Development of decision aids for female BRCA1 and BRCA2 mutation carriers in Germany to support preference-sensitive decision-making

Kautz-Freimuth, Sibylle; Redaèlli, Marcus; Rhiem, Kerstin; Vodermaier, Andrea; Krassuski, Lisa; Nicolai, Kathrin; Schnepper, Miriam; Kuboth, Violetta; Dick, Julia; Vennedey, Vera; Wiedemann, Regina; Schmutzler, Rita; Stock, Stephanie

doi:10.1186/s12911-021-01528-4

BMC Medical Informatics and Decision Making

Table 3 Basic medical contents of the identified DAs

From: Development of decision aids for female BRCA1 and BRCA2 mutation carriers in Germany to support preference-sensitive decision-making

DA: Author/developer, year of publication [reference]	Kurian, 2011 [58]	Metcalfe, 2006 [57]	Hereditary Cancer Clinic et al, 2012^### [64]	Healthwise, 2016^# [61]	Mayo Clinic, 2016^# [59]	Cardiff University, 2014^## [62, 63]	Mayo Clinic, 2014^# [60]
Format	Online tool for individualisation	Brochure/PDF	Brochure/PDF	Online text	Online text	Online tool for individualisation	Online text
Target group	Women with BRCA1/2 mutations; differentiation between BRCA1and BRCA2 mutation Not affected by cancer (previvors)	Women with BRCA1/2 mutations; no differentiation between BRCA1and BRCA2 mutation Not affected by cancer (previvors)	Women with a strong family history of breast cancer and -BRCA1/2 mutations -Personal history of unilateral breast cancer -Personal history of multiple breast biopsies -Breast cancer anxiety	Women at high risk for breast cancer with -Family history of breast cancer -BRCA1/2 mutations	Women at increased risk for breast cancer with -Personal history of unilateral breast cancer -Family history of breast cancer -BRCA1/2 mutations -Personal history of LCIS -Personal history of radiotherapy at the age of 10 to 30 -Dense breast tissue	Women at increased risk of ovarian cancer with -BRCA1or BRCA2 mutations -Being from a Lynch syndrome family -No genetic test -Uninformative genetic test -Negative genetic test	Women at increased risk of ovarian cancer with -BRCA1 or BRCA2 mutations -Strong family history of breast cancer and ovarian cancer without known genetic alteration -Strong likelihood of gene mutation, but no genetic testing
Addressed cancer risk	Breast cancer risk^a Ovarian cancer risk^a	Breast cancer risk	Breast cancer risk	Breast cancer risk	Breast cancer risk	Ovarian cancer risk^b	Ovarian cancer risk
Information on cancer risks
Lifetime risks of breast cancer
No mutation^§	10–12 of 100	11 of 100	8 of 100	12 of 100	0	0	0
BRCA1 mutation	47–85 of 100	0	0	55–65 of 100	0	X^c	0
BRCA2 mutation	40–85 of 100	0	0	45 of 100	0	X^c	0
BRCA1/2 mutation	0	80 of 100	0	40–85 of 100	0	0	0
Risks of contralateral breast cancer
No mutation^§	0	0	0	0	0	0	0
BRCA1 mutation	0	0	0	0	0	0	0
BRCA2 mutation	0	0	0	0	0	0	0
BRCA1/2 mutation	0	0	0	0	0	0	0
Lifetime risks of ovarian cancer
No mutation^§	1–2 of 100	0	0	0	0	0	0
BRCA1 mutation	39–46 of 100	0	0	0	0	X^c	0
BRCA2 mutation	11–27 of 100	0	0	0	0	X^c	0
BRCA1/2 mutation	0	40 of 100	0	0	0	0	0
Further risk information
Time-related risks	0	0	(X)^d	0	0	0	0
Age-related risks	0	0	(X)^d	0	0	(X)^d	0
Competing risks	0	0	0	0	0	0	0
Information on preventive measures - breast cancer
Intensified screening
Self-examination^y	0	X	(X)^e	0	X	0	0
Medical examination	0	X	(X)^e	(X)^f	X	0	0
Breast MRI	X	X	X	X	X	0	X^g
Mammography	X	X	X	X	X	0	X^g
Breast ultrasound	0	0	X	0	0	0	0
Risk-reducing surgery
Mastectomy	X^h	X^h	Xⁱ	X^h	Xⁱ	0	X^h
Salpingo-oophorectomy^y	X^j	X	0	X	0	X^m	0
Oophorectomy^y	X^k	0	0	X^l	X	0	X
Preventive medication^y
Tamoxifen	0	X	0	Xⁿ	X	0	0
Raloxifen	0	(X)^o	0	X^p	X^p	0	0
Aromatase inhibitors	0	(X)^o	(X)^q	X^p	X^p	0	0
Other
No oral contraception^y	0	0	X	0	0	X	X
No hormone replacement therapy^y	0	0	X	0	(X)^r	X^s	X^t
Information on preventive measures -ovarian cancer
Screening^y
Transvaginal ultrasound	0	0	0	0	0	(X)^u	(X)^v
CA125 testing	0	0	0	0	0	(X)^u	(X)^v
Risk-reducing surgery
Salpingo-oophorectomy	X^j	X^w	0	X	0	X	X
Oophorectomy^y	X^k	0	0	X	X	0	0
Other
Oral contraception	0	0	0	0	0	X	X
Hormone replacement therapy^y	0	0	0	X^x	0	X	X
Further information
Breast surgery, breast reconstruction	0	0	X	0	0	0	0
Adnexa surgery	0	0	0	0	0	0	0

