In a U.S. study reported in the Journal of Clinical Oncology, Steven J. Katz, MD, MPH, and colleagues found that many women with early breast cancer and indications for genetic testing do not undergo said testing.
Study Details
The study involved data from 1,412 women aged 20 to 79 years diagnosed with early-stage breast cancer in 2014 or 2015 from the Georgia and Los Angeles County SEER (Surveillance, Epidemiology, and End Results) regions who were surveyed approximately 7 months (baseline survey) and 6 years (follow-up survey) after diagnosis.
Steven J. Katz, MD, MPH
Key Findings
A total of 47.4% of women had indications for genetic testing at any time, including 28.0% at the baseline survey and an additional 19.4% at only the follow-up survey.
Receipt of genetic resting was reported by 71.9% (95% confidence interval [CI] = 67.4%–76.4%) of women with baseline indications, 53.3% (95% CI = 47.3%–59.2%) of those with indications only at follow-up, and 35.0% (95% CI = 31.6%–38.4%) of those with no indications (overall P < .001). A total of 3.4% of women used direct-to-consumer genetic testing.
Among women who underwent testing, the 62 who reported the discovery of a pathogenic variant were more likely to have discussed testing results with most or all of their first-degree adult relatives, compared with 49 who had found a variant of unknown significance and 419 with negative findings (62.7% vs 38.8% and 38.0%, respectively; overall P < .001).
The investigators concluded, “Many women with indications for genetic counseling and testing into survivorship do not receive it. But those tested reach out to family members on the basis of the clinical relevance of their results. Very few patients obtained direct-to-consumer testing, which suggests that these tests do not substitute for clinical testing in breast cancer survivors.”
Dr. Katz, of the Department of Medicine, University of Michigan, Ann Arbor, is the corresponding author for the Journal of Clinical Oncology article.
Disclosure: The study was supported by an American Cancer Society Research Scholar grant and grants from the National Cancer Institute. For full disclosures of the study authors, visit ascopubs.org.
