with a wide variety of clinical research organizations around the world, learning about their successes and challenges.

Dr. Hoffman joined Children’s Mercy in 2016. He is the primary investigator on a CDC grant to utilize clinical and laboratory data warehouses to inform quality improvement and he continues to serve on the faculty at UMKC. He has delivered a TED talk on the “Envirome” and won the iThermometer category in the Google wearable devices in health care challenge in 2015. He is an inventor of 22 (19 US, 3 international) issued patents and a member of the American Academy of Inventors.

His professional background informs how he approaches his role at Children’s Mercy. But most importantly, he brings experience as a parent of two children who have been patients at the hospital. He is personally committed to ensuring that researchers at the Children’s Mercy Research Institute have access to the best technical resources and experts available to help them find answers as quickly and effectively as possible for children and their families.