2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Using the Alabama Genomic Health Initiative to identify factors that influence the variable expressivity and reduced penetrance of hemochromatosis

Using the Alabama Genomic Health Initiative to identify factors that influence the variable expressivity and reduced penetrance of hemochromatosis

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The Alabama Genomic Health Initiative (AGHI) is a state-supported research project that aims to identify individuals at risk for genetic disorders through population screening. The project involves adult volunteers who provide a blood sample for genotyping and receive genetic counseling. The data collected from the participants, including genetic information and electronic health records, are deposited in the i2b2 database for research purposes. The AGHI is being used to study the variable expressivity and reduced penetrance of hemochromatosis, a condition characterized by excessive iron absorption.<br /><br />In this study, the researchers focused on individuals homozygous for the common HFE C282Y pathogenic variant, which is associated with hemochromatosis. They identified 26 individuals with this variant and correlated them with clinical diagnoses of hemochromatosis using ICD10 codes or clinical signs such as liver or cardiac disease. They also analyzed lab values such as serum transferrin saturation, serum ferritin, iron levels, and hemoglobin A1C.<br /><br />Preliminary findings show that out of the 26 individuals with the homozygous C282Y variant, six have been clinically diagnosed with hemochromatosis. However, there are cases where patients do not have a documented hemochromatosis diagnosis but still exhibit lab findings and relevant diagnoses suggestive of the disease. The research team aims to compare the diagnoses and lab values between those with and without documented hemochromatosis to better understand the penetrance of symptoms related to the condition.<br /><br />The ultimate goal of the study is to inform the use of the AGHI and i2b2 in the screening and care of individuals with genetic disorders of variable penetrance. By studying a well-understood disease like hemochromatosis, the researchers hope to improve the precision of care and screening for individuals with similar conditions. The AGHI is funded by the state of Alabama.

Asset Subtitle

Presenting Author - Jacob Greenway, BS; Co-Author - Bruce R. Korf; Co-Author - Anna CE. Hurst, MD;

Meta Tag

Bioinformatics

Databases

Genome sequencing

Co-Author Bruce R. Korf

Co-Author Anna CE. Hurst, MD

Presenting Author Jacob Greenway, BS

Keywords

Alabama Genomic Health Initiative

population screening

genetic counseling

i2b2 database

hemochromatosis

HFE C282Y pathogenic variant

ICD10 codes

clinical diagnoses

lab values

variable penetrance