Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report.
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ABSTRACT:
SUBMITTER: O'Neill SC
PROVIDER: S-EPMC8474818 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Online peer support forums require oversight to ensure they remain safe and therapeutic. As online communities grow, they place a greater burden on their human moderators, which increases the likelihood that people at risk may be overlooked. This study evaluated the potential for machine learning to assist online peer support by directing moderators' attention where it is most needed. OBJECTIVE:This study aimed to evaluate the accuracy of an automated triage system and the extent to which it influences moderator behavior. METHODS:A machine learning classifier was trained to prioritize forum messages as green, amber, red, or crisis depending on how urgently they require attention from a moderator. This was then launched as a set of widgets injected into a popular online peer support forum hosted by ReachOut.com, an Australian Web-based youth mental health service that aims to intervene early in the onset of mental health problems in young people. The accuracy of the system was evaluated using a holdout test set of manually prioritized messages. The impact on moderator behavior was measured as response ratio and response latency, that is, the proportion of messages that receive at least one reply from a moderator and how long it took for these replies to be made. These measures were compared across 3 periods: before launch, after an informal launch, and after a formal launch accompanied by training. RESULTS:The algorithm achieved 84% f-measure in identifying content that required a moderator response. Between prelaunch and post-training periods, response ratios increased by 0.9, 4.4, and 10.5 percentage points for messages labelled as crisis, red, and green, respectively, but decreased by 5.0 percentage points for amber messages. Logistic regression indicated that the triage system was a significant contributor to response ratios for green, amber, and red messages, but not for crisis messages. Response latency was significantly reduced (P<.001), between the same periods, by factors of 80%, 80%, 77%, and 12% for crisis, red, amber, and green messages, respectively. Regression analysis indicated that the triage system made a significant and unique contribution to reducing the time taken to respond to green, amber, and red messages, but not to crisis messages, after accounting for moderator and community activity. CONCLUSIONS:The triage system was generally accurate, and moderators were largely in agreement with how messages were prioritized. It had a modest effect on response ratios, primarily because moderators were already more likely to respond to high priority content before the introduction of triage. However, it significantly and substantially reduced the time taken for moderators to respond to prioritized content. Further evaluations are needed to assess the impact of mistakes made by the triage algorithm and how changes to moderator responsiveness impact the well-being of forum members.
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Project description:Current guidelines recommend single variant testing in relatives of patients with known pathogenic or likely pathogenic germline variants in cancer predisposition genes. This approach may preclude the use of risk-reducing strategies in family members who have pathogenic or likely pathogenic germline variants in other cancer predisposition genes. Cascade testing using multigene panels was performed in 3696 relatives of 7433 probands. Unexpected pathogenic or likely pathogenic germline variants were identified in 230 (6.2%) relatives, including 144 who were negative for the familial pathogenic or likely pathogenic variant but positive for a pathogenic or likely pathogenic variant in a different gene than the proband and 74 who tested positive for the familial pathogenic or likely pathogenic variant and had an additional pathogenic or likely pathogenic variant in a different gene than the proband. Of the relatives with unexpected pathogenic or likely pathogenic germline variants, 36.3% would have qualified for different or additional cancer screening recommendations. Limiting cascade testing to only the familial pathogenic or likely pathogenic variant would have resulted in missed, actionable findings for a subset of relatives.
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Project description:In cascade testing, genetic testing for an identified familial pathogenic variant extends to disease-free relatives to allow genetically targeted disease prevention. We evaluated the results of an online initiative in which carriers of 1 of 30 cancer-associated genes, or their first-degree relatives, could offer low-cost testing to at-risk first-degree relatives. In the first year, 1101 applicants invited 2280 first-degree relatives to undergo genetic testing. Of invited relatives, 47.5% (95% confidence interval [CI] = 45.5 to 49.6%) underwent genetic testing, and 12.0% (95% CI = 9.2 to 14.8%) who tested positive continued the cascade by inviting additional relatives to test. Of tested relatives, 4.9% (95% CI = 3.8 to 6.1%) had a pathogenic variant in a different gene from the known familial one, and 16.8% (95% CI = 14.7 to 18.8%) had a variant of uncertain significance. These results suggest that an online, low-cost program is an effective approach to implementing cascade testing, and that up to 5% of the general population may carry a pathogenic variant in 1 of 30 cancer-associated genes.
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Project description:The handling of left ventricular assist devices (LVADs) can be challenging for patients and requires appropriate training. The devices' usability impacts patients' safety and quality of life. In this study, an eye tracking supported human factors testing was performed to reveal problems during use and test the trainings' effectiveness. In total 32 HeartWare HVAD patients (including 6 pre-VAD patients) and 3 technical experts as control group performed a battery change (BC) and a controller change (CC) as an everyday and emergency scenario on a training device. By tracking the patients' gaze point, task duration and pump-off time were evaluated. Patients with LVAD support ≥1 year showed significantly shorter BC task duration than patients with LVAD support <1 year (p = 0.008). In contrast their CC task duration (p = 0.002) and pump-off times (median = 12.35 s) were higher than for LVAD support patients <1 year (median = 5.3 s) with p = 0.001. The shorter BC task duration for patients with LVAD support ≥1 year indicate that with time patients establish routines and gain confidence using their device. The opposite effect was found for CC task duration and pump-off times. This implies the need for intermittent re-training of less frequent tasks to increase patients' safety.
