Medications

Ovarian/Uterine Cancer (OvUtCa)

The KPWA/UW-led ovarian/uterine cancer phenotype has been validated at Mayo Clinic, the secondary phenotype development site.  Validation results at both the primary and secondary sites were strong and the phenotype is ready for network wide implementation.  The pseudo code document posted 11/30/2017 is correct as is and should be used by network sites for phenotype implementation.  A validated data dictionary of covariates for this phenotype will be added to PheKB by 2/15/2018, but sites are encouraged to begin implementing the phenotype algorithm now.

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Peripheral Arterial Disease - 2012

Peripheral Arterial Disease (PAD) is prevalent with approximately 10-12 million adults in US affected. For those with PAD, morbidity and mortality are high and quality of life is markedly impaired. The genetic basis of PAD is poorly understood and is the focus of the Mayo Clinic Electronic Medical Records and Genomics (eMERGE) Network study.

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PhEMA BPH (Benign Prostatic Hyperplasia) cases

This is PhEMA (Phenotype Execution Modeling Architecture, projectphema.org)'s implementation of the following BPH (Benign Prostatic Hyperplasia) case algorithm from the following BPH case and control algorithm on PheKB:

https://phekb.org/phenotype/benign-prostatic-hyperplasia-bph

Artifacts for this phenotype, inc. an HQMF representation, a KNIME workflow that can run against an i2b2 instance, and a snapshot of the PhAT graphical representation, are posted on GitHub:

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Post-event Pain algorithm

Pain is a personal, multidimensional experience in which genetic biomarkers has a main role in determining pain sensitivity, perception and tolerance. Pain is a major concern for surgical patients and post-operative pain management still present a major challenge both in inpatient or outpatient settings. Apart from genetic factors, there are many other variables that may affect pain perception for example, pretreated patients may require less post-surgical medications, and they may recover more quickly.

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Red Blood Cell Indices

Laboratory results for ESR and RBC indices (hemoglobin, MCV, MCH, RDW… etc) should be extracted from the Laboratory databases. For Mayo, from January 1994 till October 2009, ESR and RBC test results were populated for our 3336 participants. All samples were collected on an outpatient basis. Samples collected during an inpatient hospitalization (admit date ≤ collection date ≤ discharge date) should be excluded unless this sample was the only one available for a patient.

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Rheumatology Auto-Immune characteristics

Dear,

To identify cases with auto-immune rheumatologic phenotye (for  NT198) we request information about auto-antibody (whether it was tested and what the restults were) and drug information (whether it was prescribed) for each patients that is enrolled in eMERGE. We are requesting every mention of any of the expanded generic drugs.

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