Table 2 Studies reporting about family members informing at-risk relatives about their genetic risk (Outcome 1).
Study | Type of study | Intervention and control group description | Intervention group | Comparison/Control group | Statistical significance | ||||
|---|---|---|---|---|---|---|---|---|---|
No of at-risk relatives | Informed about their genetic risk | % | No of at-risk relatives | Informed about their genetic risk | % | ||||
Eijzenga | RCT | Intervention: i) regular genetic counselling, included summary letter and testing at the department of Clinical Genetics ii) additional two-phase telephone counselling session based on motivational interviewing. Topics involved: a) Phase 1 identified at-risk relatives and what has been disclosed and a summary letter b) Phase 2 occurred if at-risk relatives were not informed according to the summary letter and included: correct information to provide appropriate relatives, building motivation, enhancing self-efficacy and brainstorming solutions to overcome barriers to disclosure Control: i) regular genetic counselling, included summary letter and testing at the department of Clinical Genetics | 140 | 110a | 78.5 | 150 | 114a | 76.0 | Not reported |
Forrest | Retrospective cohort study | Intervention: i) reviewed pedigree ii) in-person specific discussion of pedigree to identify at-risk relatives and importance of disclosure iii) follow-up letter documenting importance of disclosure iv) 2–4 week post-result disclosure: telephone call with specific discussion about disclosure to at-risk relatives v) 3–6 months post-result disclosure: file review of whether at-risk relative have been contacted, if not, proband is recontact. Offer to provide letter explaining the genetic condition either distributed by proband or mailed directly to at-risk relative at the discretion of proband Control: i) reviewed pedigree ii) in-person general discussion of pedigree iii) follow-up letter documenting importance of disclosure iv) 2–4 week post-result disclosure: telephone call with general discussion about personal adjustment | 60c | 1st - 31 2nd - 7 3rd - 7 Total = 45b,c | 75.0c | 47c | 1st - 6 2nd - 3 3rd - 7 Total = 16b,c | 34.0c | Pearson chi2(1) = 18.0, p < 0.001c |
Garcia | Prospective nonrandomized pre- and post-intervention comparison pilot study | Intervention: i) genetic counselling ii) supplementary written decision aid provided at the time of genetic testing - Facing Our Risk of Cancer Empowered (FORCE) resources: What you should know about genes and cancer brochure’, ‘Worksheet for sharing cancer information with the family’ and a ‘Family letter template’. Pre-intervention: i) genetic counselling | Not reported | Not reported | 1st – 83 (average) | Not reported | Not reported | 1st – 77 (average) | P = 0.26 |
Kardashian | Pilot retrospective cohort study | Intervention: i) in-person post-result genetic counselling informing patients of their BRCA result and discussion of implications of result for individual and their relatives ii) personalised medical report and lab results report iii) family pedigree iv) general information and resources e.g., support groups v) (provided in-person) a 3-4 page personalised medical report reviewing genetic testing process and implications of the result vi) a letter to family member notifying him/her of the pathogenic variant identified in relative vii) Fact-sheet FAQ for family members addressing cancer risk, cost of testing, insurance issues viii) contact information for genetic counsellors) nearest to eligible family members Control: i) in-person post-result genetic counselling informing patients of their BRCA result and discussion of implications of result for individual and their relatives ii) personalised medical report and lab results report iii) family pedigree iv) general information and resources e.g., support groups v) (mailed) a 3-4 page personalised medical report reviewing genetic testing process and implications of the result vi) (optional) a letter to family member notifying him/her of the pathogenic variant identified in relative | 1st – 22; 2nd – 24; cousins – 27; Total = 73 | 1st – 20; 2nd – 18; cousins – 17; Total = 55 | 1st – 90.9; 2nd – 75.0; cousins – 63.0; Total = 75.3 | 1st – 36; 2nd – 32; cousin – 64; Total = 134 | 1st – 32d; 2nd – 12d; cousin – 25d; Total = 69d | 1st – 88.9; 2nd – 37.5; cousins – 39.1; Total = 51.5d | 1st – p = 1.00 2nd – p = 0.32 cousins – p = 0.86 |
Montgomery | RCT | Intervention: i) individual counselling involving the six-step breaking bad news model and education Topics included: a) identifying at-risk relatives b) choosing the communication format e.g., phone, letter c) assessing what relatives know and how much they might want to know At post-result disclosure: d) sharing test results with family members e) responding to family members’ emotional reaction to the disclosure f) providing genetic counselling resources for family members Control: i) a wellness education intervention before and after the disclosure of results Topics included: a) general nutritional information, the role of antioxidants and dietary supplements b) exercise information c) alcohol use and smoking cessation information | 137 probands | 74e | 1st - 54.0 Total = 99.3 | 112 probands | 110e | 1st - 52.7 Total = 98.2 | P = 0.83 |
Roshanai | RCT | Intervention: i) genetic counselling with Geneticist Topics include: a) education e.g., the differences between sporadic vs hereditary cancer, basic gentics, cancer risk b) provided estimates for at-risk relatives’ risk c) supplies information about genetic tesitng, surveilance programs, and explains the importance of cummunicating this information with relatives d) offered further contact if additional support is requested Additional session with specialist nurse directly after the counselling include: ii) explained the pedigree again, identifying at-risk relatives iii) asked about their intentions to inform at-risk relatives and brainstorm ways to overcome barriers iv) explained Buckman’s model of “Breaking Bad News” following the 6-steps as an aid to disclosure to at-risk relatives v) pamphlet about basic genetic concepts and specific information about their type of hereditary cancer vi) (shortly after the session) videotape from the counselling session, a copy of their medical records and a copy of the pedigree, to use in communicating the given information to their at-risk relatives Control: i) Genetic counselling with Geneticist Topics include: a) education e.g., the differences between sporadic vs hereditary cancer, basic genetics, cancer risk b) provided estimates for at-risk relatives’ risk c) supplies information about genetic testing, surveillance programs, and explains the importance of communicating this information with relatives d) offered further contact if additional support is requested Additional session with specialist nurse directly after the counselling included: ii) asked about their intentions to inform at-risk relatives iii) (mailed 8-months later) videotape from the counselling session | Not reported | Not reported | 95.5 at 8-monthsf | Not reported | Not reported | 89.0 at 8-monthsf | Not reported |
