Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial

IntroductionGenetic 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 at-risk 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 analysisThis 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 at-risk relatives. Secondary outcomes will assess genetic knowledge, satisfaction with services, outcomes from genetic counselling and psychological adaptation to genetic information.Ethics and disseminationThis 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 numberACTRN12617000706370.

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A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial

BMJ Open ◽

10.1136/bmjopen-2018-025660 ◽

2019 ◽

Vol 9 (7) ◽

pp. e025660

Author(s):

Lieke M van den Heuvel ◽

Yvonne M Hoedemaekers ◽

Annette F Baas ◽

J Peter van Tintelen ◽

Ellen M A Smets ◽

...

Keyword(s):

Randomised Controlled Trial ◽

Genetic Counselling ◽

Study Protocol ◽

Controlled Trial ◽

Total Sample ◽

Control Group ◽

Genetic Counsellor ◽

Dna Testing ◽

Tailored Approach ◽

Randomised Controlled

IntroductionIn current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of genetic counselling and predictive DNA testing in relatives suggests that not all relatives are sufficiently informed. We developed a randomised controlled trial to evaluate the effectiveness of a tailored approach in which probands decide together with the genetic counsellor which relatives they inform themselves and which relatives they prefer to have informed by the genetic counsellor. Here, we present the study protocol of this randomised controlled trial.MethodsA multicentre randomised controlled trial with parallel-group design will be conducted in which an intervention group receiving the tailored approach will be compared with a control group receiving usual care. Adult probands diagnosed with an ICC in whom a likely pathogenic or pathogenic variant is identified will be randomly assigned to the intervention or control group (total sample: n=85 probands). Primary outcomes are uptake of genetic counselling and predictive DNA testing by relatives (total sample: n=340 relatives). Secondary outcomes are appreciation of the approach used and impact on familial and psychological functioning, which will be assessed using questionnaires. Relatives who attend genetic counselling will be asked to fill out a questionnaire as well.Ethics and disseminationEthical approval was obtained from the Medical Ethical Committee of the Amsterdam University Medical Centres (MEC 2017-145), the Netherlands. All participants will provide informed consent prior to participation in the study. Results of the study on primary and secondary outcome measures will be published in peer-reviewed journals.Trial registration numberNTR6657; Pre-results.

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