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Comment & Response
May 18, 2017

Current Challenges Associated With Next-Generation Sequencing of Breast Cancer—Reply

Author Affiliations
  • 1Houston Methodist Cancer Center, Houston, Texas
  • 2Lester & Sue Smith Breast Center, Baylor College of Medicine, Houston, Texas
JAMA Oncol. Published online May 18, 2017. doi:10.1001/jamaoncol.2017.0665

In Reply Regarding the deficiency in cell-free DNA (cfDNA) reports not reporting germ-line abnormalities, we1 certainly agree with Dr Sorscher. The current approach of ordering both a cfDNA test from one laboratory and a germ-line analysis from another is both inefficient and expensive. Indeed, patients with advanced disease can find themselves in a situation where the germ-line testing is reimbursed and the cfDNA is not, or vice versa. A combined germ-line and cfDNA somatic test makes particular sense in the setting of PARP inhibition, where a BRCA1/2 mutation may identify a patient with sensitive disease irrespective of whether the mutation is germ-line or somatic. A test that does not do both risks missing patients who could benefit.

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