Proactive breast cancer risk assessment in primary care: a review based on the principles of screening.

In the UK, the National Institute for Health and Care Excellence (NICE) recommends that women at moderate or high risk of breast cancer be offered risk-reducing medication and enhanced breast screening/surveillance. In June 2022, NICE withdrew a statement recommending assessment of risk in primary care only when women present with concerns. This shift to the proactive assessment of risk substantially changes the role of primary care, in effect paving the way for a primary care-based screening programme to identify those at moderate or high risk of breast cancer. In this article, we review the literature surrounding proactive breast cancer risk assessment within primary care against the consolidated framework for screening. We find that risk assessment for women under 50 years currently satisfies many of the standard principles for screening. Most notably, there are large numbers of women at moderate or high risk currently unidentified, risk models exist that can identify those women with reasonable accuracy, and management options offer the opportunity to reduce breast cancer incidence and mortality in that group. However, there remain a number of uncertainties and research gaps, particularly around the programme/system requirements, that need to be addressed before these benefits can be realised.

Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.

Women who test positive for an inherited pathogenic/likely pathogenic gene variant in BRCA1, BRCA2, PALB2, CHEK2 and ATM are at an increased risk of developing certain types of cancer-specifically breast (all) and epithelial ovarian cancer (only BRCA1, BRCA2, PALB2). Women receive broad cancer risk figures that are not personalised (e.g., 44-63% lifetime risk of breast cancer for those with PALB2). Broad, non-personalised risk estimates may be problematic for women when they are considering how to manage their risk. Multifactorial-risk-prediction tools have the potential to deliver personalised risk estimates. These may be useful in the patient's decision-making process and impact uptake of risk-management options. This randomised control trial (registration number to follow), based in genetic centres in the UK and US, will randomise participants on a 1:1 basis to either receive conventional cancer risk estimates, as per routine clinical practice, or to receive a personalised risk estimate. This personalised risk estimate will be calculated using the CanRisk risk prediction tool, which combines the patient's genetic result, family history and polygenic risk score (PRS), along with hormonal and lifestyle factors. Women's decision-making around risk management will be monitored using questionnaires, completed at baseline (pre-appointment) and follow-up (one, three and twelve months after receiving their risk assessment). The primary outcome for this study is the type and timing of risk management options (surveillance, chemoprevention, surgery) taken up over the course of the study (i.e., 12 months). The type of risk-management options planned to be taken up in the future (i.e., beyond the end of the study) and the potential impact of personalised risk estimates on women's psychosocial health will be collected as secondary-outcome measures. This study will also assess the acceptability, feasibility and cost-effectiveness of using personalised risk estimates in clinical care.

Understanding the problem of long-term treatment adherence: a phenomenological framework.

In light of the large burden of chronic disease and the low rates of long-term treatment adherence contributing to high rates of morbidity and mortality worldwide, this paper contributes to better understanding the particular kind of challenge that living with chronic illness and adhering to long-term treatment can imply. Both literature on the concept of chronic disease and the experience of illness suggest going outside specific diagnostic categories to better understand the problem of adherence. After introducing the distinction of a thin understanding of chronicity-merely as long duration-and a thick one-chronicity in a phenomenological sense, this paper analyses academic literature on the experience of illness and specifies it to the case of chronic diseases, introducing an original conceptual framework describing some main challenges arising from the experience of chronic disease. The framework is organised in three dimensions: failing to recover as a failure to belong, being at a loss and breaking-up with oneself. This work suggests a particular subjective state in which struggling to follow long-term treatment may seem understandable and reasonable, offering a phenomenological perspective that feeds into the ethical problems arising in chronic diseases, and shedding light on how to increase adherence without reproducing patterns of disadvantage.

Chronic disease as risk multiplier for disadvantage.

This paper starts by establishing a prima facie case that disadvantaged groups or individuals are more likely to get a chronic disease and are in a disadvantaged position to adhere to chronic treatment despite access through Universal Health Coverage. However, the main aim of this paper is to explore the normative implications of this claim by examining two different but intertwined argumentative lines that might contribute to a better understanding of the ethical challenges faced by chronic disease health policy. The paper develops the argument that certain disadvantages which may predispose to illness might overlap with disadvantages that may hinder self-management, potentially becoming disadvantageous in handling chronic disease. If so, chronic diseases may be seen as disadvantages in themselves, describing a reproduction of disadvantage among the chronically ill and a vicious circle of disadvantage that could both predict and shed light on the catastrophic health outcomes among disadvantaged groups-or individuals-dealing with chronic disease.