Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer

Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)

“…8 The intensive notification process implemented by kConFab did not increase the numbers of participants who contacted an FCC. 10 This contrasts with the increased uptake of genetic services by participants after involvement in this current psychosocial study. However, a research nurse rather than genetic counsellor conducted the calls, and the rationale was to confirm receipt rather than discuss the letters' content.…”

“…10 Intensive follow-up did not increase uptake of genetic testing compared with usual notification; however, there was no exploration of why uptake remained low. 10 Although individuals are initially receptive and consent to receive notification of personal clinically significant research results at the time of study enrolment, there is little evidence of participants' experience of receiving notification and why many subsequently do not take up the offer of genetic counselling and testing in Australia. This qualitative exploration of research participants' and their next of kin's (NoK) experiences of receiving a notification letter from the Australian Ovarian Cancer Study (AOCS, refer to Box 1) was undertaken to address this gap.…”

“…8 In contrast, various Australian studies have found that less than half of research participants chose to attend a family cancer centre (FCC) to find out about their cancer risk after being notified that a genetic mutation had been identified. 9,10 Although overall uptake of receiving results was high in the Colon CFR study, Australia had the lowest uptake (56%) compared with other participating centres in the USA and Canada, where uptake was 72-86%. 8 Wakefield et al 11 found that many Australian research participants do not necessarily understand, value or act upon the information they received in the notification letter.…”

“…8,12,13 Concern that few participants pursued genetic counselling after receiving a notification letter regarding the identification of a BRCA1/2 mutation led the Australian Kathleen Cunningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) to implement an intensive notification system to ensure participants were adequately informed about the available genetic information. 10 This involved a research nurse telephoning research participants who had not acknowledged receiving their notification letter. 10 Intensive follow-up did not increase uptake of genetic testing compared with usual notification; however, there was no exploration of why uptake remained low.…”

“…10 This involved a research nurse telephoning research participants who had not acknowledged receiving their notification letter. 10 Intensive follow-up did not increase uptake of genetic testing compared with usual notification; however, there was no exploration of why uptake remained low. 10 Although individuals are initially receptive and consent to receive notification of personal clinically significant research results at the time of study enrolment, there is little evidence of participants' experience of receiving notification and why many subsequently do not take up the offer of genetic counselling and testing in Australia.…”