Laboratories
Autoimmune Disease Phenotype
Autoimmune diseases (AID) refer to destructive conditions involving an aberrant chronic activation of the adaptive immune system, where the immune cells instead of producing antibodies to attack foreign invaders, mistakenly attack the body’s own healthy cells. While autoimmune diseases are heterogeneous according to symptoms, lesion types, and prognosis, and are usually studied in isolation according to groups based on organ system; various autoimmunity diseases share similar immune effector mechanisms. Recent genetic studies suggest that many autoimmune and chronic autoinflammatory condi
Breast Cancer
Breast cancer is the most common cancer and the second leading cause of cancer-related death among women in the U.S. Known breast cancer risk factors include age, race/ethnicity, reproductive factors, and benign breast disease. Family history of breast cancer and hereditary cancer syndromes, such as BRCA1/BRCA2 mutations, confer the strongest risk for this disease.
caMRSA
This algorithm is for community associated MRSA (Methicillin-resistant Staphylococcus aureus, read more at http://en.wikipedia.org/wiki/MRSA). Note this algorithm will use lab results and not ICD-9 codes, as ICD-9 codes are not specific enough for this algorithm and/or are not used consistently for this phenotype. Thus, we expect the actual number of cases to be higher than what the eMERGE RC (Record Counter) estimated, and, as we will be studying patients aged 0 to 89, we would like for all sites to participate, please...
Cardiac Conduction (QRS)
Algorithm to select subjects with "normal" electrocardiograms. Subjects do not have heart disease, interfering medications, or abnormal electrolytes at the time of the normal ECG. Individuals may, however, develop abnormalities later in life.
Hypothetical timeline for a single patient:
Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype)
Please refer to attached documents.
Chronic Kidney Disease
Chronic kidney disease (CKD) is defined as an abnormality of kidney structure or function present for longer than 3 months. CKD can occur as a result of heterogeneous disorders affecting the kidney. In the United States, an estimated 13.6% of adults have CKD. Notably, adjusted mortality rates are higher for patients with CKD than those without, and rates increase with CKD stage. The purpose of this algorithm is to enable accurate CKD diagnosis and staging based on EHR data.
Clopidogrel Poor Metabolizers
Note: Attached documents contain full case definition and two different control definitions. One is for controls with 2 years of follow up, the other for controls with 1 year of follow up. All available controls with 2 years of follow up were used in Vanderbilt's study. The control population was supplemented by controls with only 1 year of follow up. At the time of study, many of the available controls had experienced their qualifying events somewhat recently and 2 years had not yet passed for full follow up.