Email updates

Keep up to date with the latest news and content from BMC Medical Genetics and BioMed Central.

Open Access Study protocol

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention

Jan M Hodgson12*, Sylvia A Metcalfe12, MaryAnne Aitken12, Susan M Donath12, Clara L Gaff23, Ingrid M Winship45, Martin B Delatycki67, Loane LC Skene8, Belinda J McClaren2, Jean L Paul12 and Jane L Halliday12

Author Affiliations

1 Department of Paediatrics, University of Melbourne, Melbourne, Australia

2 Murdoch Childrens Research Institute, MCRI, 5th Floor Royal Childrens Hospital, Melbourne 3052, Australia

3 Walter and Eliza Hall Institute, Melbourne, Australia

4 Genetic Medicine, Royal Melbourne Hospital, Melbourne, Australia

5 Department of Medicine, University of Melbourne, Melbourne, Australia

6 Bruce LeFroy Centre for Genetic Health Research, MCRI, Melbourne, Australia

7 Department of Genetics, Austin Health, Melbourne, Australia

8 Melbourne Law School, University of Melbourne, Melbourne, Australia

For all author emails, please log on.

BMC Medical Genetics 2014, 15:33  doi:10.1186/1471-2350-15-33

Published: 14 March 2014

Abstract

Background

Genetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.

Methods

This is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms – the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services.

Discussion

This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.

Trial registration

Australia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.

Keywords:
Genetic counselling; Family communication; Genetic diagnosis; Disclosure