According to the latest Mayo Clinic study published in NJ Precision Oncology, the minority population in the public genome database is less representative and may affect the treatment options for black cancer patients.
The researchers investigated the use of the genome database and found that the burden of tumor mutations in black patients was significantly increased compared with white patients.
The result of this study is that clinicians using public genome databases need to be aware of the possible increased tumor mutation burden and how this may affect treatment options and outcomes, especially for underrepresented patients.
Clinicians use biomarkers (an indicator of a disease or condition) to determine whether a patient can benefit from immunotherapy, which is a therapy used to treat cancer. One of these biomarkers is the tumor mutation burden, the number of mutations in the tumor compared with normal cells. Most of the time when calculating the tumor mutation burden, normal cells are not used, and the mutation genome database or algorithm is used to filter the results.
The research team collected data on 701 patients newly diagnosed with multiple myeloma, including 575 self-reported white patients and 126 self-reported black patients. The research team analyzed the DNA of the patient's tumor cells and healthy cells to determine the differences. The research team paired tumor and germline exome sequencing data to analyze the differences between the two DNA sources. Then they used public databases to screen out mutant variants from tumor sequencing data.
At present, the FDA has approved a threshold of more than 10 mutations per megabase of DNA to select patients for immunotherapy.
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