Table 4 Details of the included studies

Metcalfe et al. [16]

To identify the impact and information needs of women who undergo genetic counselling

79 participants—breast cancer patients (n = 46), at-risk women (n = 33)

Longitudinal survey

Cancer patients had unmet information needs about surgery, screening and chemoprevention

Randall et al. [23]

To investigate the psychological impact, including knowledge gained from genetic counselling and testing in women with breast cancer

64 breast cancer patients; genetic counselling group (n = 34), controls (n = 30)

Analysis of audiotaped genetic counselling consultations

There was no difference in psychological impact or knowledge gain between the groups

Hallowell et al. [35]

To investigate motivations for testing, information and support needs, and reactions to the test results

30 breast and ovarian cancer patients; carriers (n = 10) carriers, no pathogenic variant or VUS result (n = 12), awaiting results (n = 8)

Semi-structured qualitative interviews

The primary reason for testing was for family members. Waiting for results was not anxiety-provoking. Those who misinterpreted a result showing no pathogenic variant or VUS as good news were elated or relieved. Those who correctly interpreted the result as inconclusive felt disbelief, acceptance, disappointment, anger or frustration

Lobb et al. [21]^a

To examine the influence of patients’ individual characteristics on health professionals’ behaviour during genetic counselling

158 participants—breast cancer patients (n = 69), at-risk women (n = 89); genetics health professionals (n = 7)

Analysis of audiotaped genetic counselling consultations

Genetics health professionals discussed more aspects of genetic testing, facilitated patient involvement and used more supportive and counselling behaviours with cancer patients than women at risk

Butow and Lobb [20]^a

To describe the process and content of genetic counselling

As for Lobb et al. [21]

As for Lobb et al. [21]

Essential information was successfully communicated. Eliciting concerns and facilitating involvement was less successfully communicated. Risk information was infrequently communicated.

Lobb et al. [15]^a

To investigate the effect of communication styles on patient outcomes

As for Lobb et al. [21]

As for Lobb et al. [21]

Cancer patients had unmet information needs about risk of contralateral breast cancer and risks for their relatives

van Dijk et al. [36]

To compare breast cancer risk and distress in women who receive different genetic test results

241 participants—breast cancer patients (n = 111), at-risk women (n = 130). VUS (n = 10), pathogenic variant (n = 34), negative predictive test (n = 37), no pathogenic variant or VUS (n = 160)

Longitudinal survey

There was no greater confusion or anxiety amongst the VUS group than the no pathogenic variant or VUS group. No differences were seen between the groups for understanding, perceived risk or distress after result

van Roosmalen et al. [39]

To evaluate the impact of BRCA1/2 testing and disclosure of a positive test result on cancer patients and women at risk

89 participants - breast/ovarian cancer patients with a pathogenic variant (n = 23); at-risk women with a pathogenic variant (n = 66)

Randomised longitudinal survey

For both groups, anxiety-, depression- and cancer-related distress increased and general health decreased over time. Anxiety- and cancer-related distress was higher amongst cancer patients diagnosed ≤1 year than those tested ≥1 year. Intention to have risk-reducing surgery was higher among patients than at-risk women

Mancini et al. [31]

To assess the impact of a standardised information booklet on decision-making

560 breast cancer patients; Trial group (n = 297), controls (263)

Quasi-experimental trial, longitudinal survey

The booklet improved satisfaction, knowledge and decisional conflicts

Pieterse et al. [22]

To characterise breast cancer risk communication

51 participants—breast cancer patients (n = 34), at-risk women (n = 17): genetics health professionals (n = 10)

Longitudinal survey and video-recording of genetic counselling consultations

Most risks were communicated numerically or qualitatively and negatively. Patients’ preferred risk format and existing understanding was rarely sought. Cancer risks often were not communicated

Maheu and Thorne [34]

To explore the experience of women who receive genetic test result showing no pathogenic variant or VUS has been detected

21 breast and ovarian cancer patients

Semi-structured interviews

Results were shocking and difficult to interpret. Coping strategies included questioning the adequacy of testing, distrusting results and focusing on the similarities and differences with other families

Vadaparampil et al. [38]

To understand the experiences of breast cancer patients who have genetic counselling and testing prior to or after completing definitive cancer surgery.

9 breast cancer patients; tested prior to definitive treatment (n = 3), tested after definitive treatment (n = 6)

Semi-structured interviews

There were no differences in motivation for testing, influence of family on decision-making or expectations of testing between groups. Patients tested before surgery were unprepared for the implications of testing

Vos et al. [37]

To explain why cancer patients inaccurately perceive cancer risks when a VUS is detected

24 participants with a VUS—19 cancer patients - breast cancer (n = 17); ovarian cancer (n = 5);  at-risk women (n = 5)

Semi-structured interviews and five-point Likert scales

Risk perception increased when a pathogenic variant was identified, VUS discussed pre-test, risk communicated in words, cancer perceived to be less severe and positive coping styles used

Pieterse et al. [40]

To evaluate outcomes of breast cancer genetic counselling in women with and without breast cancer

