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DEFINITIONS
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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/ct2/show/NCT04157595
Registration number
NCT04157595
Ethics application status
Date submitted
21/10/2019
Date registered
8/11/2019
Date last updated
9/04/2024
Titles & IDs
Public title
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
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Scientific title
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
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Secondary ID [1]
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RCH HREC 2019.097
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Universal Trial Number (UTN)
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Trial acronym
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
X-Linked Genetic Diseases
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Autosomal Recessive Disorder
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Condition category
Condition code
Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Intervention/exposure
Study type
Interventional
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Description of intervention(s) / exposure
Other interventions - Reproductive Genetic Carrier Screening
Experimental: Participating Couples - Reproductive Genetic Carrier Screening
Other interventions: Reproductive Genetic Carrier Screening
Carrier screening for approximately 1300 genes associated with severe autosomal recessive and X-linked recessive conditions affecting children will be performed on each member of the couple. A combined result will be issued indicating whether the couple has a 'low' or 'increased' risk of having a child with a genetic condition
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Intervention code [1]
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Other interventions
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Screening Uptake (Quantitative)
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Assessment method [1]
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Practitioners offering screening will be asked to record the number of couples offered screening which will allow calculation of screening uptake.
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Timepoint [1]
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At offer of screening
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Primary outcome [2]
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Frequency of Increased-Risk Couples
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Assessment method [2]
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Analysis of carrier frequencies of the genes tested and the frequency of identification of increased-risk couples
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Timepoint [2]
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At reporting of results (~Weeks 5-6 since enrolment)
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Primary outcome [3]
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Reproductive Choices made by Increased-Risk Couples
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Assessment method [3]
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For pregnant couples, the investigators will ascertain how many have prenatal diagnosis (PND), and of those who have PND and an affected fetus is identified, how many terminate the pregnancy. For those who are not pregnant at the time of screening, the investigators will ascertain choices for future pregnancies that occur during the timeframe of the study, including how many choose preimplantation genetic diagnosis (PGD), how many choose a naturally conceived pregnancy with PND and how many choose a naturally conceived pregnancy without any testing.
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Timepoint [3]
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Reproductive choices made by couples will be tracked from the date an increased-risk result is received until study closure on 31 December 2022. A subset of couples will be interviewed ~19 months after receiving an increased-risk result.
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Primary outcome [4]
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Cohort Characteristics of those who decline and those who accept RGCS
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Assessment method [4]
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Short survey capturing personal information: age, country of birth, language spoken at home, ethnicity, religion and religiosity, education level, employment status, household income, marital status, pregnancy history and family/genetic history information.
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Timepoint [4]
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Couples who decline screening;at offer or at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
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Primary outcome [5]
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Predictors of Uptake - Decliners
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Assessment method [5]
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Survey asking main reason(s) for declining to participate informed by the Health Belief Model (HBM). The HBM is used to predict and explain uptake of a health behaviour. It includes four components: perceived benefits, perceived susceptibility, perceived severity and perceived barriers (Janz and Becker 1984). A subset of declining couples will be invited for interview to explore the decision-making process and their reasons for declining testing.
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Timepoint [5]
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Couples who decline screening; at offer or enrolment (Day 0); optional
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Primary outcome [6]
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Predictors of Uptake - Decliners
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Assessment method [6]
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Survey asking main reason(s) for declining to participate informed by the Health Belief Model (HBM). The HBM is used to predict and explain uptake of a health behaviour. It includes four components: perceived benefits, perceived susceptibility, perceived severity and perceived barriers (Janz and Becker 1984). A subset of declining couples will be invited for interview to explore the decision-making process and their reasons for declining testing.
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Timepoint [6]
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At decision not to provide samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Primary outcome [7]
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Predictors of Uptake - Acceptors
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Assessment method [7]
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Survey asking main reason(s) for choosing to participate informed by the Health Belief Model (HBM). The HBM is used to predict and explain uptake of a health behaviour. It includes four components: perceived benefits, perceived susceptibility, perceived severity and perceived barriers (Janz and Becker 1984)
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Timepoint [7]
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Couples who accept screening; at offer or enrolment (Day 0); compulsory.
