Inherited Cancer in the Age of Next-Generation Sequencing.
Kristin S Price, Ashley Svenson, Elisabeth King and 2 others
PMID 29325452WHAT IT FOUND
Multigene cancer panels find more inherited mutations than single-gene testing, but they also return many uncertain results, which can complicate counseling.
Key findings
01In people with suspected hereditary breast cancer who previously tested negative for BRCA1/2, testing additional genes gave a positive result in 2.9% to 11.4% of cases.
02In 475 patients referred for genetic counseling, 15.6% had a mutation found by multigene testing, and 47.3% of these mutations would have been missed by a single-gene, stepwise approach.
03Uncertain results are common on multigene cancer panels, with reported rates of 19.7% to 42%, and most reclassified uncertain variants are benign.
STILL TO COME
How it was doneWhat they foundWhat it means for RNs
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What it does not show
This is a narrative review, not an original study, so it does not report new patient outcomes or test how multigene panels work in practice. The authors are employees of, and the work was funded by, Counsyl, a laboratory that provides inherited cancer screening, which may shape the emphasis on multigene testing. The review states that laboratory methods, gene panels, risk estimates, variant classification, and management guidance vary, and that evidence is limited for some genes, multiple mutations, unexpected results, and moderate-penetrance genes.
Declared interests
All authors except Ms. King are employees of Counsyl, a laboratory providing inherited cancer screening, and the work was funded by Counsyl.
The easy way to misread this
Do not read multigene testing as a simple yes-or-no answer. The review says uncertain results are common, and most uncertain variants are later found to be benign, so they should not by themselves change medical management.