St. Jude Children’s Research Hospital provides comprehensive inpatient and outpatient care for children with catastrophic diseases, focusing on childhood cancer, infectious diseases, and sickle cell disease. St. Jude has a long history of research and discovery in pharmacogenetics and genomics. Our translational research experience combined with clinical and laboratory expertise in therapeutic drug monitoring have formed the foundation of our efforts to implement pharmacogenetics as standard of care for our patients. Most St. Jude patients are eligible to enroll in an ongoing clinical trial called PG4KDS, a research protocol designed to implement preemptive pharmacogenetic test results into routine clinical care (www.stjude.org/pg4kds). St. Jude has a fully functional and integrated electronic health record (EHR) system from Cerner Corporation.
The Action Collaborative on Developing Guiding Principles for Integrating Genomic Information Into the Electronic Health Record Ecosystem, as an ad hoc activity under the auspices of the Roundtable on Translating Genomic-Based Research for Health, convenes key stakeholders from health information technology and management vendors, academic health centers, government agencies, and other organizations to work together to examine how genomic information can be uniformly represented and integrated into electronic health records in a standards-based format.
Participants: Co-led by EHR developers and academic health center end user representatives, the Action Collaborative will seek to engage expertise from these groups, government agencies, and other health information technology professionals. Participants of this Action Collaborative also include representatives with subject matter expertise in clinical decision support tools, standards for genomic language, and genomic data privacy issues.
Established in 1807, The University of Maryland School of Medicine is the first public and the fifth oldest medical school in the United States, and the first to institute a residency training program. The School of Medicine was the founding school of the University of Maryland and today is an integral part of the 11-campus University System of Maryland. On the University of Maryland’s Baltimore campus, the School of Medicine serves as the anchor for a large academic health center which aims to provide the best medical education, conduct the most innovative biomedical research and provide the best patient care and community service to Maryland and beyond. While its tradition of excellence remains constant, the School of Medicine and its reputation for academic achievement continue to grow.
University of Maryland School of Medicine is one of the sites in the following two NIH networks: the Pharmacogenomics Research Network (PGRN) and Genomic Diagnosis and Personalized Therapy for Highly Penetrant Genetic Diabetes (IGNITE).
CAG is one of ten Centers for Emphasis of the Children’s Hospital of Philadelphia (CHOP). The CHOP Health Care Network includes over 50 practice sites throughout Pennsylvania and New Jersey which are live on the EpicCare EMR system. CHOP has assembled the components of the country’s largest pediatric integrated delivery system, supporting >1.1 million visits/year within the primary and specialty care networks, community-based inpatient pediatric and neonatal programs, a rehabilitation hospital, and a home care service. It provides acute- and well-care to patients in urban, rural, and suburban settings. CAG’s mission is to develop new and better ways to diagnose and treat children affected by both common and rare complex medical disorders. We aim to discover genetic causes for the most prevalent diseases of childhood including asthma, autism, diabetes, epilepsy, obesity, schizophrenia, and pediatric cancers. Ultimately, CAG’s objective is to generate new diagnostic tests and to guide physicians to the most appropriate therapies.
Group Health Cooperative with the University of Washington and the Fred Hutchinson Cancer Research Center (GHC/UW) as part of the Seattle eMERGE project aims to bring personal genomics to practice settings by taking advantage of the extensive electronic medical record (EMR) and biorepository of Group Health Cooperative (GHC), including a pharmacy database and longitudinal data on an aging population. The team has created a model for introducing genomics into clinical practice, performed successful needs assessment methods from eMERGE Phase I will engage stakeholders in guiding development of prototype EMR user interfaces in a clinical decision support format utilizing natural language processing. To disseminate eMERGE results and foster collaborations, GroupHealth leverages its advantage of leadership positions of the investigators (including partners within eMERGE, other consortia and the HMO Research network, especially the potential for developments supported by the NIH Director’s markers), improve the linking of high-throughput genomic methods to EMR data, and develop policies and practices for bringing individualized evidence-based medicine to communities.
Northwestern University is dedicated to translational research efforts and has focused efforts over the last several years on improving the informatics, clinical, and research enterprise. Northwestern has a widely-deployed, commercial EHR, EPIC, and developed technical approaches for integrating genetic variation data into the health record and effectively present these results using point-of-care, decision support tools to physicians. A goal of this effort is to develop best practices collaboratively within the network, for reporting of genetic variation data and developing local practice guidelines for using genetic data in primary care physicians and their patients, defining the regulatory issues and then disseminating lessons learned and best practice recommendations.
Vanderbilt’s personalized medicine program strives to be a leading international center in the transformation of medicine to focus on the individual. The mission includes support of discovery, translation and implementation science in the mechanisms of variable susceptibility to disease and drug responses to improve human health. This includes a focus on genomics as well as many other environmental and socio-cultural factors that drive susceptibility to disease and variable drug responses. The program operates from the Office of Personalized Medicine under Dan M. Roden, M.D., Assistant Vice-Chancellor for Personalized Medicine.
Scientific discovery remains the cornerstone for advancing an agenda in personalized medicine. Discoveries can be at the very basic cellular or molecular level, in whole animals, and in patients; moving discoveries from the bench to the bedside remains a high priority as well.
Vanderbilt has a longstanding commitment to personalized medicine that has included:
Vanderbilt is a site in three NIH networks: the Pharmacogenomics Research Network (PGRN); Integrated, Individualized, and Intelligent Prescribing (I³P) Network (IGNITE); and the Electronic Medical Records and Genomics Network (eMERGE).
Team: Josh Peterson, MD, MPH; Dan Roden, MD; Josh Denny MD, MS
Enabling Personalized Medicine in clinical care to improve health profiles in diverse communities is a top priority in the strategic plan of The Icahn School of Medicine at Mount Sinai. Mount Sinai serves diverse communities of New York City with broad health disparities. Mount Sinai Medical Center and the Institute for Personalized Medicine (IPM) are committed to share these unique resources to advance genomic medicine, as a member of the eMERGE II Network and to advance the clinical translation of genomic knowledge to reduce health disparities and improve health outcomes in diverse communities. IPM looks to provide investigators with greater and easier access to high quality standardized data linked with longitudinal clinical information, and with technology support for discovering clinically important genotype-phenotype associations. IPM facilitates clinical development of gene-based diagnostics and risk assessment algorithms and evaluates their impact on health care delivery at the patient and population level.
Marshfield Clinic is preparing its clinical systems for meaningful use, accountable care and patient centered home care. Because of this, the EHR development and systems are being redesigned to focus on delivering services that will interact with decision support engines and clinical databases to drive changes to support additional data collection and medical decision-making.
Geisinger Health System (GHS) is an integrated, comprehensive health care delivery system that serves a large, stable, mainly rural population in north central and northeastern Pennsylvania. Geisinger has a fully functional and integrated electronic medical record (EMR) system, and is a recognized leader in the use of EMR and health information technology. GHS has received national accolades for its commitment to developing and testing information technology-enabled innovations in health care delivery. Geisinger’s infrastructure and experience in this area provide a paradigm for incorporating genomic data into clinical care.
Marc S. Williams, MD
David J. Carey, PhD
Dean Parry, RPh