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Primary outcome [8]
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Predictors of Uptake - Acceptors
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Assessment method [8]
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Survey asking main reason(s) for choosing to participate informed by the Health Belief Model (HBM). The HBM is used to predict and explain uptake of a health behaviour. It includes four components: perceived benefits, perceived susceptibility, perceived severity and perceived barriers (Janz and Becker 1984)
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Timepoint [8]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [1]
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Participant Experience - Attitudes/Perceptions
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Assessment method [1]
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Survey assessing attitudes towards carrier screening in the general population, and the attitudes of the couple towards carrier screening for themselves.
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Timepoint [1]
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Couples who decline screening;at offer or at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
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Secondary outcome [2]
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Participant Experience - State-Anxiety - pre-screening
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Assessment method [2]
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Six-item short-form of the state-anxiety scale of the Spielberger State-Trait Anxiety Inventory (STAI) (Marteau and Bekker 1992). This scale measures how the respondent feels "right now, at this moment". Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [2]
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Couples who decline screening; at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
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Secondary outcome [3]
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Participant Experience - State-Anxiety - pre-screening II
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Assessment method [3]
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Six-item short-form of the state-anxiety scale of the Spielberger State-Trait Anxiety Inventory (STAI) (Marteau and Bekker 1992). This scale measures how the respondent feels "right now, at this moment". Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [3]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [4]
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Participant Experience - State-Anxiety - post-result
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Assessment method [4]
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Six-item short-form of the state-anxiety scale of the Spielberger State-Trait Anxiety Inventory (STAI) (Marteau and Bekker 1992). This scale measures how the respondent feels "right now, at this moment". Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [4]
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Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
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Secondary outcome [5]
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Participant Experience - State-Anxiety - long-term follow-up
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Assessment method [5]
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Six-item short-form of the state-anxiety scale of the Spielberger State-Trait Anxiety Inventory (STAI) (Marteau and Bekker 1992). This scale measures how the respondent feels "right now, at this moment". Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [5]
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Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
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Secondary outcome [6]
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Participant Experience - Trait-Anxiety - pre-screening
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Assessment method [6]
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20-item trait-anxiety scale (Form Y2) of the Spielberger State-Trait Anxiety Inventory (STAI). This scale measures how the respondent "generally" feels. Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [6]
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Couples who decline screening; at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
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Secondary outcome [7]
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Participant Experience - Trait-Anxiety - pre-screening II
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Assessment method [7]
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20-item trait-anxiety scale (Form Y2) of the Spielberger State-Trait Anxiety Inventory (STAI). This scale measures how the respondent "generally" feels. Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [7]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [8]
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Participant Experience - Trait-Anxiety - post-result
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Assessment method [8]
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20-item trait-anxiety scale (Form Y2) of the Spielberger State-Trait Anxiety Inventory (STAI). This scale measures how the respondent "generally" feels. Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [8]
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Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
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Secondary outcome [9]
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Participant Experience - Trait-Anxiety - long-term follow-up
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Assessment method [9]
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20-item trait-anxiety scale (Form Y2) of the Spielberger State-Trait Anxiety Inventory (STAI). This scale measures how the respondent "generally" feels. Scores range from 20 to 80. A high score indicates the presence of high levels of anxiety.
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Timepoint [9]
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Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
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Secondary outcome [10]
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Health Economic Impact - Assessment of Quality of Life - pre-screening
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Assessment method [10]
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12-item Assessment of Quality of Life-4D (AQoL-4D) questionnaire (Hawthorne, Richardson and Osbourne 1999; Richardson and Hawthorne 1998). This questionnaire measures health-related quality of life in four dimensions: Independent Living, Relationships, Mental Health and Senses. Total scores range from a minimum of 12 to a maximum of 48. Higher scores indicate a lower health-related quality of life.
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Timepoint [10]
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Couples who decline testing, at enrolment (Day 0); optional. Couples who accept testing, at enrolment (Day 0); compulsory
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Secondary outcome [11]
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Health Economic Impact - Assessment of Quality of Life - post-result
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Assessment method [11]
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12-item Assessment of Quality of Life-4D (AQoL-4D) questionnaire (Hawthorne, Richardson and Osbourne 1999; Richardson and Hawthorne 1998). This questionnaire measures health-related quality of life in four dimensions: Independent Living, Relationships, Mental Health and Senses. Total scores range from a minimum of 12 to a maximum of 48. Higher scores indicate a lower health-related quality of life.
