Screening Uptake (Quantitative)
Practitioners offering screening will be asked to record the number of couples offered screening which will allow calculation of screening uptake.
Frequency of Increased-Risk Couples
Analysis of carrier frequencies of the genes tested and the frequency of identification of increased-risk couples
Reproductive Choices made by Increased-Risk Couples
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.
Cohort Characteristics of those who decline and those who accept RGCS
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.
Predictors of Uptake - Decliners
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.
Predictors of Uptake - Decliners
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.
Predictors of Uptake - Acceptors
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)
Predictors of Uptake - Acceptors
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)
Participant Experience - Attitudes/Perceptions
Survey assessing attitudes towards carrier screening in the general population, and the attitudes of the couple towards carrier screening for themselves.
Participant Experience - State-Anxiety - pre-screening
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.
Participant Experience - State-Anxiety - pre-screening II
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.
Participant Experience - State-Anxiety - post-result
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.
Participant Experience - State-Anxiety - long-term follow-up
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.
Participant Experience - Trait-Anxiety - pre-screening
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.
Participant Experience - Trait-Anxiety - pre-screening II
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.
Participant Experience - Trait-Anxiety - post-result
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.
Participant Experience - Trait-Anxiety - long-term follow-up
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.
Health Economic Impact - Assessment of Quality of Life - pre-screening
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.
Health Economic Impact - Assessment of Quality of Life - post-result
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.
Health Economic Impact - Assessment of Quality of Life - long-term follow-up
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.
Health Economic Impact - Participants' willingness to pay
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.
Participant Experience - Health Literacy
Questions to assess health literacy level
Participant Experience - Evaluation of Educational and Decision-Aid Materials
Questions to evaluate resources developed for participating couples e.g. decision aid, website, brochure
Participant Experience - Decisional Conflict
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].
Participant Experience - Deliberation
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)
Participant Experience - Decision-Making Approach
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
Participant Experience - Genomics Outcome Scale (GOS-6)
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)
Participant Experience - Decisional Regret - post-result
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.
Participant Experience - Decisional Regret - long-term follow-up
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.
Participant Experience - Qualitative Interviews
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.