Iowa Institute of Human Genetics

  • Exome Analysis for Rare Diseases Program

    As this is a competitive application process it is strongly recommended the referring clinician thoroughly complete the application.

    Program Description

    The IIHG Exome Analysis for Rare Diseases (EARD) Program is intended for healthcare providers in the State of Iowa who see patients with interesting phenotypes of unknown etiology. The IIHG will provide genetic expertise and complete whole exome sequencing with data analysis and interpretation at no cost to the clinician or family. The clinician must provide phenotypic expertise and attend a multidisciplinary team meeting after the data analysis has been done. The goals of the program are the following:

    • To provide clinicians an opportunity to learn about whole exome sequencing and personalized genomic medicine – both its power and its limitations
    • Develop a partnership to identify novel disease-causing genes, which may serve as a possible source of preliminary data for more in depth/extended studies
    • Help families 

    The IIHG accepts applications on a rolling basis. This is a competitive application process. Please read all of the instructions before completing the application. 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 application form and pedigree*
    • Present to the IIHG selection committee why you would like the family studied (a 5 minute presentation)
    • If selected for the program, collect the samples from family members for testing
    • Provide phenotypic and clinical expertise to assist the IIHG in data analysis and interpretation of results at a multidisciplinary team meeting after the data analysis has been done
    • Present at Grand Rounds in home department**
    • Reference the IIHG if results are published

    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
    • Perform symptom-guided analysis of variants
    • Review final variant list with healthcare provider to identify possible pathogenic variants or a disease-causing gene
    • Assist healthcare provider in providing results and genetic counseling to patient and family
    • 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
    • Optional: 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 family if necessary

    **The Grand Rounds presentation will focus on the disease presentation, diagnosis, treatment and management with novel insights provided by the family if applicable, the human genetics will be secondary to the story. The presentation will demonstrate how the resources of the IIHG are available to all clinicians and that genomic medicine is a powerful tool to complement all of medicine.

    Application