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Timepoint [11]
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Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
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Secondary outcome [12]
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Health Economic Impact - Assessment of Quality of Life - long-term follow-up
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Assessment method [12]
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12-item Assessment of Quality of Life-4D (AQoL-4D) questionnaire (Hawthorne, Richardson and Osbourne 1999; Richardson and Hawthorne 1998). This questionnaire measures health-related quality of life in four dimensions: Independent Living, Relationships, Mental Health and Senses. Total scores range from a minimum of 12 to a maximum of 48. Higher scores indicate a lower health-related quality of life.
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Timepoint [12]
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Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
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Secondary outcome [13]
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Health Economic Impact - Participants' willingness to pay
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Assessment method [13]
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Questions with randomised monetary values to assess maximum amount participants would be willing to pay, and whether the test should be government, privately or Medicare funded.
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Timepoint [13]
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Couples who decline screening, at enrolment (Day 0); optional. Couples who accept screening, at enrolment (Day 0); compulsory
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Secondary outcome [14]
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Participant Experience - Health Literacy
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Assessment method [14]
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Questions to assess health literacy level
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Timepoint [14]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [15]
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Participant Experience - Evaluation of Educational and Decision-Aid Materials
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Assessment method [15]
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Questions to evaluate resources developed for participating couples e.g. decision aid, website, brochure
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Timepoint [15]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [16]
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Participant Experience - Decisional Conflict
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Assessment method [16]
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16-item scale measuring personal perception of uncertainty, factors contributing to uncertainty, and effective decision making. Includes five subscores: uncertainty, informed, values clarity, support, effective decision making (O'Conner 1993 (updated 2010)). Total scores range from 0 [no decisional conflict] to 100 [very high decisional conflict].
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Timepoint [16]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [17]
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Participant Experience - Deliberation
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Assessment method [17]
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6-item scale measuring decision deliberation. Dichotomous scale: responses below the midpoint (11 or under) classified as not deliberated and those at or above the midpoint as deliberated (Van den Berg, Timmermans, Ten et al 2006)
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Timepoint [17]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [18]
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Participant Experience - Decision-Making Approach
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Assessment method [18]
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Survey evaluating decision-making approach i.e. whether it was an individual or shared decision and who was involved in the decision-making process, e.g. couples, family, health-professional
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Timepoint [18]
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At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
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Secondary outcome [19]
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Participant Experience - Genomics Outcome Scale (GOS-6)
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Assessment method [19]
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6-item scale measuring empowerment as an outcome of clinical genetics services. Total scores range from a minimum of 6 to a maximum of 30. Higher scores indicate higher levels of empowerment (Grant et al. 2018)
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Timepoint [19]
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Increased-risk couples, before and after genetic counselling session (~Weeks 5-6 since enrolment)
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Secondary outcome [20]
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Participant Experience - Decisional Regret - post-result
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Assessment method [20]
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A 5-item scale measuring distress and remorse after a health care decision. Scores range from 0 [no regret] to 100 [high regret]. Subset of low-risk couples to be contacted for interview to explore experience of having testing and receiving a low-risk result.
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Timepoint [20]
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Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
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Secondary outcome [21]
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Participant Experience - Decisional Regret - long-term follow-up
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Assessment method [21]
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A 5-item scale measuring distress and remorse after a health care decision. Scores range from 0 [no regret] to 100 [high regret]. Subset of low-risk couples to be contacted for interview to explore experience of having testing and receiving a low-risk result.
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Timepoint [21]
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Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
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Secondary outcome [22]
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Participant Experience - Qualitative Interviews
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Assessment method [22]
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Subset of low-risk couples to be contacted for interview to explore longer-term experience of having testing and receiving a low-risk result. Subset of increased-risk couples to be contacted for interview to explore the experience of receiving a increased-risk result, the use of this information in reproductive decision-making, and the communication of genetic information within families.
