New research highlights racial differences in genomic profiling


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A new study by researchers at the Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine found that black women with metastatic breast cancer were less likely to develop tumors with treatable genetic differences than white and Asian women. The paper, the largest to study racial differences in breast cancer genotyping, was published in JAMA Network is open.

“We know that minorities have historically been less likely to be enrolled in genetic studies,” said surgical oncologist Neha Goel, author of the first research paper. “We wanted to see if having fewer of these women in these studies creates disparity in how we practice precision medicine. In this case, that certainly happens.”

Doctors often refer to cancer-causing genomic variants as actionable or not. An actionable mutation contains an FDA-approved drug that can modify it. However, with genomic information on black and other minority women so scarce, researchers may not know which genetic differences to target therapeutically in these groups.

To examine the problem, Dr. Joel and colleagues analyzed data from the AACR Project Genie Consortium, one of the largest and most diverse genomic databases. The team studied 6,652 patients with primary or metastatic breast cancer.

They found that black patients with metastatic cancer had fewer actionable mutations. One example is PIK3CA, an enzyme commonly mutated in breast cancer, which leads to tumor growth. Clinical trials have shown that a single PIK3CA inhibitor (alpelisib) improves progression-free survival. However, this drug is unlikely to be offered to black women because the population has fewer PIK3CA mutations, and there is currently no alternative.

Dr. Joel believes that these findings underscore the harms that occur when genomic studies favor a homogeneous, mostly white population. “If we don’t look at these potential mutations in a diverse group of patients, we won’t necessarily know to include them in drug development and clinical trials,” she said. “It ceases to be precision medicine if there are wide gaps between the different ethnic groups. “

The team hopes this work will serve as a wake-up call for the life sciences industry to embrace more diverse genetic studies and identify workable and cancerous mutations in the entire population.

“where genome studies It has historically underrepresented black and non-white breast cancer patients, we need to do more to increase minority enrollment. that are unique to these populations, and we can begin a long process of developing targeted therapies for them.”

The study indicates that there are discrepancies in genomic data between ethnic groups

more information:
Neha Goel et al, Ethnic differences in genomic profiles of breast cancer, JAMA Network is open (2022). DOI: 10.1001 / jamanetworkopen.2022.0573

Presented by Sylvester Comprehensive Cancer Center

the quote: New research highlights racial disparities in genomic profiling (2022, 25 April) Retrieved 25 April 2022 from

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