Cost-effectiveness of BRCA1/BRCA2 Variant Reclassification and Recontact for Hereditary Breast and Ovarian Cancer in the United States.

Gregory F Guzauskas¹, Sara M Berger², Robert O'Connor³, Serra Kim⁴, Scott Topper⁵, Elizabeth Chao⁶, Carolyn Horton⁷, Lily Hoang⁸, David L Veenstra⁹, Wendy K Chung¹⁰

¹The CHOICE Institute, Department of Pharmacy, University of Washington; Seattle, WA. Electronic address: greguz@uw.edu.

²Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY. Electronic address: sb3928@cumc.columbia.edu.

³Color Health, Inc., Burlingame, CA. Electronic address: bob@color.com.

⁴Color Health, Inc., Burlingame, CA. Electronic address: serra@color.com.

⁵Color Health, Inc., Burlingame, CA. Electronic address: scott@color.com.

⁶Ambry Genetics, Aliso Viejo, CA; University of California at Irvine, Irvine, CA USA. Electronic address: echao@ambrygen.com.

⁷Ambry Genetics, Aliso Viejo, CA. Electronic address: chorton@ambrygen.com.

⁸Ambry Genetics, Aliso Viejo, CA. Electronic address: lhoang@ambrygen.com.

⁹The CHOICE Institute, Department of Pharmacy, University of Washington; Seattle, WA; Institute for Public Health Genetics, University of Washington; Seattle, WA. Electronic address: veenstra@uw.edu.

¹⁰Department of Pediatrics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA. Electronic address: Wendy.Chung@childrens.harvard.edu.

PubMed DOI

Abstract

PURPOSE: Reclassification of variants of uncertain significance in BRCA1/2 impact clinical management, health outcomes, and healthcare costs, raising questions about cost-effectiveness and optimal timing of reinterpretation. This study evaluated cost-effectiveness of BRCA1/2 variant reclassification strategies and how timing and duration influence outcomes. METHODS: Using data from two independen…

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