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

Ashley Crook,Loren Plunkett,Mary-Anne Young,Gillian Mitchell,David Bowtell,Laura E Forrest,Nina Hallowell,Kathryn Alsop,Samantha Wake,Margaret Gleeson

doi:10.1038/ejhg.2014.86

Ashley Crook, Loren Plunkett + Show 8 more

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https://doi.org/10.1038/ejhg.2014.86

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Abstract

Population-based genetic research may produce information that has clinical implications for participants and their family. Researchers notify participants or their next of kin (NoK) about the availability of genetic information via a notification letter; however, many subsequently do not contact a family cancer centre (FCC) to clarify their genetic status. Therefore, the purpose of this study was to examine research participants' experience of receiving a notification letter and the factors that influenced contact with an FCC. Twenty-five semi-structured interviews were conducted with research participants (n=10) or their NoK (n=15) who had received a notification letter following participation in the Australian Ovarian Cancer Study. There were a number of factors which impacted participants' access to genetic counselling at an FCC. Some participants had unmet information and support needs, which were addressed by their participation in this psychosocial interview study. Recruitment and participation in this study therefore inadvertently increased a number of participants' intention to contact an FCC. For others, participation in this study facilitated access to an FCC. Recommendations are proposed regarding future notification as well as implications for clinical practice. An approach that also provides opportunity to address research participants' support and informational needs before contacting a clinical genetics service as well as practical guidance for accessing genetic services would facilitate timely and smooth access for research participants who are interested in following up clinically relevant genetic test results.

Highlights

Researchers have some responsibility to notify research participants of their personal clinically significant genetic research results.[1,2] TheAustralian National Health and Medical Research Council mandates that participants must be asked whether they wish to be notified of clinically significant research results and recommend clinical advice and counselling at minimum if information is disclosed.[3]
Seventy-eight notification letters were sent to 33 participants and 45 next of kin (NoK) (Figure 1)
In 27 cases, a notification letter was not sent either because participants had opted for no follow-up (n 1⁄4 2), had deceased and not nominated a NoK to be contacted (n 1⁄4 3) or because the family was already known to a family cancer centre (FCC) and were already aware that a mutation segregated in their family (n 1⁄4 22)

Summary

Introduction

Researchers have some responsibility to notify research participants of their personal clinically significant genetic research results.[1,2] TheAustralian National Health and Medical Research Council mandates that participants must be asked whether they wish to be notified of clinically significant research results and recommend clinical advice and counselling at minimum if information is disclosed.[3]. 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]

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