BRCA1/2: BReast CAncer gene 1 and 2; DA: decision aid; LCIS: lobular carcinoma in situ; MRI: magnetic resonance imaging; previvors: women with pathogenic BRCA1or BRCA2 mutations without a personal history of cancer
X: Yes, (X): Yes, but with limitation; 0: No/not applicable
^#Current version dated 2019 available
^##Example online version of the DA no longer available
^###Developers: Hereditary Cancer Clinic, Prince of Wales Hospital, Centre for genetics education, NSW Health, Royal north shore hospital
^§No mutation: general population
^aCalculates average rates for mortality and survival after inputting patient characteristics and planned preventive option(s), compares to "no preventive intervention" and "no mutation"
^bProvides individualized information after inputting personal risk characteristics, age and personal history of breast cancer
^cStates risk rates for individualised situation (applicable mutation, cancer history, woman’s age)
^dExample information on age and/or time-related risk of disease
^eStates on p. 6: "regular breast examinations" (self/medical examination not specified)
^f"checkups 1 to 2 times a year", not specified which kind of examination is meant
^g Briefly mentioned in the chapter "Why might a woman opt for oophorectomy over mastectomy?"
^hBilateral mastectomy for reduction of breast cancer risk
ⁱUnclear as to whether unilateral or bilateral mastectomy is meant
^jThe term salpingo-oophorectomy is used in the DA glossary
^k The term oophorectomy is used in the DA tool
^lStates that oophorectomy reduces the risk of breast cancer in women at high risk of breast cancer
^mBriefly mentioned on p. 9
ⁿStates that tamoxifen is most helpful for women under 50 years of age
^oStates on p. 2: "medications are being studied for breast cancer prevention"
^pFor post-menopausal women
^qStates that an international study examines the effect of anastrozole on preventing breast cancer in high-risk post-menopausal women
^rAvoidance of hormone replacement therapy in post-menopause
^sNo increase in breast cancer risk if hormone replacement therrapy is stopped after menopause
^tStates that after surgically induced menopause younger women should consider short-term hormone replacement therapy up to the age of 50 to 52
^uStates that there is no evidence that screening leads to early diagnosis
^vStates that there is no evidence that screening saves lives
^wMentioned in the appendix
^xStates that in case of serious symptoms following removal of ovaries, women might consider to talk with the doctor about taking a short course of hormone therapy
^yNot recommended/no clear statement as primary preventive measure in women with BRCA1/2 mutations by the German S3 and S2 guidelines [8, 9, 14]

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ISSN: 1472-6947

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