Population Screening Programs Research Articles

Implementation of polygenic risk scores in secondary prevention of (breast) cancer

Abstract Utilizing polygenic risk scores to inform secondary prevention of breast cancer via population screening programs is one of the pioneering applications of genomics in public health applications. Over the last decade, polygenic risk scores for breast cancer have been developed and validated in various European populations (AUC ± 0.63, OR per Z unit ± 1.6, depending on the population). In some countries, the polygenic risk score has been integrated with decision modeling tools, such as CanRisk in the Netherlands, and low-level implementation into health and care systems has started. Implementation strategies vary, but generally consider initial implementation into high-risk populations, such as breast cancer families, in specialized clinical setting, such as academic medical centres, or specialized cancer clinics, referring relatives of patients to population screening based on comprehensive risk modelling, including polygenic risk scores. This route may be followed by other disease fields as well. The presentations outlines the current evidence and considerations on breast cancer genetic risk modelling, clinical pilot studies and the outline of step-wise implementation of such models to benefit secondary prevention programs. We start from the perspective of a single hospital, to the needed steps to upscale to national populations, both in diversity of these populations, as the throughput of genetic testing and counselling, until the harmonization and recalibration of various European healthcare models. We draw from examples of the Genotyping on all patients (GOALL), building cancer health platforms (CanHeal) and Genome of Europe (GoE) consortia.

Determinants of tuberculosis site among 1035 cases in Frankfurt, 2008-2023: does lineage matter?

Abstract Extrapulmonary tuberculosis (EPTB) presents with nonspecific symptoms which can pose a diagnostic challenge. Currently, there are no clear predictors for EPTB. We aimed to identify these factors for better diagnosis and disease control. We included tuberculosis cases reported in Frankfurt from 2008-2023, with available clinical and whole genome sequencing data. According to WHO criteria, cases with pulmonary or combined pulmonary and extrapulmonary symptoms were categorised as pulmonary tuberculosis, while exclusively extrapulmonary symptoms were categorised as extrapulmonary tuberculosis. We assessed the association between EPTB and M. tuberculosis lineage, comorbidities and demographic characteristics using logistic regression, calculating crude and adjusted odds ratios (aOR). Of the 1035 reported tuberculosis cases, 272 had exclusively extrapulmonary disease and 136 had both pulmonary and extrapulmonary disease. In the univariable analysis, lineages 1 and 3 were significantly associated with extrapulmonary disease compared to lineage 4. However, this association was not observed in the multivariable analysis. In the final regression model, females were more likely to develop EPTB than men (aOR: 1.65, CI: 1.19-2.27). The odds of developing extrapulmonary disease were higher among patients born in the South-East Asian (aOR: 6.48, CI: 3.72-11.43) and Eastern Mediterranean (aOR: 5.54, CI: 3.41-9.11) than in other regions. Among the comorbidities, diabetes was found to be negatively associated with extrapulmonary disease (aOR: 0.50, CI: 0.26-0.91). Our results indicate that host factors such as geographic origin and sex are stronger predictors for extrapulmonary presentation of tuberculosis than a specific lineage. We recommend increasing physicians’ awareness of the nonspecific presentation of EPTB and adapting screening programmes, particularly for patients from South-East Asian and Eastern Mediterranean regions to foster more effective tuberculosis control measures. Key messages • Our study highlights the importance of considering host factors in predicting extrapulmonary tuberculosis, indicating their stronger influence compared to specific M. tuberculosis lineages. • Increased physicians’ awareness of the nonspecific symptoms of EPTB and targeted screening programs for high-risk populations are crucial for enhancing tuberculosis control measures.

The future of screening and early detection in the Netherlands: a foresight study to support new screening policy strategies

Abstract The Dutch government provides several population screening programmes intended for early detection of diseases so that prompt treatment can be provided. These include population screenings for various forms of cancer and screenings for specific diseases in unborn and newborn children. The future provision of these screenings is influenced by various developments, including the ageing population, economic fluctuations and technological advancements. To understand these developments and their potential impacts on the future of screening and early detection, RIVM has conducted a foresight study based upon a systematic six-step approach. Important steps in this process are building a conceptual framework, identifying important developments via horizon scanning, selecting scenario logics and making scenarios in order to select important challenges and opportunities for the future. The final output of the foresight study consists of a broad horizon scan, two simple future scenarios and four societal perspectives on screening and early detection. In this foresight study, there was special attention for the role of different societal perspectives and the variation in desirable futures that these perspectives entail. These perspectives were presented to the Ministry and other important stakeholders in the future strategy planning, by playing a serious role game. The results of the foresight study and the experience of looking to the future through various perspectives forms the input for the Dutch Ministry of Health, Welfare and Sport in formulating a strategy for the future of screening and early detection and making informed decisions about potential actions. The presentation will focus on how the foresight process was done and how this has informed the Ministry of Health in order for them to follow the next steps in setting future goals and ambitions and planning for a future policy strategy.

