Trial Review

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Trial registered on ANZCTR


Registration number
ACTRN12617000706370
Ethics application status
Approved
Date submitted
11/05/2017
Date registered
17/05/2017
Date last updated
9/08/2018
Type of registration
Retrospectively registered

Titles & IDs
Public title
Use of an aid to improve communication of genetic risk information amongst families with hypertrophic cardiomyopathy.
Scientific title
Use of a communication aid to improve knowledge and empowerment for improved dissemination of genetic risk information amongst families with hypertrophic cardiomyopathy: a randomised controlled trial.
Secondary ID [1] 291862 0
Nil known
Universal Trial Number (UTN)
U1111-1196-3487
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Hypertrophic cardiomyopathy 303220 0
Condition category
Condition code
Human Genetics and Inherited Disorders 302655 302655 0 0
Other human genetics and inherited disorders
Cardiovascular 302703 302703 0 0
Other cardiovascular diseases

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Eligible participants will be approached by the genetic heart disease clinic coordinator and asked if they are happy to receive their genetic result as part of a research study. Those who agree to participate and provide consent will then undergo randomisation. Records of the number of participants who decline participation will be kept. The study group will be randomised to intervention or normal practice. Those who are randomised to intervention will receive their genetic result using a communication aid developed by our group. Our group is a multidisciplinary team comprising of cardiologists specialising in genetic heart disease, scientists and cardiac genetic counsellors. In addition to research initiatives the group run a genetic heart disease clinic and hypertrophic cardiomyopathy clinic through Royal Prince Alfred Hospital. The aid was developed with the aim of assisting communication of genetic results and risk to family members. Development of the aid was a multi-step process on the basis of multidisciplinary meetings, literature review and empirical evidence. The aid addresses: 1) What is genetic testing 2) The outcome of genetic testing 3) Criteria that determines pathogenicity 4) The implication for family members. Participants randomised to intervention will receive their genetic result for hypertrophic cardiomyopathy from a genetic counsellor, face to face, using the communication aid. The genetic result will be returned during one session only which lasts approximately 30 - 45 minutes. The genetic counsellors delivering the intervention are tertiary trained individuals with a minimum of three years experience in cardiac genetic counselling.
Intervention code [1] 298034 0
Behaviour
Comparator / control treatment
The control group (those participants randomised to control) will receive their genetic results for hypertrophic cardiomyopathy as per current clinical practice at the genetic heart disease clinic. This typically involves return of result by the genetic counsellor and cardiologist. Return of result is usually conducted after clinical cardiology review of the patient in their annual clinical review appointment. These participants will not be given the communication aid.
Control group
Active

Outcomes
Primary outcome [1] 302061 0
Ability and confidence of the proband to communicate genetic results to family members. We will use a single primary outcome variable that is a combination of perceived knowledge and risk communication action. This will aim to determine consistency between the probands self reported ability to communicate information against their self reported percentage of immediate family members informed. This is a binary outcome and has been specifically designed for this study.
Timepoint [1] 302061 0
There is one assessment timepoint for this outcome. Participants will receive a survey two weeks after the return of their results. They will be given a reminder to return the survey at two weeks and encouraged to return the survey before completion of six weeks.
Secondary outcome [1] 334659 0
Genetics knowledge. This will be assessed using an amended version of the Breast Cancer Genetic Counselling Knowledge Questionnaire (BGKQ). This scale was originally developed to assess knowledge of information typically included in genetic counselling for breast cancer.
Timepoint [1] 334659 0
There is one assessment timepoint for this outcome. Participants will receive a survey two weeks after the return of their results. They will be given a reminder to return the survey at two weeks and encouraged to return the survey before completion of six weeks.
Secondary outcome [2] 334660 0
Satisfaction with services. This will be assessed using the widely used Satisfaction with Genetic Counselling Scale (SGCS). The original scale was designed to assess three dimension of patient satisfaction: Instrumental, affective and procedural.
Timepoint [2] 334660 0
There is one assessment timepoint for this outcome. Participants will receive a survey two weeks after the return of their results. They will be given a reminder to return the survey at two weeks and encouraged to return the survey before completion of six weeks.
Secondary outcome [3] 334661 0
Patient reported outcomes of genetic counselling. This will be assessed using the Genetic Counselling Outcome Scale (GCOS-24). The authors designed it to be used in pre-post genetic counselling interventions and we have chosen to use it to compare control and intervention arms.
Timepoint [3] 334661 0
There is one assessment timepoint for this outcome. Participants will receive a survey two weeks after the return of their results. They will be given a reminder to return the survey at two weeks and encouraged to return the survey before completion of six weeks.
Secondary outcome [4] 334662 0
Psychological adaptation to genetic information. This will be assessed using the Adaptation to Genetic Information Scale (PAGIS).
Timepoint [4] 334662 0
There is one assessment timepoint for this outcome. Participants will receive a survey two weeks after the return of their results. They will be given a reminder to return the survey at two weeks and encouraged to return the survey before completion of six weeks.
Secondary outcome [5] 334663 0
In addition to the items assessed by survey, participants will be phoned at one, three and six month intervals to systematically assess and document family communication.
Timepoint [5] 334663 0
One, three and six month intervals after the intervention.