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Timepoint [22]
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Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
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Eligibility
Key inclusion criteria
In order to take part in the study, couples need to have visited a recruiting HCP who will
assess them for eligibility based on the criteria below:
INCLUSION CRITERIA
- Planning to become pregnant or in early pregnancy (less than 10 weeks gestation at
enrolment and less than 11 weeks gestation at sample receipt by the laboratory)
- Both members of the couple available to participate in the study and available to
provide a sample for testing at the same time.
- If the couples are using an egg/sperm donor/s, the donor/s need to be available to
provide a DNA sample for testing and consent to having carrier screening.
NB: If both members of the couple are known carriers of the same autosomal recessive
condition, or the female is a known carrier of an X-linked recessive condition, they will
still be eligible to have RGCS through the study, but will only be considered an
'increased-risk' couple for the purposes of this study if they are identified through the
study testing to be carriers of pathogenic variants in a different gene.
EXCLUSION CRITERIA
Participating couples meeting any of the following requirements will be excluded from this
study:
- Pregnant and greater than 10 weeks gestation at enrolment.
- Only one member of the couple agrees to participate in the study.
- One or both members of the couple are less than 18 years old.
- Both members of the couple are not available to be tested at the same time.
- The couple are using an egg/sperm donor/s and the donor/s are not available for
testing or the couple are using an anonymous donor.
- One member of the couple has already been screened as part of the study.
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Minimum age
18
Years
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
Yes
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Key exclusion criteria
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Study design
Purpose of the study
Health Services Research
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Allocation to intervention
N/A
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Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
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Methods used to generate the sequence in which subjects will be randomised (sequence generation)
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Masking / blinding
Open (masking not used)
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Who is / are masked / blinded?
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Intervention assignment
Single group
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Other design features
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Phase
Not Applicable
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Type of endpoint/s
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Statistical methods / analysis
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Recruitment
Recruitment status
Active, not recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
21/11/2019
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
31/12/2024
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Actual
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Sample size
Target
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Accrual to date
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Final
18302
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Recruitment in Australia
Recruitment state(s)
NSW,NT,QLD,SA,TAS,VIC,WA
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Recruitment hospital [1]
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Forster Community Health Service - Forster
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Recruitment hospital [2]
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0
Liverpool Hospital - Liverpool
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Recruitment hospital [3]
0
0
Hunter Genetics - Newcastle
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Recruitment hospital [4]
0
0
Royal Hospital for Women - Sydney
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Recruitment hospital [5]
0
0
Sydney Children's Hospital, Randwick - Sydney
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Recruitment hospital [6]
0
0
Royal Prince Alfred Hospital - Sydney
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Recruitment hospital [7]
0
0
The Children's Hospital at Westmead - Sydney
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Recruitment hospital [8]
0
0
Westmead Hospital - Sydney
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Recruitment hospital [9]
0
0
Campbelltown Hospital - Sydney
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Recruitment hospital [10]
0
0
Tamworth Communith Health Services - Tamworth
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Recruitment hospital [11]
0
0
Taree Community Health Service - Taree
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Recruitment hospital [12]
0
0
Wagga Wagga Base Hospital - Wagga Wagga
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Recruitment hospital [13]
0
0
Royal Darwin Hospital - Darwin
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Recruitment hospital [14]
0
0
Royal Brisbane and Women's Hospital - Brisbane
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Recruitment hospital [15]
0
0
Cairns Hospital - Cairns
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Recruitment hospital [16]
0
0
Mareeba Hospital - Mareeba
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Recruitment hospital [17]
0
0
Women's and Children's Hospital - Adelaide
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Recruitment hospital [18]
0
0
Royal Hobart Hospital - Hobart
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Recruitment hospital [19]
0
0
Victorian Clinical Genetics Services - Melbourne
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Recruitment hospital [20]
0
0
Northern Hospital - Melbourne
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Recruitment hospital [21]
0
0
Mercy Hospital for Women - Melbourne
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Recruitment hospital [22]
0
0
West Gippsland Heath Service (Warragul Hospital) - Warragul
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Recruitment hospital [23]
0
0
Joondalup Health Campus - Joondalup
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Recruitment hospital [24]
0
0
King Edward Memorial Hospital - Perth
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Recruitment postcode(s) [1]
0
0
2428 - Forster
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Recruitment postcode(s) [2]
0
0
2170 - Liverpool
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Recruitment postcode(s) [3]
0
0
2298 - Newcastle
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Recruitment postcode(s) [4]
0
0
2031 - Sydney
