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Research Letter
February 7, 2017

Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer

Author Affiliations
  • 1Stanford University, Department of Medicine, Stanford, California
  • 2University of Michigan, Department of Biostatistics, Ann Arbor
  • 3University of Southern California, Department of Preventive Medicine, Los Angeles
  • 4Emory University, Department of Epidemiology, Atlanta, Georgia
  • 5Memorial Sloan-Kettering Cancer Center, Department of Surgery, New York, New York
  • 6University of Michigan, Department of Internal Medicine, Ann Arbor
  • 7University of Michigan, Department of Radiation Oncology, Ann Arbor
JAMA. 2017;317(5):531-534. doi:10.1001/jama.2016.16918

Germline genetic testing of patients with breast cancer is an important model of how increasingly widespread genomic sequencing can influence treatment decision making. Testing of 2 breast cancer–associated genes, BRCA1 and BRCA2, has been available for 20 years, but new massively parallel sequencing technology and less restrictive patent laws have made multiplex panel tests available at much lower costs.1 Yet little is known about recent patient experience with genetic testing and counseling. Genetic counselors are experts in risk assessment and communication, but because of workforce limitations, some physicians must counsel and test patients without their assistance.2 These challenges motivated this investigation of patients’ use of and perspectives on genetic counseling and testing.