Implementation of CCEGA Kirk C. Wilhelmsen Department of Genetics and Neurology

Background and Assumptions The era of massively parallel genetic analysis has begun Hypothesis generated analysis needs to be complimented by exploratory hypothesis generating research Cross disciplinary expertise is needed Most studies have not designed with the intent of trying to share information between projects or with best practices

Barriers to Efficient Data Use Information Tower of Bable ELSI/IRB limitations of data sharing Culture of autonomy –Redundant development e.g. Proprietary data formats for analysis –Best practices not always used

Design Ascertainment Sample CollectionPhenotype Collection Laboratory Processing GenotypeLaboratory Phenotype collection Primary & Exploratory Analysis Result VisualizationHypothesis Generation Genetic Studies Informatics ELSI

In Practice Clinical Laboratory Analysis Typically three independent groups Many groups work on different projects Each group has independent informatics effort

Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Clinical Laboratory Analysis Most projects independent of others Groups have different strengths Redundancy of development efforts

Issues: Clinic to Lab Clinical Laboratory Analysis Variable compliance HIPPA/ELSI issues e.g. Use of PHI in labs e.g. Sharing non-paternity data with clinic Independent data management identifiers for subjects

Issues: Lab to Analysis Clinical Laboratory Analysis Independent data management Data version control Redundancy

Issues: Clinic to Analysis Clinical Laboratory Analysis Variable compliance HIPPA/ELSI issues Unmonitored use of PHI Independent data management Data version control Redundancy

Informatics Clinical Laboratory Analysis

Informatics Clinical Laboratory Analysis Advantage Reduced redundancy and increased efficiency Reusable infrastructure Encourage best practices Facilitate data sharing Increase cooperation Change culture Cross training Facilitate HIPPA/IRB compliance Facilitate exploratory genetic analysis Disadvantages Loss of autonomy Conformance with standards Potential for forced data sharing

Goals Develop the preliminary data to apply for a P50 to create the CCEGA Deliverables –Develop a protocol for prospective using ongoing studies as examples to define best practices –Develop a prototype informatics infrastructure –Demonstrate the utility of data mining with established project –Facilitate use of best practices for existing projects –Develop an environment for cross training each other and trainees

Working Groups ELSI Exploratory Analysis –Association Proteomics and Transcriptional Profiling Case Control – Family Informatics Integration

Goals For Working Groups Have fun and keep having fun Enrich each others work through collaboration and education –Develop pilot projects Educate other groups –Workshops –colloquia Educate Trainees –Establish tutorials –Train through participation in projects Get Preliminary Data for P50