ANZCTR - Registration

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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]

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

Condition category

Condition code

Human Genetics and Inherited Disorders

Other human genetics and inherited disorders

Cardiovascular

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]

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]

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]

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]

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]

Secondary outcome [2]

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]

Secondary outcome [3]

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]

Secondary outcome [4]

Psychological adaptation to genetic information. This will be assessed using the Adaptation to Genetic Information Scale (PAGIS).

Timepoint [4]

Secondary outcome [5]

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]

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?

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

Accrual to date

Final

Recruitment in Australia

Recruitment state(s)

NSW

Funding & Sponsors

Funding source category [1]

Charities/Societies/Foundations

Name [1]

National Heart Foundation of Australia

Address [1]

Unit 1, Level 1, 17-23 Townshend Street, Phillip ACT 2606

Country [1]

Australia

Primary sponsor type

University

Name

The University of Sydney

Address

Camperdown,NSW, 2006

Country

Australia

Secondary sponsor category [1]

None

Name [1]

Address [1]

Country [1]

Ethics approval

Ethics application status

Approved

Ethics committee name [1]

Sydney Local Health District

Ethics committee address [1]

Ethics committee country [1]

Australia

Date submitted for ethics approval [1]

Approval date [1]

22/09/2016

Ethics approval number [1]

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

Dr Jodie Ingles

Address

Molecular Cardiology Program, Centenary Institute
Locked Bag Number 6
Newtown NSW 2042 AUSTRALIA

Country

Australia

Phone

+612 9565 6293

Fax

j.ingles@centenary.org.au

Contact person for public queries

Name

Charlotte Burns

Address

Molecular Cardiology Program, Centenary Institute
Locked Bag Number 6
Newtown NSW 2042 AUSTRALIA

Country

Australia

Phone

+612 9565 6293

Fax

c.burns@centenary.org.au

Contact person for scientific queries

Name

Jodie Ingles

Address

Molecular Cardiology Program, Centenary Institute
Locked Bag Number 6
Newtown NSW 2042 AUSTRALIA

Country

Australia

Phone

+612 9565 6293

Fax

j.ingles@centenary.org.au

No information has been provided regarding IPD availability

What supporting documents are/will be available?

No Supporting Document Provided

Results publications and other study-related documents

Documents added manually

No documents have been uploaded by study researchers.

Documents added automatically

Source	Title	Year of Publication	DOI
Embase	Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: Study protocol for a randomised controlled trial.	2019	https://dx.doi.org/10.1136/bmjopen-2018-026627

N.B. These documents automatically identified may not have been verified by the study sponsor.

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Documents added manually

Documents added automatically