Many women with breast cancer eligible for genetic testing do not undergo it
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Key takeaways:
- Many women with breast cancer who meet criteria for genetic testing do not receive it.
- Detection of a positive genetic variant increased the likelihood that women would discuss test results with family members.
Many women diagnosed with early-stage breast cancer did not receive genetic testing, even though they met criteria for it, according to study findings.
However, among women who underwent testing, those who had a pathogenic variant discussed results with family members at a significantly higher rate than those found to have no variant or a variant of unknown significance.
“Our findings support a rapidly growing movement to simplify clinical guidelines to increase access to genetic testing and clinical impact of the results after diagnosis and into survivorship,” Steven J. Katz, MD, MPH, professor of internal medicine and of health management and policy at University of Michigan, said in a press release.
Background and methods
Clinical guidelines regarding genetic testing have expanded eligibility criteria for women with breast cancer. The number of genes being tested for has increased, as well, according to study background.
“Genetic risk evaluation and testing can fall through the cracks during survivorship as patients’ needs for ongoing treatments, managing the side effects of treatments, and monitoring for recurrence or progression grow,” Lauren P. Wallner, PhD, MPH, associate professor of internal medicine and epidemiology at University of Michigan, said in the release.
Researchers used the Georgia and Los Angeles County SEER registries to build a cohort of 1,412 women aged 20 to 79 years diagnosed with early-stage breast cancer in 2014 or 2015.
Investigators surveyed women about genetic counseling and testing, as well as their communication with family members regarding test results at 7 months and 6 years following diagnosis.
Results and next steps
About half (47.9%) of women had indications for genetic testing (28% at baseline; 19.4% only during follow-up surveys).
Women who had an indication at baseline underwent testing at a higher rate (71.9%) than those who had an indication only at follow-up (53.3%) or those who never had an indication l (35%).
Genetic testing rates did not differ significantly based on race or ethnicity.
An analysis of women who underwent testing showed those who tested positive for a pathogenic variant more often discussed their test results with a first-degree family member (62.7%) than women whose tests revealed a variant of unknown significance (38.8%) or those who tested negative (38%; P < .001).
Few women used direct-to-consumer testing (3.4%).
Katz and colleagues plan future research to investigate how primary care providers and oncologists coordinate survivorship care.
“Our findings reinforce the need for novel approaches to genetic risk evaluation and testing in practice to target prevention and early detection strategies for their patients and their families,” Allison W. Kurian, MD, MSc, professor of medicine and epidemiology and population health at Stanford Medicine, said in the release.
References:
- Katz SJ, et al. J Clin Oncol. 2024;doi:10.1200/JCO.24.00122.
- Many breast cancer survivors don’t receive genetic testing, despite being eligible (press release). Available at: https://www.michiganmedicine.org/health-lab/many-breast-cancer-survivors-dont-receive-genetic-testing-despite-being-eligible. Posted July 16, 2024. Accessed July 26, 2024.
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