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In the genomic era, the availability of gene panel and whole genome/exome sequencing is rapidly increasing. Opportunities for providing former patients with new genetic information are also increasing over time and recontacting former patients with new information is likely to become more common. Breast cancer Refined Analysis of Sequence Tests-Risk And Penetrance (BRA-STRAP) is an Australian study of individuals who had previously undertaken BRCA1 and BRCA2 genetic testing, with no pathogenic variants detected. Using a waiver of consent, stored DNA samples were retested using a breast/ovarian cancer gene panel and clinically significant results returned to the patient (or next of kin, if deceased). This qualitative study aimed to explore patient experiences, opinions, and expectations of recontacting in the Australian hereditary cancer setting. Participants were familial cancer clinic patients (or next of kin) who were notified of a new pathogenic variant identified via BRA-STRAP. In-depth, semi-structured interviews were conducted approximately 6 weeks post-result. Interviews were transcribed verbatim and analyzed using an inductive thematic approach. Thirty participants (all female; average age = 57; range 36-84) were interviewed. Twenty-five were probands, and five were next of kin. Most women reported initial shock upon being recontacted with unexpected news, after having obtained a sense of closure related to their initial genetic testing experiences and cancer diagnosis. For most, this initial distress was short-lived, followed by a process of readjustment, meaning-making and adaptation that was facilitated by perceived clinical and personal utility of the information. Women were overall satisfied with the waiver of consent approach and recontacting process. Results are in line with previous studies suggesting that patients have positive attitudes about recontacting. Women in this study valued new genetic information gained from retesting and were satisfied with the BRA-STRAP recontact model. Practice implications to facilitate readjustment and promote psychosocial adaptation were identified., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Objectives: To compare secondary prevention care for patients with coronary heart disease (CHD) and stroke, exploring particularly the influences due to frequency and regularity of primary care visits., Setting: Secondary prevention for patients (≥18 years) in the National Prescription Service administrative electronic health record database collated from 458 Australian general practice sites across all states and territories., Design: Retrospective cross-sectional and panel study. Patient and care-level characteristics were compared for differing CHD/stroke diagnoses. Associations between the type of cardiovascular diagnosis and medication prescription as well as risk factor assessment were examined using multivariable logistic regression., Participants: Patients with three or more general practice encounters within 2 years of their latest visit during 2016-2020., Outcome Measures: Proportions and odds ratios (ORs) for (1) prescription of antihypertensives, antilipidaemics and antiplatelets and (2) assessment of blood pressure (BP) and low-density lipoprotein cholesterol (LDL-C) in patients with stroke only compared against those with CHD only and those with both conditions., Results: There were 111 892 patients with CHD only, 27 863 with stroke only and 9791 with both conditions. Relative to patients with CHD, patients with stroke were underprescribed antihypertensives (70.8% vs 82.8%), antilipidaemics (63.1% vs 78.7%) and antiplatelets (42.2% vs 45.7%). With sociodemographic factors, comorbidities and level of care considered as covariates, the odds of non-prescription of any recommended secondary prevention medications were higher in patients with stroke only (adjusted OR 1.37; 95% CI (1.31, 1.44)) compared with patients with CHD only. Patients with stroke only were also more likely to have neither BP nor LDL-C monitored (adjusted OR 1.26; 95% CI (1.18, 1.34)). Frequent and regular general practitioner encounters were independently associated with the prescription of secondary prevention medications (p<0.001)., Conclusions: Secondary prevention management is suboptimal in cardiovascular disease patients and worse post-stroke compared with post-CHD. More frequent and regular primary care encounters were associated with improved secondary prevention., Competing Interests: Competing interests: CC reports grants from the National Health and Medical Research Council and National Heart Foundation of Australia, outside the submitted work; JY reports that this work was submitted towards the requirements of the degree of Doctor of Medicine., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: The aim of this study was to identify the prevalence and patterns of comorbidity in community-dwelling older people with type 2 diabetes mellitus (T2DM) attending general practice settings in Australia., Methods: This study involved a cross-sectional analysis using the Bettering the Evaluation and Care of Health (BEACH) sub-study data. In a series of sub-studies, a representative sample of general practitioners was asked to record all diagnosed chronic conditions for patients at 40 consecutive encounters using structured paper-based recording forms. The dataset was analysed with descriptive analyses, and exploratory factor analyses were applied to examine comorbidity patterns., Results: Of the 14,042 patients aged 65 years or older, 2688 had a diagnosis of T2DM (19%). Of the 2688 patients with T2DM, hypertension was present in 67% (95% CI: 64.6-70.0), followed by arthritis 52% (95% CI: 48.8-54.8), hyperlipidaemia 45% (95% CI: 41.8-47.9), ischemic heart disease, 23% (95% CI: 20.7-24.9), depression 16% (95% CI: 48.8-54.8), atrial fibrillation 10% (95% CI: 8.9-11.6), congestive heart failure 7% (95% CI: 6.0-8.1), stroke/cerebrovascular accident 7% (95% CI: 5.4-8.2) and peripheral vascular disease 5% (95% CI: 4.4-6.2). We identified two comorbidity patterns among older people with T2DM. The first were psychological and musculoskeletal conditions and the second were cardiovascular conditions and chronic renal failure., Conclusions: The prevalence of cardiovascular and non-cardiovascular comorbidities in community-dwelling older people with T2DM was high. Adequate primary care strategies should be in place to support the long-term care for this population., (© 2024 The Authors. Australasian Journal on Ageing published by John Wiley & Sons Australia, Ltd on behalf of AJA Inc’.)

Background: Previous studies suggest that polygenic risk scores (PRSs) may improve melanoma risk stratification. However, there has been limited independent validation of PRS-based risk prediction, particularly assessment of calibration (comparing predicted to observed risks)., Objectives: To evaluate PRS-based melanoma risk prediction in prospective UK and Australian cohorts with European ancestry., Methods: We analysed invasive melanoma incidence in the UK Biobank (UKB; n = 395 647, 1651 cases) and a case-cohort nested within the Melbourne Collaborative Cohort Study (MCCS, Australia; n = 4765, 303 cases). Three PRSs were evaluated: 68 single-nucleotide polymorphisms (SNPs) at 54 loci from a 2020 meta-analysis (PRS68), 50 SNPs significant in the 2020 meta-analysis excluding UKB (PRS50) and 45 SNPs at 21 loci known in 2018 (PRS45). Ten-year melanoma risks were calculated from population-level cancer registry data by age group and sex, with and without PRS adjustment., Results: Predicted absolute melanoma risks based on age and sex alone underestimated melanoma incidence in the UKB [ratio of expected/observed cases: E/O = 0·65, 95% confidence interval (CI) 0·62-0·68] and MCCS (E/O = 0·63, 95% CI 0·56-0·72). For UKB, calibration was improved by PRS adjustment, with PRS50-adjusted risks E/O = 0·91, 95% CI 0·87-0·95. The discriminative ability for PRS68- and PRS50-adjusted absolute risks was higher than for risks based on age and sex alone (Δ area under the curve 0·07-0·10, P < 0·0001), and higher than for PRS45-adjusted risks (Δ area under the curve 0·02-0·04, P < 0·001)., Conclusions: A PRS derived from a larger, more diverse meta-analysis improves risk prediction compared with an earlier PRS, and might help tailor melanoma prevention and early detection strategies to different risk levels. Recalibration of absolute risks may be necessary for application to specific populations., (© 2022 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)