Using research tools, Geisinger Health System is looking for new ways to prevent and treat health problems. This page offers a brief introduction to some of the research projects and studies that Geisinger researchers are conducting that span across the institution. For a more complete picture, please see the individual institutes and departments.
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to determining which genetic variants are most relevant to patient care by harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each year, as well as supporting expert curation of these data. In 2013, the National Human Genome Research Institute (NHGRI) along with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Cancer Institute (NCI) awarded over $25 million to support a consortium of research groups to design and implement a framework for evaluating which variants play a role in disease and those that are relevant to patient care. The groups will work closely with the National Center for Biotechnology Information (NCBI) of the National Library of Medicine (NLM), which will distribute this information through its ClinVar database. Learn about each of the groups involved in the ClinGen Resource, their individual charges and their collaborative efforts.
As part of PCORnet, Geisinger researchers are partnering with Parent Project Muscular Dystrophy (PPMD), a parent-led foundation that funds DuchenneConnect, a patient-report registry for people with Duchenne and Becker muscular dystrophies.
Geisinger is one of nine sites that make up the electronic Medical Records and Genomics (eMERGE) Network, which uses genomics, statistics, ethics, informatics and clinical medicine to study the relationship between genetic variations and common human traits.
At Geisinger Health System, GenomeFIRST™ Medicine has been launched to provide options for care based on an individual's DNA sequence. It will be applied in some important settings (for example in addressing some cancer risks) without waiting for the emergence of a clinical phenotype.
Learn More: Overview
Genetic research holds great promise to increase understanding of the causes of diseases, disorders and medical conditions - including conditions that today have limited or no treatments available. By comparing genetic information against medical histories, Geisinger and Regeneron hope to eventually develop new means of diagnosing, preventing and/or treating medical conditions - before they cause significant harm. Some participants may also receive information that could be useful in their own medical care.
Learn More: Overview
The Health Care Systems Research Network (HCSRN) is a consortium of 19 integrated health systems and health maintenance organizations - and more than 1,400 scientists and research staff - with electronic medical records that use population-based research to improve healthcare. The HCSRN has a virtual data warehouse that supports research studies on cancer, drug safety, cardiovascular disease, mental health and other issues, while also protecting patient privacy and proprietary interests.
In order to improve the diagnosis, treatment and care of children with neurodevelopmental disorders, including autism spectrum disorders and other conditions, we must develop a deeper understanding of our patient population. The purpose of this project is to perform additional studies (such as behavioral, speech, neurological and developmental assessments) outside the scope of standard clinical care on patients (and occasionally their family members, as needed) in order to better characterize their symptoms, the reason(s) for their symptoms or both. This information will contribute to our knowledge base regarding neurodevelopmental disorders, and help us to better care for our patients now and in the future.
National estimates regarding the health impact of pediatric obesity are staggering. Pediatric obesity prevention and treatment research in Geisigner Health System involves Janet Weis Children's Hospital, Pediatrics, Center for Clinical Innovations, Obesity Institute, eHealth, Strategic Industry Partnerships, Genomic Medicine Institute, Environmental Health Institute and Center for Health Research.
Rare copy number variants (CNVs) have been associated with many neurodevelopmental disorders, including autism, epilepsy and developmental and intellectual disabilities. The Mechanisms and Consequences in Neurodevelopmental Disorders project studies the genomic locations of these CNVs, identifies the molecular mechanisms of their formation and describes the physical characteristics, or phenotypes, found in them to better understand the conditions and search for the responsible genes.
The MyCode® Community Health Initiative has consented more than 112,000 Geisinger patients who will provide blood and/or tissue samples to be genetically sequenced. That data will be combined with each participant's medical record to provide Geisinger researchers with information to investigate new approaches to disease control, diagnosis and treatment.
Researchers are working with patients and their families on how to provide information from whole genome sequencing of children with undiagnosed diseases that cause intellectual disabilities. Researchers have found that patients and their families want access to the often complex information so that they can take a more active role in the management of their child's condition.
Sponsored by the New York-based Simons Foundation, the Simons Variation in Individuals Project (SVIP) strives to identify and study a large number of individuals with recurrent genetic variations that are often found in people with autism, autistic features and other neurodevelopmental disorders. Geisinger is one of seven research sites in the project.
Patients with complex, undiagnosed medical conditions have been recruited by Geisinger's Genomic Medicine Institute to participate in a clinical Whole Genome Sequencing program designed to end the diagnostic odyssey by helping to diagnose the condition and improve their healthcare.