2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Clinical burden and health behaviors associated with genomic screening for homozygous <em>HFE</em> C282Y variants in an unselected health care system

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A study conducted by Geisinger aimed to compare rates of iron overload and associated phenotypes in individuals with HFE C282Y homozygosity identified through genomic screening to clinically diagnosed patients. The study also assessed the impact of disclosing genetic screening results on health behaviors. Iron overload, caused by Hereditary Hemochromatosis Type 1 (HH1), can lead to end organ damage and is effectively treated through intervention. The study found evidence of underdiagnosis of iron overload and emphasized the importance of population genomic screening to identify individuals with HFE C282Y homozygosity.<br /><br />The study included 201 participants identified through genomic screening and 57 clinically identified controls. Rates of HFE-associated diagnoses such as iron overload, liver disease, hepatocellular carcinoma, and heart disease were compared between the two groups. Females and males with HFE C282Y homozygosity identified through screening had higher rates of iron overload compared to clinically identified cases. Females in the genomic screening group had higher rates of hepatocellular carcinoma, fibrosis, cirrhosis, and chronic liver disease compared to controls, while males had higher rates of hepatocellular carcinoma and fibrosis.<br /><br />The impact of disclosing genetic screening results on health behaviors was also evaluated. Post-disclosure, participants showed increased completion of laboratory tests related to iron overload and increased engagement in risk management behaviors, such as phlebotomy and chelation. The study found that genomic screening results can encourage health behaviors that prevent end organ damage.<br /><br />Overall, the study highlights the benefits of genomic screening for identifying individuals with HFE C282Y homozygosity and preventing the morbidity and mortality associated with iron overload. The findings support the inclusion of HFE C282Y homozygosity in genomic screening programs and emphasize the role of population genomic screening in promoting health behaviors.

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Presenting Author - Juliann M. Savatt, MS, CGC; Co-Author - Alicia Johns, PhD; Co-Author - Marci LB. Schwartz, MS, CGC; Co-Author - Zachary K. Salvati, LGC, MSGC; Co-Author - Nicole M. Ortiz, MS, CGC; Co-Author - Kathryn E. Hatchell, PhD; Co-Author - Adam H. Buchanan, MS, MPH, CGC; Co-Author - Marc S. Williams, MD, FAAP FACMG FACMI;

Meta Tag

Clinical History

Natural History

Phenotype

Population Genetics

Co-Author Alicia Johns, PhD

Co-Author Marci LB. Schwartz, MS, CGC

Co-Author Zachary K. Salvati, LGC, MSGC

Co-Author Nicole M. Ortiz, MS, CGC

Co-Author Kathryn E. Hatchell, PhD

Co-Author Adam H. Buchanan, MS, MPH, CGC

Co-Author Marc S. Williams, MD, FAAP FACMG FACMI

Presenting Author Juliann M. Savatt, MS, CGC

Keywords

iron overload

HFE C282Y homozygosity

genomic screening

clinically diagnosed

Hereditary Hemochromatosis Type 1

end organ damage

underdiagnosis

population genomic screening

liver disease

health behaviors