Eligibility
Key inclusion criteria
Consecutive hypertrophic cardiomyopathy (HCM) probands (first individual to present to the clinic) attending the genetic heart disease and/or HCM clinic at RPA hospital and Charles Perkins Clinical Research Facility with a diagnosis of HCM and a genetic test result ready for return. Inclusion criteria are sufficient English, over 18 years and having a genetic result for HCM available.
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
Under 18 years, genetic result unavailable, low level English.

Study design
Purpose of the study
Educational / counselling / training
Allocation to intervention
Randomised controlled trial
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Yes, central randomisation by computer.
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Yes, simple randomisation using a randomisation table created by
computer software (Excel).
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?



Intervention assignment
Parallel
Other design features
Phase
Not Applicable
Type of endpoint/s
Efficacy
Statistical methods / analysis
A priori sample calculations have been performed. Prior data from a previous feasibility study indicate that 75% of participants communicated with their family members. Assuming a control group percentage of 50% communication a significance level of 5% and 80% statistical power, a sample size of n=21 is required per group. We will aim to recruit 45 participants to account for drop-out rates.

A number of statistical analysis tools will be used to compare primary and secondary outcomes between the intervention and control group.

Recruitment
Recruitment status
Recruiting
Date of first participant enrolment
Anticipated
Actual
25/11/2016
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
45
Accrual to date
38
Final
Recruitment in Australia
Recruitment state(s)
NSW

Funding & Sponsors
Funding source category [1] 296362 0
Charities/Societies/Foundations
Name [1] 296362 0
National Heart Foundation of Australia
Country [1] 296362 0
Australia
Primary sponsor type
University
Name
The University of Sydney
Address
Camperdown,NSW, 2006
Country
Australia
Secondary sponsor category [1] 295370 0
None
Name [1] 295370 0
Address [1] 295370 0
Country [1] 295370 0

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 297599 0
Sydney Local Health District
Ethics committee address [1] 297599 0
Ethics committee country [1] 297599 0
Australia
Date submitted for ethics approval [1] 297599 0
Approval date [1] 297599 0
22/09/2016
Ethics approval number [1] 297599 0

Summary
Brief summary
Genetic testing in the era of next generation sequencing technologies brings unique challenges to the genetic counselling of families. Families are confronted with large quantities of complex information for which they hold the responsibility of communicating with family members. In order to communicate genetic results or risk information the proband must have adequate understanding of the information received. Several studies indicate this may be problematic, and some individuals may not retain or understand the information presented to them.

Few resources exist which aim to facilitate the process of cardiac genetic testing for patient understanding, recall and ability to communicate. Data from our research indicates cardiac genetic testing understanding, recall and ability to communicate risk to relatives may be insufficient in a subset of patients. Efforts to better communicate this information is therefore critical.

We have developed a communication aid which aims to assist communication of genetic results and risk to family members. Feasibility and acceptability of the aid has been proven through a pilot study.

We are seeking to determine whether a genetic counsellor- led intervention incorporating a communication aid improves knowledge, satisfaction and patient empowerment compared to current clinical practice. In addition, we aim to assess the dissemination of genetic risk information amongst family members.

We are utilising a randomised controlled trial methodology. Eligible patients diagnosed with hypertrophic cardiomyopathy (with a genetic result available and ready for return) will be recruited to intervention or control. Those randomised to control will receive their result as per current clinical practice within the genetic heart disease clinic. This typically involves return of result by the genetic counsellor and cardiologist. Return of result is usually conducted after clinical cardiology review of the patient in their annual clinical review appointment.Those randomised to intervention will receive their result from a genetic counsellor with use of the communication aid. Primary and secondary outcomes will be compared between the two groups.
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 74546 0
Dr Jodie Ingles
Address 74546 0
Molecular Cardiology Program, Centenary Institute
Locked Bag Number 6
Newtown NSW 2042 AUSTRALIA
Country 74546 0
Australia
Phone 74546 0
+612 9565 6293
Fax 74546 0
Email 74546 0
[email protected]
Contact person for public queries
Name 74547 0
Miss Charlotte Burns
Address 74547 0
Molecular Cardiology Program, Centenary Institute
Locked Bag Number 6
Newtown NSW 2042 AUSTRALIA
Country 74547 0
Australia
Phone 74547 0
+612 9565 6293
Fax 74547 0
Email 74547 0
[email protected]
Contact person for scientific queries
Name 74548 0
Dr Jodie Ingles
Address 74548 0
Molecular Cardiology Program, Centenary Institute
Locked Bag Number 6
Newtown NSW 2042 AUSTRALIA
Country 74548 0
Australia
Phone 74548 0
+612 9565 6293
Fax 74548 0
Email 74548 0
[email protected]

No information has been provided regarding IPD availability


What supporting documents are/will be available?

Current supporting documents:


Updated to:
Doc. No.TypeCitationLinkEmailOther DetailsAttachment
23514Study protocol   
23515Ethical approval   
23516Informed consent form   

Results publications and other study-related documents

Documents added manually
No documents have been uploaded by study researchers.

Documents added automatically
SourceTitleYear of PublicationDOI
EmbaseEvaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: Study protocol for a randomised controlled trial.2019https://dx.doi.org/10.1136/bmjopen-2018-026627
N.B. These documents automatically identified may not have been verified by the study sponsor.