RoBiN (Risk of Breast Neoplasia): An acceptability and feasibility study of personalised screening.

The intervention incorporates a multifactorial risk assessment which incorporates major known breast cancer risk factors (family history, mammographic breast density [MBD], and a polygenic risk score [PRS]) to tailor subsequent screening recommendations based on the individual’s personal risk of developing breast cancer as an alternative to the current population-based age-stratified approach. RoBiN utilises the validated BRISK risk prediction model, which does not require the collection of complex pedigree and medical history data unlike some other models (e.g. Tyrer-Cuzick and BOADICEA) thereby easing barriers to implementation. Women attending the BreastScreen Victoria (BSV) Burgundy Street clinic for a screening mammogram will be invited into the study and consented by a University of Melbourne (UoM) researcher at the clinic 30 minutes ahead of the scheduled appointment. At this appointment (baseline), the researcher will discuss the use of multifactorial risk assessments which incorporates family history, MBD and a genomic test to calculate a PRS. This discussion will include information about MBD, the genomic test, its potential implications for each participant and their recommended cancer screening. The participant will then provide a painless, non-invasive DNA sample using the ORAcollect DNA kit. This is an easy-to-use oral DNA collection kit allows for self or assisted buccal swab, which sample of cells from the inside of the mouth (cheek). DNA collected will be used to calculate a breast cancer PRS. The baseline appointment will take approximately 30 minutes to complete, following which the participant will continue to attend their screening mammogram as scheduled. Clinical and genomic risk factors will be combined to calculate 10-year and lifetime risk of breast cancer using the BRISK model. The calculated risk will be mapped onto risk categories defined by Cancer Australia and used to tailor additional imaging tests and subsequent breast cancer screening. Screening recommendations will be generated to correspond to Cancer Australia’s position statement on the early detection of breast cancer in asymptomatic women. No participant will be recommended less screening than the current national guidelines provided by The Royal Australian College of General Practitioners (RACGP). Women with high MBD, irrespective of multifactorial breast cancer risk will be provided with additional imaging recommendations. Participants and a nominated general practitioner (GP) or practice clinic will receive a risk report 3-4 weeks after study consent summarising their breast cancer risk, recommendations for any additional imaging test or changes to frequency of subsequent screening. Allowing the participant and GP to discuss any concerns and decide on a screening schedule appropriate for the participant. A study genetic counsellor will be available to discuss any concerns as required. The GP will (if required) be asked to organise appropriate referral based on study recommendations. The decision to take up any additional imaging test recommended is at the discretion of the GP and the participant. If participants choose to complete additional imaging this can be accessed via Imaging Associates at no cost to the participants. Adherence to study recommendations based on the risk calculated as a part of the study intervention is not otherwise monitored, changes to screening behaviour is outside the scope of this pilot study. Participants will be contacted following the risk report to complete a brief questionnaire to measure acceptability and psychosocial outcomes.