Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial

Introduction Genetic testing for hypertrophic
cardiomyopathy (HCM) in the era of genomics brings
unique challenges for genetic counselling. The number
of genes routinely included in an HCM gene panel has
increased markedly, many with minimal if any robust
evidence of gene–disease association. Subsequently, there
is a greater chance of uncertain genetic findings. The
responsibility of communicating this information with atrisk relatives lies with the index case (proband). We have
developed a communication aid to assist with the delivery
of genetic results to the proband. We have previously
shown the aid is feasible and acceptable and have now
developed a study protocol for a randomised controlled
trial of a genetic counsellor-led intervention incorporating
the communication aid.
Methods and analysis This is a prospective randomised
controlled trial. We will investigate the impact of a genetic
counsellor-led intervention to return proband genetic
results using a custom-designed communication aid.
We aim to improve knowledge and empowerment. The
primary outcome of this trial is the ability and confidence
of the proband to communicate genetic results to atrisk relatives. Secondary outcomes will assess genetic
knowledge, satisfaction with services, outcomes from
genetic counselling and psychological adaptation to
genetic information.
Ethics and dissemination This study has been approved
by and is in strict accordance with the Sydney Local Health
District Ethics Review Committee (X16-0030; 22/01/2016;
version 1). Results from this trial will be prepared as a
manuscript and submitted to peer-reviewed journals for
publication as well as submission for presentation at
national and international meetings.
Trial registration number ACTRN12617000706370