Invitae to Present Data at the American Society of Human Genetics Annual Meeting Furthering the Understanding of Variants of Uncertain Significance in Underrepresented Populations
Invitae (NYSE: NVTA), a leading medical genetics company, will present data from its genetic testing portfolio at the American Society of Human Genetics Annual Meeting taking place in Los Angeles, Calif., October 25-29, 2022. Researchers from Invitae will highlight the importance of monitoring and addressing variants of uncertain significance (VUS) when it comes to underrepresented populations and the implications about how broadening access and participation in genomics research is paramount to addressing health inequities
– Presentations provide additional insights into the critical importance of advancing equity in genomics –
SAN FRANCISCO, Oct. 28, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, will present data from its genetic testing portfolio at the American Society of Human Genetics Annual Meeting taking place in Los Angeles, Calif., October 25-29, 2022. Researchers from Invitae will highlight the importance of monitoring and addressing variants of uncertain significance (VUS) when it comes to underrepresented populations and the implications about how broadening access and participation in genomics research is paramount to addressing health inequities.
The company's research includes two platform presentations and one CoLab session co-presented with partner Illumina discussing the barriers and solutions to expanding access to genetic testing and research. Among the data being presented is a study sharing a deeper understanding of the variants of uncertain significance (VUS) reporting landscape and offering best practices for labs and clinicians to determine clearly defined actions that clinicians and patients can consider when VUS are reported.
Variants of uncertain significance have been a challenging topic for both clinicians and laboratories, as there is confusion and inconsistency about how they are reported and what follow up is needed to resolve the significance. This is further complicated with questions about the overall utility of existing population data given that there are limited data sets that include underrepresented populations. The study analyzed data from more than 2 million individuals, with ~22% from underrepresented populations, individuals with self-reported Black/African American, Asian or Hispanic ancestries, and illuminates trends across clinical areas, different gene panel sizes, variant types and differences associated with reported race and ethnicity.
