How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry

Abstract

There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research with nearly 35,000 participants in the Colon Cancer Family Registry, based in the USA, Canada, Australia, and New Zealand. Investigators from six multinational sites provided information about disclosure protocols, implementation, and uptake of genetic results and made suggestions to inform practice. Across 5 of the 6 registry sites, 1,634 participants in families with mismatch repair or MutYH gene muta- Genet (2014) 5:99-108 DOI 10.1007 effort to return results. We offer suggestions in five key areas: (1) planning for the disclosure process, (2) participant information, (3) autonomy of participants, (4) monitoring scientific progress, and (5) involvement of stakeholders. Despite increasing discussion of the importance of returning incidental findings from genetic research, this paper highlights the considerable diversity, challenges, and costs faced in practice when returning expected findings with established utility and validity. We argue that more work is needed to ensure that genetic results in research are optimally managed.

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

“…The FCC staffs' lack of knowledge at the point of initial contact dissuaded some participants from further FCC contact despite their intention to follow up the genetic research results. This occurred despite the involvement of stakeholders when planning the disclosure process as recommended by Keogh et al,8 where all Australian FCCs were informed about the study, the research findings and process of notification. This information was possibly not communicated with all staff, including those responsible for the first contact with new patients.…”

“…The participating centres in the US and Canada of the Colon Cancer Family Register study employed a study genetic counsellor who provided genetic counselling in person or via telephone. 8 The presence of the genetic counsellor is likely to have made it easier for the US and Canadian participants to access information and support in comparison to the Australian participants who were required to actively seek a referral and contact a genetic service not involved with the research study.…”

“…4 Similarly, the majority of participants from the Colon Cancer Family Registry (Colon CFR) multinational study, in which genetic testing for mismatch repair or MutYH gene mutations was performed, accepted the opportunity to receive personal genetic results. 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%.…”

“…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. 11 Alternatively, the lower uptake rated witnessed in Australia may be due to economic and geographical factors, such as misconceptions about the costs of genetic testing, concerns about insurance implications or the fact that clinics may be geographically distant and, therefore, difficult to attend.…”

“…11 Alternatively, the lower uptake rated witnessed in Australia may be due to economic and geographical factors, such as misconceptions about the costs of genetic testing, concerns about insurance implications or the fact that clinics may be geographically distant and, therefore, difficult to attend. 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.…”