Journal article

Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice

Bettina Meiser, Rajneesh Kaur, April Morrow, Michelle Peate, WK Tim Wong, Emily McPike, Elisa Cops, Cassandra Nichols, Rachel Austin, Miriam Fine, Letitia Thrupp, Robyn Ward, Finlay Macrae, Janet E Hiller, Alison H Trainer, Gillian Mitchell

HEREDITARY CANCER IN CLINICAL PRACTICE | BMC | Published : 2021

Abstract

BACKGROUND: This nationwide study assessed the impact of nationally agreed cancer genetics guidelines on use of BRCA1/2 germline testing, risk management advice given by health professionals to women with pathogenic BRCA1/2 variants and uptake of such advice by patients. METHODS: Clinic files of 883 women who had initial proband screens for BRCA1/2 pathogenic variants at 12 familial cancer clinics between July 2008-July 2009 (i.e. before guideline release), July 2010-July 2011 and July 2012-July 2013 (both after guideline release) were audited to determine reason given for genetic testing. Separately, the clinic files of 599 female carriers without a personal history of breast/ovarian cancer..

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Grants

Awarded by Cancer Council of New South Wales


Awarded by National Health and Medical Research Council (NHMRC) Senior Research Fellowship Level B


Funding Acknowledgements

This study was funded by a Strategic Research Partnership Grant (SRP 13-02) from the Cancer Council of New South Wales. Bettina Meiser is supported by a National Health and Medical Research Council (NHMRC) Senior Research Fellowship Level B (ID 1078523). Michelle Peate is supported by a University of Melbourne Department of Obstetrics and Gynaecology Fellowship.