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2023 ACMG Annual Clinical Genetics Meeting Digital ...
What's Trending: Comparing Variant of Uncertain Si ...
What's Trending: Comparing Variant of Uncertain Significance (VUS) Rates in Cancer Predisposition Genes Over Time in Black and White Individuals
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Pdf Summary
This study explores disparities in genetic testing results between Black and White individuals in the context of cancer predisposition genes. The study found that Black individuals had higher rates of variant of uncertain significance (VUS)-only results compared to White individuals, despite higher rates of reclassification in Black individuals. The analysis included a cohort of Black and non-Hispanic White adults who underwent germline multigene panel testing. The results showed that Black individuals had a higher frequency of VUS-only results and a lower frequency of positive results compared to White individuals. The study also revealed that certain well-established cancer-risk genes showed a significant decrease in VUS rates over time for both Black and White individuals. However, less well-characterized genes demonstrated more nuanced reductions in VUS rates. The analysis also showed that Black individuals had more unique instances of VUS reclassifications over time compared to White individuals, with a significant number of VUS being downgraded to benign/likely benign. The findings highlight the persistence of disparities in genetic testing results, but also suggest that there is an increasing understanding of normal variation in the Black population. Removing barriers to testing for all populations is crucial in increasing testing rates and normalizing variation across race and ethnicity groups. Overall, the resolution of VUS enables precision therapies, risk reduction strategies, and evaluation of at-risk family members, underscoring the importance of addressing disparities in genomic databases and medical literature.
Asset Subtitle
Co-Author - Rachel Wyatt Castillo, MS; Presenting Author - Gail E. Tomlinson, MD,PhD; Co-Author - Sarah Nielson, MS, CGC; Co-Author - Elaine Chen, PhD; Co-Author - Brandie Heald, MS; Co-Author - Edward D. Esplin, MD, PhD, FACMG, FACP;
Meta Tag
Clinical History
Genetic Diversity
Genetic Testing
NextGen Sequencing
Phenotype
Risk Assessment
Sequencing
Variant Detection
Co-Author
Rachel Wyatt Castillo, MS
Co-Author
Sarah Nielson, MS, CGC
Co-Author
Elaine Chen, PhD
Co-Author
Brandie Heald, MS
Co-Author
Edward D. Esplin, MD, PhD, FACMG, FACP
Presenting Author
Gail E. Tomlinson, MD,PhD
Keywords
disparities
genetic testing
Black individuals
White individuals
variant of uncertain significance
reclassification
germline multigene panel testing
positive results
VUS rates
normal variation
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