JCO Oncology Practice: Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas (Tomlinson Lab, Ignatius Lab)

Stephanie Soewito, BS, MS¹; Rachel Wyatt, MS²; Emily Berenson, MS²; Natalie Poullard, MS, MA³; Shawn Gessay, MS^2,3,4; Lindsey Mette, MS, MPH^2,3,5; Elena Marin, CHW⁶; Kristin Shelby, BA⁶; Elise Alvarez, BA³; Byeong Yeob Choi, PhD⁷; Clarissa Aviles, MSHS⁶; Anna Maria Pulido-Saldivar, MPH^6,8; Pamela M. Otto, MD⁹; Ismail Jatoi, MD^3,10; Chethan Ramamurthy, MD³; Myron Ignatius, PhD⁶; Virginia G. Kaklamani, MD, DSc³; and Gail E. Tomlinson, MD, PhD^2,3,6

PURPOSE:
Racial and ethnic disparities have included a lack of access to both genetic testing and research, resulting in poor understanding of the genomic architecture in under-represented populations. The South Texas population is primarily of Hispanic background and has been largely devoid of genetic services. We extended access to this underserved population and uncovered genetic variants previously not observed, emphasizing the need to continually improve both genomic databases and clarification of variant significance to provide meaningful patient counseling.
METHODS:
This study consisted of a retrospective cohort review of patients seen through a cancer genetics education and service program across 24 counties in South Texas. 1,595 individuals were identified as appropriate for cancer genetic counseling and 1,377 completed genetic testing.

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