AoU Research Priorities Use Cases

What is the prevalence of hereditary hemochromatosis in the U.S. population?

Looking for the hereditary hemochromatosis gene (carriers or people who have this recessive disease) in DNA sequencing and blood tests.

 

Testing ferritin, transferritin saturation, TIBC, and iron levels in patient blood labs; testing liver function in patient blood labs; testing chemical panel with glucose in patient blood labs; testing CBC in patient blood labs; testing lipid panel (cholesterol, triglycerides, HDL, and LDL) in patient blood labs.

The remaining questions allow you to outline in more detail the information needed to address your research question. The series of questions allow up to five entries. If you have more than five entries, please try to prioritize them and enter the remainder in the final field. When done, click Submit at the bottom. Yes

Select your required Data Item #1, which is most important to your study. This would be an item that needs to be generated and collected from different sources using various procedures, tools, techniques, assays, etc. If not in the current selection, please enter it in the textbox below. Genome

By what method will Data Item #1 be obtained? This may Include procedures, tools, techniques, assays, and analytical approaches for the collection, measurement, or analysis of data. If you do not find the required method, you may enter it in the textbox below. Whole Genome Genotyping (WGG)

Are there specifications that apply to the method by which Data Item #1 will be obtained, e.g., is the measurement taken once a year, every month, or some other variation? If you do not find your specification in the dropdown, you may enter it in the textbox below. Continuous monitoring

Data Item #2 Genome

Method #2 Whole Exomic Sequencing (WES)

Specification #2 Continuous monitoring

Data Item #3 History, family

Method #3 Physical exam

Specification #3 Include child, teenager, early adult, adult, elderly

Data Item #4 Genome

Method #4 Whole Genome Sequencing (WGS)

Specification #4 Continuous monitoring

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Idea No. 602