Addressing Racial Disparity in Genetic Testing


While our understanding of cancer genetics has advanced since the discovery of the BRCA1 and BRCA2 genes in the mid-1990s, the majority of genetics data has been collected from individuals in the Caucasian and European populations. For example, in the Exome Aggregation Consortium (ExAC), a publicly-available research database of sequencing data from over 60,000 individuals, only ~5,000 samples are from individuals of African-American or Latino descent each. This means that African-Americans only represent ~8% of the data within ExAC, while they represent close to 14% of the overall population of the United States. Due to this sample bias, less is known about the mutation spectrum that increase the risk of cancer in the African American, Latino and Asian populations.

Over the past two decades our understanding of how genetics affects risks for cancer in the Caucasian and European populations has come a long way. For example, research studies focused on Ashkenazi Jewish population have revealed the existence of three common founder mutations and found that 1 out of 40 individuals in this population carries a mutation in the BRCA1 and BRCA2 genes. Based on these findings, the National Comprehensive Cancer Network now recommends BRCA1 and BRCA2 testing for any individual of Ashkenazi Jewish descent who has at least one family member with breast or ovarian cancer.

There is an urgent need to fill the diversity gap in genetics knowledge for African American, Latino and Asian populations. To address this, Color is partnering with leading research teams and clinics across the globe to make genetic information for hereditary cancer risk accessible. By publicly sharing the data from this research, we hope to improve society’s collective understanding of how genetics impacts different populations’ cancer risk.

To begin, we are collaborating with the UCSF Center for BRCA Research on the Population Health And Cancer Testing (PHACT) Study. Our team has partnered with Dr. Pamela Munster on a feasibility study to perform population-based genetic testing in the Greater San Francisco Bay Area. Through community outreach events, PHACT is recruiting participants from the under-studied populations of the San Francisco Bay Area. Study participants are given a free Color Test to learn their genetic risk for eight of the most common hereditary cancers: breast, ovarian, uterine, melanoma, pancreatic, prostate, colorectal and stomach. Through the study, all participants will have access to follow-up care at the UCSF Center for BRCA Research. The study aims to recruit 500 participants over the course of the next year. The goals of the study are twofold: to provide genetic tests to individuals who traditionally have not had access to this life-saving information and to publicly share data that improves society’s collective understanding of how our genetics impact cancer risk in different populations.

This past month, we partnered with community leaders in the African American, Latino, and Jewish communities to host three PHACT recruitment events. We were overwhelmed by the volume of support and interest in the study. From these events, we have heard the resounding message that people are excited and engaged to learn about their genetics and to help push this research forward.

This study is just the start. Our team is committed to democratizing access to high-quality genetic information and reducing the racial disparity gaps.

Color clients from different ethnicities have the opportunity to contribute to this mission as well by opting into having their data available for research. To participate in the PHACT study, please email phact@getcolor.com. We are also eager to work with researchers and foundations that are committed to this cause. Centers that would like to participate in our Every Woman Program program, grow the PHACT database and help bridge the ethnic genetics gap can contact us at research@getcolor.com.

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