Mechanisms to increase cascade testing in hereditary breast and ovarian cancer: Impact of introducing standardized communication aids into genetic counseling

Abstract

Aim Precancer identification of women with hereditary breast and ovarian cancer (HBOC) could prevent 20% of these ovarian cancers. The objective was to determine whether standardized Facing Our Risk of Cancer Empowered (FORCE) materials are acceptable, improve knowledge of HBOC and increase disclosure to family members. Methods A prospective cohort of women with breast or ovarian cancer was identified prior to genetic testing. Subjects completed a baseline knowledge survey and were provided three communication aids. Knowledge, acceptability and communication to family members were reassessed at 6 months and compared to a retrospective cohort who had undergone genetic testing for breast or ovarian cancer prior to the intervention. The primary outcome was increase in HBOC knowledge, requiring 20 pre‐ and postknowledge scores to detect a 10% difference. Results Forty women were enrolled. The median age at cancer diagnosis was 50 years and 55% had a family history of breast or ovarian cancer. Though subjects found the resources acceptable, knowledge scores did not improve after their use. Disclosure rates were of no different between cohorts (83% preintervention vs 77% postintervention, P = 0.26) though there was an increase in deleterious mutation carriers, 0% (0/6) preintervention vs 100% (22/22) postintervention. Rates of subsequent testing in relatives were low in both preintervention and postintervention cohorts (0% vs 4.5%). Conclusion Inclusion of standardized communication tools is acceptable to patients. Knowledge did not improve after their use. In deleterious mutation carriers, disclosure rates increased postintervention.

Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review

“…Two studies used a multiple-component intervention (face-to-face genetic counselling, written resources, and telephone support) [ 20 , 24 ]. Two studies were written decision aids, either using Facing Our Risk of Cancer Empowered (FORCE) resources or using the Sharing Risk Information Tool [ 2 , 25 ]. Two studies compared direct-contact by the genetics clinic with at-risk relatives (DCA) to the family-mediated approach (FMA; proband initiated contact) [ 21 , 22 ].…”

“…Overall evaluation • No between-group differences concerning knowledge of who to inform • Generally, participants had better knowledge of which first-degree relatives at risk needed to be notified (ICCs 0.75–0.91) as opposed to second-degree relatives (ICCs 0.06–0.72) • No difference in motivation • 96% (142/148) of participants found telephone counselling helpful Good (78%) Forrest (Victoria, Australia) [ 24 ] Retrospective cohort study Multiple: a balanced reciprocal chromosomal translocation, BRCA1,BRCA2, HNPCC, multiple endocrine neoplasia type 1, Peutz-Jegher syndrome, or an X-linked condition with reproductive implications 19 probands 1st, 2nd, 3rd Not specified Specific pedigree discussion, telephone follow-up calls 2–4 weeks post-result disclosure, review of family file and verification of whether at-risk relatives had made contact with the genetic service at 3-4 weeks post-result disclosure, recontacting index patient to document reasons, letter offered to be sent directly or via patient Standard genetic counselling practices 1. The proportion of at-risk relatives who had made contact with the clinical genetics service within 2 years of the diagnosis of the index patient • After 2-years, 61% (46/76) of intervention at- risk relatives definitely informed vs 36% (20/55) of control ( p = 0.01) • Intervention group participants 2.6 times more likely to contact genetic clinic than control Adequate (67%) Garcia (Virginia, USA) [ 2 ] Prospective nonrandomized pre- and post-intervention comparison pilot study BRCA1 , BRCA2 40 probands 1st Not specified Facing Our Risk of Cancer Empowered (FORCE) – written education materials provided prior to genetic counselling at oncology clinic visits Pre-intervention standardised counselling Determine whether incorporating materials as an adjunct to counselling is: 1. Acceptable to patients 2.…”

“…The detection of pathogenic variants in asymptomatic individuals is potentially lifesaving. However, universal testing of all germline variants in the general population is not feasible and is cost-prohibitive, due to the overall low prevalence of pathogenic variants in the general population [ 2 ]. Thus, cascade testing, the direct testing of relatives of known pathogenic variant, is the primary approach employed by clinical genetic services [ 2 ].…”

“…However, universal testing of all germline variants in the general population is not feasible and is cost-prohibitive, due to the overall low prevalence of pathogenic variants in the general population [ 2 ]. Thus, cascade testing, the direct testing of relatives of known pathogenic variant, is the primary approach employed by clinical genetic services [ 2 ]. Before testing of relatives can happen, disclosure of genetic results to the family must occur.…”

Healthcare Predictors of Information Dissemination About Genetic Risks

“…Our study is aligned with current research that showed while disclosure rates regarding deleterious pathogenic variants are generally high, subsequent cascade testing among relatives remains low. 52 , 53 , 58 A recent meta-analysis found small and statistically non-significant effect sizes in both familial communication about genetic risk and cascade testing among randomized controlled interventions aimed at improving familial communication and cascade testing. 54 Our findings suggest that patients are interested in sharing information and promoting behavior change among their family and friends – yet, there is a need for interventions that can make them more effective as change agents in their networks.…”