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William J. Gradishar, MD, FACP, FASCO
William J. Gradishar, MD, FACP, FASCO
Posted: Thursday, August 8, 2024
Clearly, access to and receipt of genetic testing and counselling are important to inform locoregional and systemic treatment decisions in patients with breast cancer; however, only one-third of eligible breast cancer survivors actually receive it. In a study published in the Journal of Clinical Oncology, researchers examined patient reports of genetic counseling, clinical genetic testing, and use of direct-to-consumer genetic testing from diagnosis through the first 6 years of survivorship. Steven J. Katz, MD, MPH, of the University of Michigan, Ann Arbor, and colleagues reported that 71.9% of patients who were eligible for genetic testing at diagnosis reported receiving it at some point during the observation period.
“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,” said Dr. Katz in an institutional press release.
Data from the Georgia and Los Angeles County Surveillance, Epidemiology, and End Results Program (SEER) registries were used in this study. A total of 1,412 women (aged 20–79) who were diagnosed with early-stage breast cancer in 2014 to 2015 reported on their genetic counseling, testing, and communication with relatives about results.
Findings revealed a total of 47.4% of patients had indications for genetic testing at any time throughout the observation period: 28.0% at baseline and an additional 19.4% at the time of the follow-up surveys (only); 71.9% of those with a baseline indication reported having undergone genetic testing. Alternatively, the data showed a total of 53.3% of patients with an indication at follow-up surveys only and 35.0% with no indication (P < .001). Additionally, patients who reported a pathogenic variant (n = 62) were much more likely to have talked to most or all their first-degree adult relatives about genetic testing than were those with a variant of unknown significance (n = 49) or a negative finding (n = 419; P < .001).
Disclosure: Dr. Katz reported no conflicts of interest. For full disclosures of the other study authors, visit coi.ascopubs.org.
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