DELRAY BEACH, FL – Germline pathogenic variants (PVs) in genes, such as PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D, predispose patients to increased risk of various cancers. “Multigene panels have become clinically available and commonly ordered because they address syndrome overlap and more effectively identify individuals with PVs than testing for PVs using a single-syndrome approach.”¹

A recent study published in Cancer “sought to add to the growing body of evidence that testing for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D changes clinical management beyond that based on a patient’s personal and family history alone. Furthermore, [the researchers] assessed whether health care providers recommended management according to guidelines and the extent to which patients adhered to such recommendations, because such assessments are important for understanding the real-world effectiveness of guidelines intended to improve cancer morbidity and mortality.”¹

The study found that not only did the multigene panel provide actionable information, but more than 25% of patients within the cohort had their disease management changed based on the results.¹ Additionally, “the current study demonstrates that the majority of providers (79%-82%) recommended management aligned with clinical guidelines [after receiving germline results] and that nearly all patients (97%-100%) adhered to their providers’ recommendations.”¹

Positive PV results were not the only results that affected and can affect treatment for cancer patients. The study “results showing the decrease in provider recommendations for enhanced screening or surgery in patients found not to carry PVs also are important as they suggest fewer unnecessary procedures and further support provider alignment to management guidelines. Although this study focused mainly on the management of those found to carry PVs,” the results clearly show that both positive and negative results affect treatment decisions.¹

Based on the presented data in this study, germline testing for pathogenic variants in certain cancer predisposition genes, like PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D, “changes patient management strategies for those carrying PVs and better informs provider recommendations compared with risk assessment based on personal and family cancer history alone. Furthermore, provider recommendations were aligned with guidelines, and patients adhered to such recommendations, both of which are critical in reducing cancer morbidity and mortality over the long term.”¹