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Phenotyping Core
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The Children's Hospital Program in Genomics provides the infrastructure for investigators to carry out projects aimed at phenotyping and genotyping individuals with a particular disease and their family members for genetic studies. The Phenotyping Core of the Program works with GCRC investigators to develop projects and coordinate phenotyping-genotyping studies. The Core provides expertise on phenotyping from geneticists and genetic counselors, data collection, informatics support including database management, and statistical support including statistical geneticists. Professional staff is also available to assist with grant writing.
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Potential investigators consult with the Phenotyping Core Director to discuss the details of the project proposed. Topics to be covered by this interaction include the following:
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- Define and characterize the project
- Identify patient population for study (inclusion and exclusion criteria)
- Establish the criteria for a well-defined phenotype
- Define environmental and lifestyle risk factors to be studied
- Identify studies to be done and what studies are part of "routine clinical care" and which are research
- Determine the most appropriate approach to the genetic analysis (eg. linkage analysis vs. sib-pair analysis, candidate gene approach vs. genome-wide scanning, etc.)
- Create data collection forms
- Create a database for collecting information
- Assist the investigator in obtaining approval from the IRB (based on a template)
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The Phenotyping Core identifies and trains a genetic counselor who will work on the study. The genetic counselor works with the investigator on patient recruitment, informed consent, family history, and data collection. The Phenotyping Core provides space and facilities within the GCRC for patient evaluation, for collecting blood or saliva for genotyping, and for studies to be performed as necessary for phenotyping.
The "flow" of any given study is generally as follows: Patients come to the GCRC for a visit with the genetic counselor to sign a consent form, provide a family history, and have questions addressed. Additional phenotyping information is gathered at that time. The patient then has laboratory tests performed as indicated (for DNA and any other studies needed) and will have other special studies as needed (DXA scan, nutritional evaluation, etc.). Blood or saliva for DNA is processed in the GCRC Core Laboratory, stored, and transferred to the Genotyping Core for genotyping. The Laboratory Director of the Genotyping Core works with investigators to direct the wet lab studies in the directions necessary to obtain short-term and long-term genotypic data. Informatics personnel and statisticians from the CRP or GCRC may assist in database development and data analysis.
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