Genomic Resources for Enhancing Available Therapies (GREAT1.0) Study

Genomic Resources for Enhancing Available Therapies (GREAT1.0) Study

This is a prospective, descriptive, observational research study designed to observe and document the clinical practice by domain experts, and how the knowledge of new findings that are published in the medical literature affect clinical decision making.

The study will evaluate risk factors and co-variants, including genetic variants that are associated with disease progression such as pain, inflammation, organ dysfunction, disability and quality of life.

The Genomic Resource to Enhance Available Therapies (GREAT1.0) Study is a research program for personalized medicine. It is a highly annotated genetic and biosample resource for multiple nested observational cohort studies. It is designed to begin to understand the mechanisms underlying complex diseases using clinical information from the UPMC electronic health record (EHR), from case-report forms, and from biological samples.

Aim 1. To test the hypothesis that point-of-care electronic health record (EHR)-based phenotyping and clinical measures will be useful for classifying patient by disease risk, subtype, activity, complications, quality of life or using statistical or systems approaches.

Aim 2. To test the hypothesis that common diseases can be subtyped using genotype data.

Aim 3. To test the hypothesis biological samples will provide additional functional and mechanistic information about subject health, disease or state.

The study will be conducted using UPMC patients and population controls. Consent will allow EHR and/or case report form data, plus biological samples to be given a unique code number and transferred to researchers for analysis. Consent will also allow for a secure link to be maintained allowing the research data or samples to be updated, and to contact the clinical team and/or subject to provide them with additional information.

Inclusion Criteria:

Case Subjects

• Clinical diagnosis of a chronic disease or disorder (ex. pancreatitis, hepatitis or fatty liver, inflammatory bowel disease, irritable bowel syndrome, diarrhea, constipation, chronic pain syndromes, diabetes, hypertension, cardiovascular disease, chronic kidney disease, chronic neurologic disorders, rheumatological disorders, endocrine disorders, chronic pulmonary diseases, sinorespiratory disorders, chronic skin diseases, cancers and related disorders)
• Ability to read and write in English;
• Ability to provide informed consent

Control Subjects

• UPMC patients age 12 years without a chronic disorder.

Exclusion Criteria:

• Chronic infectious disease as the primary medical problem
• Less than 12 years of age
• Inability of the subject to understand the protocol
• Inability to the subject provide informed consent