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Traceback: A proposed framework to increase identification and genetic counseling of BRCA1 and BRCA2 mutation carriers through family-based outreach


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.

Type Journal
ISBN 1527-7755 (Electronic) 0732-183X (Linking)
Authors Samimi, G.; Bernardini, M. Q.; Brody, L. C.; Caga-Anan, C. F.; Campbell, I. G.; Chenevix-Trench, G.; Couch, F. J.; Dean, M.; de Hullu, J. A.; Domchek, S. M.; Drapkin, R.; Spencer Feigelson, H.; Friedlander, M.; Gaudet, M. M.; Harmsen, M. G.; Hurley, K.; James, P. A.; Kwon, J. S.; Lacbawan, F.; Lheureux, S.; Mai, P. L.; Mechanic, L. E.; Minasian, L. M.; Myers, E. R.; Robson, M. E.; Ramus, S. J.; Rezende, L. F.; Shaw, P. A.; Slavin, T. P.; Swisher, E. M.; Takenaka, M.; Bowtell, D. D.; Sherman, M. E.
Responsible Garvan Author (missing name)
Published Date 2017-07-10
Published Volume 35
Published Issue 20
Published Pages 2329-2337
Status Published in-print
DOI 10.1200/JCO.2016.70.3439
URL link to publisher's version
OpenAccess link to author's accepted manuscript version