Referral and disease patterns of patients treated at the Nicosia General Hospital Breast Centre

Abstract Background Cyprus has one of the lowest mortality rates from breast cancer in Europe. The reasons behind this have not been investigated but it is speculated that the ease of access to Breast Centers in combination with an increased public awareness play a role. The aim of this study was to investigate referral and disease presentation patterns of patients treated at the Nicosia General Hospital (NGH) Breast Centre and define opportunities for effective public health interventions. Methods A retrospective study of all patients (585) with in situ or invasive breast cancer treated at the NGH Breast Centre between February 2017 and November 2023 was conducted. Data on referral sources, symptoms, and cancer stage at the time of diagnosis were analyzed using Stata 18. Results Most patients were referrals from the national population screening program (42.2%), followed by self-referrals (40.6%), and General Practitioner (GP)/or other specialist referrals (17.2%). Half of the patients (50.3%) were asymptomatic at diagnosis. In addition, 8% of the patients diagnosed with invasive breast cancer were Stage I, 65% Stage II, and 27% Stage III. Conclusions Our study provides important insights forming the basis of public health activities for the early detection of breast cancer based on the fact that 20% of newly diagnosed breast cancer cases in Cyprus receive treatment in NGH Breast Center. Although adherence to the national population screening program does not meet desired expectations, a significant proportion of breast cancers were detected via this program highlighting its effectiveness in early detection of asymptomatic cancers. A large proportion of patients were self-referred underlining the high degree of breast cancer awareness in Cyprus but also the media-induced anxiety which leads to early investigations. Key messages • Screening program and breast cancer awareness campaigns are effective in detecting breast cancers early. • These activities should be sustained to further reduce breast cancer mortality rate.

Awareness Regarding Screening Programs in General Population to Improve Health Indicators: Genetic Counselors as Facilitators

Public health screening programs are crucial for early disease detection, but limited awareness hinders their effectiveness in India, regardless of literacy. This study assessed awareness levels for key programs among 294 literate and illiterate individuals via an online survey. Results showed high awareness for antenatal care (96%). Newborn screening (NBS) and thalassemia screening awareness were higher in females, particularly regarding thalassemia's hereditary nature (73% vs 61% and 73% vs 57%). Cervical cancer awareness increased with education (83% for graduates). Interestingly, even those with no education displayed some awareness of breast cancer screening. Prostate cancer awareness was similar across genders, with limited knowledge even among highly educated individuals (66% for Ph.Ds). These findings highlight a critical gap in public health education. Genetic counselors can bridge this gap by implementing targeted campaigns, partnering with schools and communities, and collaborating with healthcare professionals. Empowering individuals with knowledge is essential for improved population health outcomes in India.

The global status of genetic counselors in 2023: What has changed in the past 5 years?

PurposeThe profession of genetic counselors has existed for over 50 years. This article provides an update on the global state of the genetic counseling (GC) profession in 2022 and 2023. MethodsWe used a survey approach to collect data from individuals who were identified as being leaders in GC practice and/or education around the world. ResultsBased on responses provided between October 2023 and January 2024, we estimate that there are over 10,250 genetic counselors in over 45 countries around the world. These numbers have increased significantly in the past 5 years, when there were ∼7000 genetic counselors. Key factors identified as driving the increase in genetic counselors are the number of training programs that have developed (>130 globally, mostly at a master’s degree level) and a growing number of national biobanks and/or population screening programs that require GC as part of the process. There is tremendous variability in how genetic counselors are regulated, with only a few countries holding national statutory regulation processes. There are many commonalities, but the GC profession appears nuanced to their specific country and its wider socio-political context and history. ConclusionWe hope that genetic counselors internationally will come together to assist each other in all aspects: training, statutory regulation, developing the workforce, and establishing GC as an academic discipline. We envision that establishing an international organization for the profession of genetic counselors might maintain such international connections and provide relevant data in future years.

