Implementing pharmacogenomic testing in Australian general practice: an exploratory qualitative study.

To explore general practitioners' (GPs) views on implementing pharmacogenomic testing in Australian general practice. Semi-structured interviews were conducted with nine GPs in Australia, recruited from primary care networks. Interviews were analyzed using thematic analysis.

The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.

Objectives: To report the long-term outcomes from a longitudinal psychosocial study that forms part of the 'Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic risk and controls' (IMPACT) study. The IMPACT study is a multi-national study of targeted prostate cancer (PrCa) screening in individuals with a known germline pathogenic variant (GPV) in either the BReast CAncer gene 1 (BRCA1) or the BReast CAncer gene 2 (BRCA2).

Subjects And Methods: Participants enrolled in the IMPACT study were invited to complete a psychosocial questionnaire prior to each annual screening visit for a minimum of 5 years.

The PRESIDE (PhaRmacogEnomicS In DEpression) Trial: a double-blind randomised controlled trial of pharmacogenomic-informed prescribing of antidepressants on depression outcomes in patients with major depressive disorder in primary care.

Background: The evidence for the clinical utility of pharmacogenomic (PGx) testing is growing, and guidelines exist for the use of PGx testing to inform prescribing of 13 antidepressants. Although previous randomised controlled trials of PGx testing for antidepressant prescribing have shown an association with remission of depression in clinical psychiatric settings, few trials have focused on the primary care setting, where most antidepressant prescribing occurs.

Methods: The PRESIDE Trial is a stratified double-blinded randomised controlled superiority trial that aims to evaluate the impact of a PGx-informed antidepressant prescribing report (compared with standard prescribing using the Australian Therapeutic Guidelines) on depressive symptoms after 12 weeks, when delivered in primary care.

Designing a decision aid for cancer prevention: a qualitative study.

Objectives: Australian guidelines recommend people aged 50-70 years old consider taking low-dose aspirin to reduce their risk of colorectal cancer. The aim was to design sex-specific decision aids (DAs) with clinician and consumer input, including expected frequency trees (EFTs) to communicate the risks and benefits of taking aspirin.

Methods: Semi-structured interviews were conducted with clinicians.

Serum testosterone and prostate cancer in men with germline pathogenic variants.

Objectives: The relation of serum androgens and the development of prostate cancer (PCa) is subject of debate. Lower total testosterone (TT) levels have been associated with increased PCa detection and worse pathological features after treatment. However, data from the Reduction by Dutasteride of Prostate Cancer Events (REDUCE) and Prostate Cancer Prevention (PCPT) trial groups indicate no association.

The Colorectal cancer RISk Prediction (CRISP) trial: a randomised controlled trial of a decision support tool for risk-stratified colorectal cancer screening.

Background: A risk-stratified approach to colorectal cancer (CRC) screening could result in a more acceptable balance of benefits and harms, and be more cost-effective.

Aim: To determine the effect of a consultation in general practice using a computerised risk assessment and decision support tool (Colorectal cancer RISk Prediction, CRISP) on risk-appropriate CRC screening.

Design And Setting: Randomised controlled trial in 10 general practices in Melbourne, Australia, from May 2017 to May 2018.

The SCRIPT trial: study protocol for a randomised controlled trial of a polygenic risk score to tailor colorectal cancer screening in primary care.

Background: Polygenic risk scores (PRSs) can predict the risk of colorectal cancer (CRC) and target screening more precisely than current guidelines using age and family history alone. Primary care, as a far-reaching point of healthcare and routine provider of cancer screening and risk information, may be an ideal location for their widespread implementation.

Methods: This trial aims to determine whether the SCRIPT intervention results in more risk-appropriate CRC screening after 12 months in individuals attending general practice, compared with standard cancer risk reduction information.

Preferences for a polygenic test to estimate cancer risk in a general Australian population.

Purpose: There is significant interest in the use of polygenic risk score (PRS) tests to improve cancer risk assessment and stratified prevention. Our current understanding of preferences regarding different aspects of this novel testing approach is limited. This study examined which attributes of a PRS test most influence the likelihood of testing.

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer.

Background: A suspected Lynch syndrome (SLS) diagnosis is made when a tumor exhibits DNA mismatch repair deficiency but cannot be definitively assigned to an inherited or non-inherited etiology. This diagnosis poses challenges for healthcare professionals, patients, and their families in managing future cancer risks and clinical care.

Methods: This qualitative study aimed to explore the psychosocial and behavioral responses of endometrial cancer (EC) patients receiving a SLS diagnosis (EC-SLS).

Exploring a novel method for optimising the implementation of a colorectal cancer risk prediction tool into primary care: a qualitative study.

