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Sema4 to Study Precision Oncology Disparities in Nationwide Biobanking, Genomic Profiling Study

NEW YORK – Sema4 said on Wednesday that it has expanded a national observational study to address disparities in cancer treatment through comprehensive genomic profiling.

The study, dubbed REPRESENT, will enroll an estimated 5,000 patients with advanced cancers across 10 sites, two of which are already operating in North and South Carolina with 226 patients enrolled. A key criterion of the study is that a minimum of 30 percent of patients enrolled at each trial site are from underserved minority communities.

Investigators will collect data and samples to establish a clinico-genomic registry and biobank while using Sema4's suite of next-generation sequencing assays, Sema4 Signal, to analyze samples for actionable insights. The firm will also perform its whole-exome and -transcriptome sequencing, hereditary cancer, liquid biopsy, and pharmacogenomic tests. Ultimately, the hope is, researchers will be able to assess the prevalence of actionable biomarkers, driver mutations, germline alterations, and social determinants of health among a diverse patient population.

Importantly, if the Sema4 tests reveal an actionable biomarker or mutation that makes a patient eligible for a specific treatment or clinical trial, Sema4 researchers will contact that patient to inform them.

The resulting information from the tests will add to what Sema4 hopes will become one of the most diverse clinico-genomic datasets that will also include information on patients' social determinants of health, ideally allowing Sema4 to identify factors contributing to cancer disparities among underserved patient populations, including socioeconomic and genetic factors. Through the data they collect and the testing they provide, the investigators seek to answer whether increased access to precision oncology among underserved patient populations can reduce disparities.

"The first step to answering this question is to create a dataset and biobank that reflect the United States' true diversity," Sema4 CEO and Founder Eric Schadt said in a statement, adding that the firm is "committed to partnering with community-based oncologists to democratize access to somatic and germline testing in underserved communities."