None listed
Conditions
Brief summary
What is this study for? This study aims to assess the psychological and behavioral outcomes associated with offering women their personal polygenic risk score for breast cancer risk. The study will include women who opt to receive their results as well, as those who decline this offer. Who is it for? You may be eligible to participate in this trial if you are a woman aged 18 or over who has already enrolled in the 'Variants in Practice’ study (ViP) in whom known breast cancer predisposition genes have been excluded as the cause of your personal and/or familial breast cancer risk. Study details: Participants enrolled in this trial will have a personal polygenic risk score (PRS). Individual PRS result has been calculated as part of the parent study “Variants in Practice”. Participants who opt to receive the results will then attend a one hour face-to-face session with a clinical geneticist or genetic counsellor who has received training in delivering these results. During this session, the risk score will be discussed as well as any preventative strategies which may be considered. Participants can also opt to not receive their results, in which case they will not receive this face-to-face session. All participants will be asked to complete a number of questionnaires assessing the psychological effects of receiving or not receiving their risk score. It is hoped that the findings from this trial will help to develop a model of care offering polygenic breast cancer risk testing, in which results are provided to participants without causing negative psychological effects such as breast cancer anxiety and depression.
Interventions
This study aims to assess the psychological and behavioural outcomes associated with receiving personal polygenic breast cancer risk results.
Intervention: uptake of polygenic breast cancer risk results.
Participants in this study will be invited by letter to take part in the study and receive their personal polygenic breast cancer risk result. The invitation packet includes: a study invitation letter, participant information and consent form, and an educational leaflet describing polygenic r
This study aims to assess the psychological and behavioural outcomes associated with receiving personal polygenic breast cancer risk results. Intervention: uptake of polygenic breast cancer risk results. Participants in this study will be invited by letter to take part in the study and receive their personal polygenic breast cancer risk result. The invitation packet includes: a study invitation letter, participant information and consent form, and an educational leaflet describing polygenic risk. The leaflet has been pilot tested in a previous study. Participants have undergone genomic testing and had their individual polygenic risk score (PRS) calculated as part of the parent ViP study. Participants recruited to the ViP study have provided blood samples either through a Familial Cancer Clinic (index cases) or collected at their local pathology collection center (family members recruited through index cases). Individual PRS was calculated based on 64 common risk variants. PRS is a log-additive score, calculated by weighing each risk variant by the log of the per-allele odds ratio as measured in this cohort. For further information on this please see Sawyer, et al. 2012, J. Clin. Oncol. Participants who opt to receive their results will attend a one-off, face to face appointment of approximately 1 hour, with a qualified genetic counsellor and/or a clinical geneticist at one of the six participating familial cancer clinics. These sites include: Peter MacCallum Cancer Centre, Royal Melbourne Hospital, Austin Health, Monash Health, Cabrini Hospital, and the Royal Hobart Hospital. The intervention received will be personalized to the participant. This is because participants are receiving their own personal polygenic risk. Furthermore, each participant has their own unique personal and family history of breast cancer which influences their individual breast cancer risk assessment. Therefore, any discussion of breast cancer risk and risk management strategies will be personalised in accordance to the individual’s polygenic risk result, and personal/family history of breast cancer. As polygenic information represents a new test in the familial cancer setting, genetic health professionals participating in the study have completed training on the return of this information. The training has included a one day workshop which covered education on polygenic risk, its implications for breast cancer risk prediction, and methods of communicating polygenic risk results. The workshop was developed by A/Prof. Paul James (clinical geneticists and ViP study principal investigator), Ms Mary Anne-Young (senior genetic counsellor Peter MacCallum Cancer Centre) and A/Prof. Kristine Barlow Stewart (Director, Masters of Genetic Counselling University of Sydney). Genetic health professionals also have the opportunity to observe senior clinicians (A/Prof James and Ms Young) return PRS results to study participants. A training manual and visual aids have also been developed to facilitate patient communication. Finally, a sample report has been developed based on a previous qualitative study.
Sponsors
Prof. Bettina Meiser, UNSW Sydney
Study design
Allocation
Non-randomised trial
Intervention model
Single group
Primary purpose
Educational / counselling / training
Masking
Open (masking not used)
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Women enrolled in the ‘Variants in Practice’ study (ViP) provide a unique cohort in which to systematically ascertain the important psychosocial and clinical implications of genomic testing. The ViP study (HREC/11/PMCC/43) is enrolling a cohort of over 4,000 Victorian women and men who have a high-risk family history of breast cancer, that includes index cases with a personal history of breast cancer and their affected and unaffected relatives Inclusion criteria: Women aged 18 years and over who are current participants of the ViP study. Additional criteria includes women where a known breast cancer predisposition gene has been excluded as the cause of their personal and/or familial breast cancer risk, and who are sufficiently proficient in English to provide informed consent and complete questionnaires. Both index cases with a personal history of breast cancer, and their family members (affected and unaffected) will be invited to participate in this psychosocial study. This study will include women with a low (N=200) and high (N=200) polygenic risk score. Each group will then stratified by disease status, such that about 100 affected and 100 unaffected women are included in each study group.
Exclusion criteria
- Women where a known breast cancer predisposition gene mutation (e.g. BRCA1/2) has been identified as the cause of their personal and/or familial breast cancer - male participants of the ViP study. Men will be excluded as they constitute a very small proportion of ViP participants (<10%) and therefore as the small sample size will preclude a meaningful statistical comparison with the majority female cohort. - Women who receive an intermediate polygenic risk score will also be ineligible, because intermediate results do not change a woman’s risk status and hence risk management advice in a clinically meaningful way. - The funding parameters for this project means that it is not feasible to develop the study documentation and the assessment tools in multiple languages. Hence, women must be able to complete English language self-administered questionnaires to be eligible to participate in the study. - Patients with obvious intellectual or mental impairment that may interfere with the patient's ability to understand the requirements of the study will also be excluded.
Outcome results
None listed