Exome Analysis for Rare Diseases Program
Program Description
The IIHG Exome Analysis for Rare Diseases Program is intended for healthcare providers in the State of Iowa who see patients with interesting phenotypes of unknown etiology. The goal is to develop a partnership to identify novel disease-causing genes. The IIHG accepts applications on a rolling basis. Applications are reviewed and prioritized by the following criteria:
- Clinical interest
- Rationale for believing there may be a genetic contribution or predisposition to the disease
- Potential national interest
Health Care Provider Contributions
- Identify potential patients and families with interesting phenotypes
- Complete the one-page online application form and pedigree
- Provide phenotypic and clinical expertise to assist the IIHG in data analysis and interpretation of results
- Identify a collaborator in a Basic Science Department
- Present at Grand Rounds in home department*
- Publish the study as a case report
IIHG Contributions
- Evaluate and prioritize applications (not all applications are accepted)
- Analyze the pedigree to determine study design
- Assist healthcare provider in obtaining patient consent
- Provide all reagents, perform exome captures, sequencing and bioinformatics analysis
- Generate final variant list for review with healthcare provider to identify possible pathogenic variants / disease-causing gene
- Assist healthcare provider in presenting results to patient and family and provide genetic counseling
- Assist the healthcare provider in developing Grand Rounds
- Evaluate findings for possibility of diagnostic test development
Patient Involvement
- Agree to participate in study
- Family members agree to participate in study
- Meet with IIHG genetic counselor prior to and after study
- Sign consent
- Donate blood or saliva sample
- Facilitate appropriate follow up and clinical studies with extended family if necessary
*The Grand Rounds presentation should focus on the disease presentation, diagnosis, treatment and management with novel insights provided by the family (if applicable); the human genetics aspect of the study by the IIHG should be secondary to the story. The presentation should illustrate how resources of the IIHG are available to all clinicians and that genomic medicine is a powerful tool to complement all of medicine.
Application