false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Comparison of diagnostic outcome amongst different ...
Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami Clinical Site
Back to course
Pdf Summary
This document discusses the racial and ethnic breakdown of participants in the Undiagnosed Disease Network (UDN) at the University of Miami (UM). The UDN aims to provide resources to individuals with undiagnosed disorders, particularly those in underrepresented populations. The study found that nearly 50% of UM UDN participants belonged to minority racial/ethnic backgrounds, highlighting the importance of including diverse populations in genetic studies. <br /><br />The diagnostic rate among participants of all races/ethnicities, excluding white; not Hispanic or Latino participants, was slightly higher. Age was found to be the greatest indicator of the likelihood of identifying a diagnosis, regardless of race/ethnicity. Additionally, individuals with a neurological phenotype had the highest success rate in being diagnosed, regardless of race or ethnicity. This suggests that whole genome sequencing is an effective tool in diagnosing rare and undiagnosed conditions, regardless of an individual's ethnicity.<br /><br />The document emphasizes the need for equitable access to genetic analysis and genetic studies for historically underrepresented groups. The study at UM UDN is part of a larger effort to include diverse populations in genetic research, and future directions include expanding the research to include all UDN sites nationwide. The study was supported by an NIH grant.<br /><br />Overall, this study highlights the importance of diversity in genetic studies and demonstrates the effectiveness of whole genome sequencing in diagnosing rare and undiagnosed conditions. The goal is to improve access to resources for individuals with undiagnosed disorders in underrepresented populations.
Asset Subtitle
Presenting Author - Stephanie A. Bivona, MS; Co-Author - Mustafa Tekin; Co-Author - Guney Bademci, MD, FACMG; Co-Author - Carson Smith; Co-Author - LeShon A. Peart, MD; Co-Author - Brittney Johnson, BS; Co-Author - Joanna Gonzalez, MS; Co-Author - Nicholas Borja, MD; Co-Author - Paulo Borjas-Mendoza, MD; Co-Author - Irman Forghani, MD; Co-Author - Deborah S. Barbouth; Co-Author - Kumarie Latchman, DO; Co-Author - Willa Thorson, MD; Co-Author - Shengru Guo, MS; Co-Author - Stephan Zuchner, PhD, MD;
Meta Tag
Genetic Diversity
Genome sequencing
Population Genetics
Variant Detection
Co-Author
Mustafa Tekin
Co-Author
Guney Bademci, MD, FACMG
Co-Author
Carson Smith
Co-Author
LeShon A. Peart, MD
Co-Author
Brittney Johnson, BS
Co-Author
Joanna Gonzalez, MS
Co-Author
Nicholas Borja, MD
Co-Author
Paulo Borjas-Mendoza, MD
Co-Author
Irman Forghani, MD
Co-Author
Deborah S. Barbouth
Co-Author
Kumarie Latchman, DO
Co-Author
Willa Thorson, MD
Co-Author
Shengru Guo, MS
Co-Author
Stephan Zuchner, PhD, MD
Presenting Author
Stephanie A. Bivona, MS
Keywords
racial breakdown
ethnic breakdown
participants
Undiagnosed Disease Network
resources
undiagnosed disorders
underrepresented populations
genetic studies
whole genome sequencing
equitable access
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
×