77 participants—breast cancer patients (n = 44), at-risk women (n = 33), genetics health professionals (n = 11)

Longitudinal survey and video-recording of genetic counselling consultations

Risk perception improved and anxiety was reduced in at-risk women. Risk perception unchanged and there was less reduction in anxiety for cancer patients

Vadaparampil et al. [42]

To evaluate satisfaction with the timing and strength of recommendations and information received prior to and during genetic counselling among breast cancer patients

51 breast cancer patients; genetic testing before definitive surgery (n = 25), genetic testing after definitive surgery (n = 26)

Survey

There was high satisfaction about the timing and strength of the recommendation for genetics referral. Patients had low levels of expectations pre-counselling and limited understanding of the process

Vos [24]^b

To investigate accuracy of risk perception following genetic counselling

248 breast/ovarian cancer patients. Pathogenic variant (n = 30), VUS (n = 16), no pathogenic variant or VUS (n = 202)

Longitudinal survey

Medical decisions were influenced by perception of risk. The genetic test result and risk influenced outcomes

Christie et al. [27]

To investigate changes in cancer-related knowledge and emotional outcomes in women tested before and after definitive surgery

103 breast cancer patients counselled before (n = 16) and after (n = 87) definitive breast surgery

Longitudinal survey

Knowledge increased for both groups. Women tested before surgery showed deceased cancer -related stress and intrusive thoughts

Meiser et al. [18]

To identify information and communication preferences about genetic testing shortly after diagnosis for breast cancer

26 breast cancer patients diagnosed <50 years

Semi-structured qualitative interviews

There was a preference for personalised, brief, focused information. Specific information needs were highlighted

Vos et al. [25]^b

To quantify the effect that perception has in genetic counselling for hereditary breast/ovarian cancer

As for Vos et al. [24]

As for Vos et al. [24]

Five years after genetic counselling recall of the result was accurate, but perception of the cancer risk and inheritance implications were inaccurate. A pathogenic variant and no pathogenic variant or VUS result were the only factors that predicted decisions about surgery and surveillance

Vos et al. [26]^b

To investigate the short-term outcomes of communicating a genetic test result

As for Vos et al. [24]

As for Vos et al. [24]

Following genetic counselling risk management decisions were influenced by the perception of risk rather than by the communicated risks. The only counselling information that directly predicted counsellees’ perceptions and indirectly predicted outcomes were the DNA test result, the risk for the patient and the risk for her relatives

Gleeson et al. [17]

To identify information and communication preferences about genetic testing shortly after diagnosis for women with ovarian cancer

22 ovarian cancer patients

Semi-structured qualitative interviews

Patients expressed a preference for brief, positive, hope-giving information without statistics early in their diagnosis

Sie et al. [43]

To compare experiences of patients receiving pre-test information via written/digital formats with usual care

161 breast cancer patients; trial group (n = 95), usual care group (n = 66)

Survey

There were no differences in satisfaction, psychological distress, quality of life, breast cancer worry and risk perception for further cancer between groups

Jacobs et al. [33]

To compare the accuracy of information recall amongst patients and relatives following genetic counselling

32 participants - 10 breast and ovarian cancer patients and 22 of their at-risk relatives

Analysis of audiotaped genetic counselling consultations and post consultation interviews

71% of the information communicated during genetic counselling to cancer patients was about hereditary cancer management. Cancer patients accurately recalled 53% of the information

Scherr et al. [29]

To explore the impact of genetic counselling on breast cancer survivors’ knowledge about hereditary cancer over time

103 breast cancer patients; counselled before surgery (n = 16), counselled after surgery (n = 87)

Longitudinal survey

The knowledge gained following pre-test genetic counselling was not retained at 6 months

Quinn et al. [32]

To evaluate the efficacy of an educational pamphlet in preparing women for decision-making about genetic testing

136 breast cancer patients; Trial group (n = 66), controls (n = 70)

Randomised controlled non-inferiority trial, longitudinal survey

There were no differences between the groups for variance in knowledge and psychological outcomes

Augestad et al. [41]

To explore experiences of women with newly diagnosed cancer following genetic testing after written information only

17 breast and ovarian cancer patients

Semi-structured focus group interviews

The experience was shocking, distressing and overwhelming

Benusiglio et al. [30]

To evaluate group genetic counselling

210 breast and ovarian cancer patients

Longitudinal survey

Knowledge and satisfaction were increased over time

Bredart et al. [28]

To investigate the impact of genetic knowledge on feelings of personal control

243 breast cancer patients

Longitudinal survey

Breast cancer knowledge was not retained at post-test genetic counselling

Jacobs et al. [19]

To identify the key messages about BRCA1/BRCA2 required by women with cancer

16 breast and ovarian cancer patients (service users) and 16 expert genetics and cancer health professionals

Delphi survey

Cancer patients agreed that 35 key messages should be communicated pre-test and post test. Of these, 30 key messages were agreed with health professionals. Disagreements were other cancers associated with BRCA2, diet and lifestyle and risks for non-carriers