Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. - PubMed - NCBI
J Clin Oncol. 2017 Apr 11:JCO2016703439. doi: 10.1200/JCO.2016.70.3439. [Epub ahead of print]
Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.
Samimi G1,
Bernardini MQ1,
Brody LC1,
Caga-Anan CF1,
Campbell IG1,
Chenevix-Trench G1,
Couch FJ1,
Dean M1,
de Hullu JA1,
Domchek SM1,
Drapkin R1,
Spencer Feigelson H1,
Friedlander M1,
Gaudet MM1,
Harmsen MG1,
Hurley K1,
James PA1,
Kwon JS1,
Lacbawan F1,
Lheureux S1,
Mai PL1,
Mechanic LE1,
Minasian LM1,
Myers ER1,
Robson ME1,
Ramus SJ1,
Rezende LF1,
Shaw PA1,
Slavin TP1,
Swisher EM1,
Takenaka M1,
Bowtell DD1,
Sherman ME1.
Abstract
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously diagnosed but unreferred patients with ovarian cancer and other unrecognized BRCA1 or BRCA2 mutation carriers to improve the detection of families at risk for breast or ovarian cancer. The concept, designated Traceback, was prompted by the recognition that although BRCA1 and BRCA2 mutations are frequent in women with ovarian cancer, many such women have not been tested, especially if their diagnosis predated changes in testing guidelines. The failure to identify mutation carriers among probands represents a lost opportunity to prevent cancer in unsuspecting relatives through risk-reduction intervention in mutation carriers and to provide appropriate reassurances to noncarriers. The Traceback program could provide an important opportunity to reach families from racial, ethnic, and socioeconomic groups who historically have not sought or been offered genetic counseling and testing and thereby contribute to a reduction in health disparities in women with germline BRCA mutations. To achieve an interdisciplinary perspective, the workshop assembled international experts in genetics, medical and gynecologic oncology, clinical psychology, epidemiology, genomics, cost-effectiveness modeling, pathology, bioethics, and patient advocacy to identify factors to consider when undertaking a Traceback program. This report highlights the workshop deliberations with the goal of stimulating research and providing a framework for pilot studies to assess the feasibility and ethical and logistical considerations related to the development of best practices for implementation of Traceback studies.
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