Guidelines miss cancer patients who could benefit from genetic testing: Part 1

Watch a 6-minute video summarizing this study

Current guidelines recommend that only a subset of cancer patients receive genetic testing. Yet recent data suggest that many more could benefit. In a study of 4,196 Medicare cancer patients published in Annals of Surgical Oncology, Invitae found that positive results are nearly as high in patients who did not meet criteria for testing as in patients who met criteria.1

Positive rates for the pan-cancer panel* were similar among patients who met guidelines and patients who did not meet guidelines (10.5% and 9.0%, respectively). These data suggest that clinicians recommending genetic testing for only those patients who fit criteria are likely to be missing patients with clinically actionable variants.

Based on these data, we believe that broadening testing criteria has the potential to capture more at-risk individuals and families. We hope that this new data, combined with our $250 patient-pay pricing, enables more patients who need testing to get it—whether or not they meet guidelines or coverage policies.


Read part 2 of this series.

1. Yang S, Axilbund JE, O’Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum RL. Underdiagnosis of hereditary breast and ovarian cancer in Medicare patients: Genetic testing criteria miss the mark. Ann Surg Oncol. 2018;25(10):2925-31.

*The average panel ordered in the study tested 37 genes.