lunes, 30 de julio de 2018

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap. - PubMed - NCBI

2018 Jul 24. pii: jmedgenet-2018-105472. doi: 10.1136/jmedgenet-2018-105472. [Epub ahead of print]

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.

McCuaig JM1,2, Stockley TL3,4, Shaw P5, Fung-Kee-Fung M6, Altman AD7, Bentley J8, Bernardini MQ9, Cormier B10, Hirte H11, Kieser K12, MacMillan A13, Meschino WS14, Panabaker K15, Perrier R16, Provencher D10, Schrader KA17, Serfas K18, Tomiak E19, Wong N20, Young SS21, Gotlieb WH22, Hoskins P23, Kim RH24,25; BRCA TtoT Community of Practice.

Abstract

The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2-related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2-associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.