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

Table 2 Number and percentages of reasons given for non-compliant files^a

Reasons given	Pre-guideline n = 85 n (%)	2-years post-guideline n = 94 n (%)	4-years post-guideline n = 90 n (%)	Total n = 269 n (%)
Enrolled in the Treatment Focused Genetic Testing Study^b	0 (0)	3 (3)	0 (0)	3 (1)
Gender imbalance-pedigree includes mostly males	3 (3)	2 (2)	5 (6)	10 (4)
Small family size-not enough people in the pedigree to allow an estimation of prevalence	2 (2)	7 (7)	4 (4)	13 (5)
There is ovarian cancer in the family	10 (12)	5 (5)	1 (1)	16 (6)
Patient was adopted	3 (3)	1 (1)	1 (1)	5 (2)
Patient did not know about their family history	1 (1)	0 (0)	0 (0)	1 (0)
Patient’s breast cancer diagnosis < 40 years	15 (18)	22 (23)	28 (31)	65 (24)
Other	51 (60)	54 (57)	46 (51)	151 (56)

^aMore than one reason could be mentioned per test ordered. Women who self-funded testing were excluded
^bTrial offering genetic testing for affected women aged < 50 years with high-risk features
^cCount based on responses to open-ended item “Other reasons” in Supplementary File 1

ISSN: 1897-4287