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Recruitment postcode(s) [5]
0
0
2050 - Sydney
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Recruitment postcode(s) [6]
0
0
2145 - Sydney
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Recruitment postcode(s) [7]
0
0
2560 - Sydney
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Recruitment postcode(s) [8]
0
0
2340 - Tamworth
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Recruitment postcode(s) [9]
0
0
2430 - Taree
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Recruitment postcode(s) [10]
0
0
2650 - Wagga Wagga
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Recruitment postcode(s) [11]
0
0
0810 - Darwin
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Recruitment postcode(s) [12]
0
0
4029 - Brisbane
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Recruitment postcode(s) [13]
0
0
4870 - Cairns
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Recruitment postcode(s) [14]
0
0
4880 - Mareeba
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Recruitment postcode(s) [15]
0
0
5006 - Adelaide
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Recruitment postcode(s) [16]
0
0
7000 - Hobart
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Recruitment postcode(s) [17]
0
0
3052 - Melbourne
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Recruitment postcode(s) [18]
0
0
3076 - Melbourne
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Recruitment postcode(s) [19]
0
0
3084 - Melbourne
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Recruitment postcode(s) [20]
0
0
3820 - Warragul
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Recruitment postcode(s) [21]
0
0
6027 - Joondalup
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Recruitment postcode(s) [22]
0
0
6008 - Perth
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Funding & Sponsors
Primary sponsor type
Other
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Name
Murdoch Childrens Research Institute
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Address
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Country
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Other collaborator category [1]
0
0
Other
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Name [1]
0
0
Australian Government Department of Health and Ageing
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Address [1]
0
0
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Country [1]
0
0
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Other collaborator category [2]
0
0
Other
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Name [2]
0
0
The University of New South Wales
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Address [2]
0
0
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Country [2]
0
0
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Other collaborator category [3]
0
0
Other
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Name [3]
0
0
The University of Western Australia
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Address [3]
0
0
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Country [3]
0
0
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Other collaborator category [4]
0
0
Other
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Name [4]
0
0
Harry Perkins Institute of Medical Research
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Address [4]
0
0
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Country [4]
0
0
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Other collaborator category [5]
0
0
Other
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Name [5]
0
0
University of Sydney
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Address [5]
0
0
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Country [5]
0
0
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Other collaborator category [6]
0
0
Other
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Name [6]
0
0
Macquarie University, Australia
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Address [6]
0
0
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Country [6]
0
0
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Other collaborator category [7]
0
0
Other
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Name [7]
0
0
Griffith University
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Address [7]
0
0
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Country [7]
0
0
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Other collaborator category [8]
0
0
Other
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Name [8]
0
0
Victorian Clinical Genetics Services
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Address [8]
0
0
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Country [8]
0
0
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Other collaborator category [9]
0
0
Other
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NSW Health Pathology
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PathWest Laboratory Medicine WA
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King Edward Memorial Hospital
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Royal Brisbane and Women's Hospital
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Women's and Children's Hospital, Australia
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Sydney Children's Hospitals Network
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Royal Hobart Hospital
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Ethics approval
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Summary
Brief summary
This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples
across Australia. Carrier screening for approximately 1300 genes associated with severe,
childhood-onset, X-linked and autosomal recessive conditions will be performed on each member
of the couple. A combined result will be issued indicating whether the couple has a 'low' or
'increased' risk of having a child with a genetic condition. It is anticipated that 1-2% of
couples will be at an increased risk of having an affected child.
The study will evaluate all aspects of the RGCS program to assess the feasibility and
acceptability of a publicly-funded population-wide RGCS program, including:
- education of recruiting healthcare providers
- education of participating couples
- implementation and uptake of RGCS
- frequency of increased-risk couples and their reproductive decisions
- psychosocial impacts
- ethical issues
- health economic implications
- health implementation research
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Trial website
https://clinicaltrials.gov/ct2/show/NCT04157595
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Contacts
Principal investigator
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Martin Delatycki
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Murdoch Children's Research Institute/Victorian Clinical Genetics Services
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Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT04157595
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