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Project description:Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland and affect more than 12,000 individuals annually. Several hundred of these patients are likely to carry known genetic mutations associated with HBOC or LS. Genetic testing for hereditary susceptibility to cancer can prevent many cancer deaths through early identification and engagement in high-risk management care that involves intensive surveillance, chemoprevention and/or prophylactic surgery. However, current rates of genetic testing indicate that many Swiss mutation carriers and their family members do not use cancer genetic services (counseling and/or testing), either due to lack of coordination of care or due to lack of communication about the mutation among family members.
Cascade screening identifies and tests family members of a known mutation carrier. It determines whether asymptomatic family members are carriers of the identified mutation and proposes management options to reduce harmful outcomes. Robust evidence of basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for HBOC and LS. However, translation of this knowledge into public health interventions is lacking.
Specific Aims of the CASCADE study are:
1. Survey Index Patients diagnosed with HBOC or LS from clinic-based genetic testing records and determine their cancer status and surveillance practices; needs for coordination of medical care; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to serve as advocates for cancer genetic services for blood relatives.
2. Survey first- and second-degree relatives, and first cousins identified from pedigrees and/or family history records of HBOC and LS Index Patients and determine their cancer and mutation status; cancer surveillance practices; needs for coordination of medical care; barriers and facilitators to using cancer genetic services; psychosocial needs; patient-provider and patient-family communication needs; quality of life; willingness to participate in a study designed to increase use of cancer genetic services.
3. Explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and blood relatives.
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Project description:OBJECTIVES:Patients and caregivers can experience a range of physical, psychologic, and cognitive problems following critical care discharge. The use of peer support has been proposed as an innovative support mechanism. DESIGN:We sought to identify technical, safety, and procedural aspects of existing operational models of peer support, among the Society of Critical Care Medicine Thrive Peer Support Collaborative. We also sought to categorize key distinctions between these models and elucidate barriers and facilitators to implementation. SUBJECTS AND SETTING:Seventeen Thrive sites from the United States, United Kingdom, and Australia were represented by a range of healthcare professionals. MEASUREMENTS AND MAIN RESULTS:Via an iterative process of in-person and email/conference calls, members of the Collaborative defined the key areas on which peer support models could be defined and compared, collected detailed self-reports from all sites, reviewed the information, and identified clusters of models. Barriers and challenges to implementation of peer support models were also documented. Within the Thrive Collaborative, six general models of peer support were identified: community based, psychologist-led outpatient, models-based within ICU follow-up clinics, online, groups based within ICU, and peer mentor models. The most common barriers to implementation were recruitment to groups, personnel input and training, sustainability and funding, risk management, and measuring success. CONCLUSIONS:A number of different models of peer support are currently being developed to help patients and families recover and grow in the postcritical care setting.
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Project description:BackgroundThe development of Electronic Health Records (EHRs) in hospitals offers the ability to reuse data from patient care activities for clinical research. EHR4CR is a European public-private partnership aiming to develop a computerized platform that enables the re-use of data collected from EHRs over its network. However, the reproducibility of queries may depend on attributes of the local data. Our objective was 1/ to describe the different steps that were achieved in order to use the EHR4CR platform and 2/ to identify the specific issues that could impact the final performance of the platform.MethodsWe selected three institutional studies covering various medical domains. The studies included a total of 67 inclusion and exclusion criteria and ran in two University Hospitals. We described the steps required to use the EHR4CR platform for a feasibility study. We also defined metrics to assess each of the steps (including criteria complexity, normalization quality, and data completeness of EHRs).ResultsWe identified 114 distinct medical concepts from a total of 67 eligibility criteria Among the 114 concepts: 23 (20.2%) corresponded to non-structured data (i.e. for which transformation is needed before analysis), 92 (81%) could be mapped to terminologies used in EHR4CR, and 86 (75%) could be mapped to local terminologies. We identified 51 computable criteria following the normalization process. The normalization was considered by experts to be satisfactory or higher for 64.2% (43/67) of the computable criteria. All of the computable criteria could be expressed using the EHR4CR platform.ConclusionsWe identified a set of issues that could affect the future results of the platform: (a) the normalization of free-text criteria, (b) the translation into computer-friendly criteria and (c) issues related to the execution of the query to clinical data warehouses. We developed and evaluated metrics to better describe the platforms and their result. These metrics could be used for future reports of Clinical Trial Recruitment Support Systems assessment studies, and provide experts and readers with tools to insure the quality of constructed dataset.
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Project description:BACKGROUND:Peer support can enable patient engagement with healthcare services, particularly for marginalised populations. In this randomised controlled trial, the efficacy of a peer support intervention at promoting successful engagement with clinical services for chronic hepatitis C was assessed. METHODS:In London, UK, potential participants were approached through outreach services for problematic drug use and homelessness. Individuals positive for hepatitis C virus (HCV) after confirmatory testing were randomised using an online service to the intervention (peer support) or standard of care. The primary outcome of interest was successful engagement with clinical hepatitis services. The study was non-blinded. Absolute differences were calculated using a generalised linear model and the results compared to logistic regression. RESULTS:Three hundred sixty-four individuals consented to participate. One hundred one had chronic hepatitis C and were randomised, 63 to receive the intervention (peer support). A successful outcome was achieved by 23 individuals in this arm (36.5%) and seven (18.4%) receiving the standard of care, giving an absolute increase of 18.1% (95% confidence interval 1.0-35.2%, p value?=?0.04). This was mirrored in the logistic regression (odds ratio 2.55 (0.97-6.70), p?=?0.06). No serious adverse events were reported. CONCLUSIONS:Peer support can improve the engagement of patients with chronic HCV with healthcare services. TRIAL REGISTRATION:ISRCTN24707359 . Registered 19th October 2012.
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