👉Since the 2013 Supreme Court decision revoking patent protection for raw DNA sequences, BRCA1 and BRCA2 have been included in most multigene panel tests.
👉Next-generation sequencing tests are accurate, with analytic sensitivity and specificity measured at greater than 99.9% for detection of known pathogenic variants.
👉The 2013 Supreme Court decision also introduced competition into the genetic testing marketplace, leading to several low-cost multigene panel testing options.
👉Panel tests that include dozens of genes still identify BRCA1 and BRCA2 as the genes most frequently affected by pathologic mutation.
👉Mutations in PALB2, CHEK2, and ATM are the next most common.
👉There is a 20% to 40% chance that a multigene panel test will return a variant of uncertain clinical significance compared with about 3% for standard BRCA1 and BRCA2 tests.
Rodrigo Arrangoiz MS, MD, FACS, FSSO 