Background: Health interventions delivered by digital platforms are gaining popularity and are evolving to address the needs of patients with chronic diseases. The heterogeneity of chronic diseases requires that digital health platforms vary in their approaches to chronic disease management. Objective: This review aimed to explore the characteristics of digital health platforms and the corresponding digital interventions developed to support patients with chronic diseases. This includes those platforms’ design, development, and the metrics by which any incremental benefits they provide are assessed. Methods: We searched electronic databases including Scopus, Web of Science, PsycINFO, IEEE Xplore, MEDLINE, and Embase. Relevant articles published from January 2013 to November 2024 were extracted. Extracted data were then synthesized using qualitative content analysis and presented in narrative form with relevant tables. Results: In total, we identified 69 digital health platforms supporting the management of 20 chronic diseases. Most platforms were mobile apps (n=22) or a combination of web and mobile apps (n=15). Most of the platforms (n=44) were tailored to support self-management of chronic diseases. These platforms also provided a web-based portal where health care providers could review and manage the information recorded by patients. In 77% (53/69) of the studies, patients reported that the digital interventions delivered by the platform improved their quality of life, their health, and their ability to self-manage their chronic diseases. In addition, health care providers reported positive outcomes, including improved clinical utility and patient communication. While short-term health outcomes of the digital health interventions were largely positive, long-term health outcomes remain unknown. This was because most of the studies were short-term pilots and often formative in nature (n=42). Many had limited sample sizes, limited participant uptake of the digital platforms, and technical issues. In many cases, further personalization of platforms was required to meet patients’ self-management needs. Conclusions: Digital health interventions can be beneficial in the management of chronic disease. The adoption of digital interventions in combination with regular clinical care can improve health outcomes, support self-management, and enhance communication between patients and health care providers. However, long-term user engagement is the major barrier to their long-term success. High dropout rates, often resulting from a lack of motivation or technical issues, testify to the need for adaptive, low-burden interventions that function seamlessly in users’ daily lives. Adopting user-centered and co-design approaches that engage both clinicians and patients in designing digital health platforms may enhance the usability and uptake of such platforms.

Purpose To assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) compared with periodical clinical surveillance. Methods A decision-analytic model, combining a decision tree and a Markov model, was used to determine the lifetime costs and quality-adjusted life years (QALYs) for the two strategies. Deterministic and probabilistic sensitivity analyses were undertaken to assess the robustness of findings and to explore decision uncertainty. Results The incremental cost per additional QALY of cascade genetic testing prior to periodical clinical surveillance of first-degree relatives compared with periodical clinical surveillance alone was estimated at approximately AUD $6100. At established thresholds of cost-effectiveness, there is a 90% probability that cascade genetic testing is cost-effective. Extensive sensitivity analyses, including the addition of second-degree relatives, did not alter the conclusions drawn from the main analysis. Conclusion Using cascade genetic testing to guide clinical surveillance of asymptomatic relatives of patients with DCM is very likely to be cost-effective. As the DCM pathogenic variant detection rate rises and new evidence for personalized treatment of at-risk individuals becomes available, the cost-effectiveness of cascade testing will further increase.

PALB2 is emerging as a high-penetrance breast cancer predisposition gene in the order of BRCA1 and BRCA2. However, large studies that have evaluated the full gene rather than just the most common variants in both cases and controls are required before all truncating variants can be included in familial breast cancer variant testing. In this study we analyse almost 2000 breast cancer cases sourced from individuals referred to familial cancer clinics, thus representing typical cases presenting in clinical practice. These cases were compared to a similar number of population-based cancer-free controls. We identified a significant excess of truncating variants in cases (1.3 %) versus controls (0.2 %), including six novel variants (p = 0.0001; odds ratio (OR) 6.58, 95 % confidence interval (CI) 2.3–18.9). Three of the four control individuals carrying truncating variants had at least one relative with breast cancer. There was no excess of missense variants in cases overall, but the common c.1676A > G variant (rs152451) was significantly enriched in cases and may represent a low-penetrance polymorphism (p = 0.002; OR 1.24 (95 % CI 1.09–1.47). Our findings support truncating variants in PALB2 as high-penetrance breast cancer susceptibility alleles, and suggest that a common missense variant may also lead to a low level of increased breast cancer risk.

Personal Breast Cancer (BC) Risk Assessments (PBCRA) have potential to stratify women into clinically-actionable BC risk categories. As this could involve population-wide genomic testing, women’s attitudes to PBCRA and views on acceptable implementation platforms must be considered to ensure optimal population participation. We explored these issues with 31 women with different BC risk profiles through semi-structured focus group discussions or interviews. Inductive thematic coding of transcripts was performed. Subsequently, women listed factors that would impact on their decision to participate. Participants’ attitudes to PBCRA were positive. Identified themes included that PBCRA acceptance hinges on result actionability. Women value the ability to inform decision-making. Participants reported anxiety, stress, and genetic discrimination as potential barriers. The age at which PBCRA was offered, ease of access, and how results are returned held importance. Most women value the opportunity for PBCRA to inform increased surveillance, while highlighting hesitance to accept reduced surveillance as they find reassurance in regular screening. Women with BRCA pathogenic variants value the potential for PBCRA to identify a lower cancer risk and potentially inform delayed prophylactic surgery. This study highlights complexities in adopting advances in BC early detection, especially for current users who value existing processes as a social good.