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Not Enough People Receive Genetic Testing For Cancer, Study Says

Computer-generated image of a DNA double helix.
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Not enough people are getting genetic testing for cancer, according to recent research.

Germline genetic testing, in which inherited DNA is sequenced, is recommended for patients diagnosed with cancer to enable genetically targeted treatment and identify additional relatives who can benefit from personalized cancer screening and prevention. Guidelines recommend this testing for people with cancers including breast, ovarian, pancreatic, colorectal, prostate and others.

Despite the knowledge this could bring to patients and their relatives, researchers found that only 6.8% out of a million patients underwent the testing within two years of receiving a diagnosis. The testing rates were lowest among Black, Hispanic, and Asian patients.

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“We were surprised at the low rates of testing given the growing evidence for the benefits of results for  patients and their families,” said Steven Katz, M.D., M.P.H, Professor of Medicine and Health Management and Policy and leader of the Cancer Surveillance and Outcomes Research Team

“Genetic testing is increasingly important in treatment decision-making after diagnosis of cancer,” said Katz. “Testing the right patients at the right time can better personalize the treatment plan to maximize outcomes. Testing patients can be the gateway to identify hereditary cancer risk in families and offer prevention and early detection strategies that can save lives.” 

Testing has also become more accessible with the advancement of sequencing technology - the number of genes tested that are relevant to treatment and prevention has increased and costs for testing have declined.

“It’s not just about getting a test - it’s about integrating results into cancer management and prevention for patients and their families to save lives,” said Katz.

“We have shown that testing results often come too late to inform cancer management and too many patients with important test findings are left dangling on their own to communicate with their family about really complicated issues. We need to develop, deploy, and evaluate new strategies and tools to ensure that the rapid advances in genetic oncology are put into practice to improve health outcomes for patients and their families.”

Reference: Kurian AW, Abrahamse P, Furgal A, et al. Germline genetic testing after cancer diagnosis. JAMA. 2023. doi: 10.1001/jama.2023.9526

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