Background: We developed a colorectal cancer risk prediction tool ('CRISP') to provide individualised risk-based advice for colorectal cancer screening. Using known environmental, behavioural, and familial risk factors, CRISP was designed to facilitate tailored screening advice to patients aged 50 to 74 years in general practice. In parallel to a randomised controlled trial of the CRISP tool, we developed and evaluated an evidence-based implementation strategy.

"Left in limbo": Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis.

Background: A diagnosis of suspected Lynch syndrome (SLS) is given when a tumour displays characteristics consistent with Lynch syndrome (LS), but no germline pathogenic variant is identified. This inconclusive diagnosis results in uncertainty around appropriate cancer risk management. This qualitative study explored how patients with CRC interpret and respond to an SLS diagnosis.

Informed choice and attitudes regarding a genomic test to predict risk of colorectal cancer in general practice.

Objective: A genomic test to predict personal risk of colorectal cancer (CRC) that targets screening and could be feasibly implemented in primary care. We explored informed decision-making and attitudes towards genomic testing in this setting.

Methods: A CRC genomic test was offered to 150 general practice patients with brief discussion of its implications.

An RCT of a decision aid to support informed choices about taking aspirin to prevent colorectal cancer and other chronic diseases: a study protocol for the SITA (Should I Take Aspirin?) trial.

Background: Australian guidelines recommend that all people aged 50-70 years old actively consider taking daily low-dose aspirin (100-300 mg per day) for 2.5 to 5 years to reduce their risk of colorectal cancer (CRC). Despite the change of national CRC prevention guidelines, there has been no active implementation of the guidelines into clinical practice.

The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening.

Objectives: To assess the feasibility and uptake of a community-based prostate cancer (PCa) screening programme selecting men according to their genetic risk of PCa. To assess the uptake of PCa screening investigations by men invited for screening. The uptake of the pilot study would guide the opening of the larger BARCODE1 study recruiting 5000 men.

Newly diagnosed seizures assessed at two established first seizure clinics: Clinic characteristics, investigations, and findings over 11 years.

Objective: 'First seizure' clinics (FSCs) aim to achieve early expert assessment for individuals with possible new-onset epilepsy. These clinics also have substantial potential for research into epilepsy evolution, outcomes, and costs. However, a paucity of FSCs details has implications for interpretation and utilization of this research.

Clinicians' opinions on recommending aspirin to prevent colorectal cancer to Australians aged 50-70 years: a qualitative study.

Objectives: Australian guidelines recommend all adults aged 50-70 years old without existing contraindications consider taking low-dose aspirin (100-300 mg per day) for at least 2.5 years to reduce their risk of developing colorectal cancer. We aimed to explore clinicians' practices, knowledge, opinions, and barriers and facilitators to the implementation of these new guidelines.

The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program.

Background: In many countries, population colorectal cancer (CRC) screening is based on age and family history, though more precise risk prediction could better target screening. We examined the impact of a CRC risk prediction model (incorporating age, sex, lifestyle, genomic, and family history factors) to target screening under several feasible screening scenarios.

Methods: We estimated the model's predicted CRC risk distribution in the Australian population.

A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care?

Introduction: Genomic tests can predict risk and tailor screening recommendations for colorectal cancer (CRC). Primary care could be suitable for their widespread implementation.

Objective: We aimed to assess the feasibility and acceptability of administering a CRC genomic test in primary care.

Continuing a pregnancy after diagnosis of a lethal fetal abnormality: Views and perspectives of Australian health professionals and parents.

Background: Couples who receive a prenatal diagnosis of a fetal anomaly in Victoria, Australia, are generally offered a choice about whether or not to continue with the pregnancy. When a severe or 'lethal' abnormality is diagnosed, some couples decide to continue the pregnancy in the knowledge that their baby may die before or shortly after birth. Several Australian parents who published personal accounts of that experience describe a lack of clear clinical pathways, suggesting those who decide to continue a pregnancy following a diagnosis of a 'lethal fetal abnormality' (LFA) may not be receiving optimal care.

Benefits and harms of selective oestrogen receptor modulators (SERMs) to reduce breast cancer risk: a cross-sectional study of methods to communicate risk in primary care.

Background: In Australia, evidence-based guidelines recommend that women consider taking selective oestrogen receptor modulators (SERMs) to reduce their risk of breast cancer. In practice, this requires effective methods for communicating the harms and benefits of taking SERMs so women can make an informed choice.

Aim: To evaluate how different risk presentations influence women's decisions to consider taking SERMs.

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.

Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations.

Objective: To report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status.

Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history.

Before SNP-based risk can be incorporated in colorectal cancer (CRC) screening, the ability of these SNPs to estimate CRC risk for persons with and without a family history of CRC, and the screening implications need to be determined. We estimated the association with CRC of a 45 SNP-based risk using 1181 cases and 999 controls, and its correlation with CRC risk predicted from detailed family history. We estimated the predicted change in the distribution across predefined risk categories, and implications for recommended screening commencement age, from adding SNP-based risk to family history.