Preferences for Peer Support Amongst Families Engaged in Paediatric Screening Programmes: The Perspectives of Parents Involved in Screening for Type 1 Diabetes in Children Aged 3-13.

This work describes a secondary analysis of a qualitative data set originally used to understand parent participants' preferences for the design and implementation of a screening programme for paediatric Type 1 diabetes (T1D). From this, their spontaneous preferences for peer support emerged, described here in the context of existing peer support programmes for the newly diagnosed alongside suggestions for their incorporation into screening programmes for T1D and a range of other conditions. Data were collected from semi-structured interviews conducted with parents of children aged 3-13 years to explore their expectations, perceptions and preferences of a T1D paediatric screening programme. A secondary analysis of interviews from participants who spontaneously raised preferences for peer support was used to populate a novel framework informed by NHS England's key principles for the same, namely, Shared experiences and reciprocated support, Accessibility and inclusivity and Person-centred and integrated peer support. Parents in 29 of 33 interviews spontaneously described the potential value of peer support if receiving a result indicating a positive (presymptomatic T1D result) from a screening programme. Specifically, the value of 'Shared experiences and reciprocated support' in terms of emotional support and reassurance, and access to more directly interpretable and relevant information related to the condition; 'Accessibility and inclusivity' relating to access to a community of similar individuals, whether in person or online; 'Person-centred and integrated peer-support' and the need for support reflecting the changing need of the child and the integration of peer support with clinical care. The needs of peer support described by parents involved in T1D paediatric screening appear to be shared with those of families with children diagnosed with a range of life-altering conditions. Although the needs of peer support for paediatric screening may differ across conditions, our findings are a valuable starting point for its design both in T1D and other examples of similar population screening programmes. Patients and the public have been involved throughout the design of the ELSA study and have worked with us to inform the study process. They contributed to the design and content of patient-facing materials, the content of our topic guides and the analysis and interpretation of our findings.

Dried blood spot-based free sterol signatures in sitosterolemia diagnostics

BackgroundSitosterolemia is a rare inherited lipid metabolic disorder characterized by increased levels of plant sterols and accelerated atherosclerosis. Although early detection is beneficial for the prevention of disease progression, it is largely underdiagnosed by routine screening based on conventional lipid profiles. Materials and methodsA gas chromatography-mass spectrometry (GC–MS)-based profiling has been developed and validated to measure the levels of biologically active free sterols, including five endogenous sterols and three plant sterols (sitosterol, campesterol, and stigmasterol) in dried blood spot (DBS). ResultsWithin- and between-run precisions were 1.4–11.1 % and 2.2–14.1 %, respectively, while the accuracies were all 86.3 ∼ 121.9 % with the correlation coefficients (r2) > 0.988 for all the sterols. In the patients (four girls and two boys, 6.5 ± 2.8 years), sitosterol levels were significantly increased, with an optimal cut-off value of 2.5 µg/mL distinguishing them from ninety-three age-matched healthy children. A cut-off value of 31.9 µg/mL differentiated the patients from six ABCG5/ABCG8 heterozygous carriers. In addition, the molecular ratios of sitosterol to cholesterol, desmosterol, and 7-dehydrocholesterol provided excellent cut-off values of 26.3, 67.6, and 21.6, respectively, to distinguish patients from both healthy controls and heterozygous carriers. ConclusionsThe novel DBS-based GC–MS profiling of free sterols accurately identified patients with sitosterolemia, with a performance comparable to that of a serum assay. The DBS profiling could be more feasible method in clinical practice as well as population screening programs, and it can provide diagnostic cut-off values for individual plant sterols.

Assessment of the acceptability and feasibility of HIV self-testing in vulnerable population groups in Togo

Background: The aim of this study was to assess the acceptability and feasibility of HIV self-testing in vulnerable population groups. Methods: This was a quantitative and qualitative study conducted in April 2022 in thirteen pilot centers of the national AIDS program. The target populations were men who had sex with men (MSM), female sex workers (FSWs), and street adolescents. Results: During the study period, 802 people were included in this study, among whom 51.4% were male. The study population consisted mainly of FSWs (34.4%), MSM (24.4%), and people from the general population (23.2%). The median age of the participants was 23 years, ranging from 13 to 77 years. The overall acceptability of the self-test was estimated to be 97.1% (n = 779). Six participants refused to do it immediately yet suggested that they might do it later, and 17 (2.1%) outright refused to do it. Acceptability was 100% among street adolescents, transgender people, and drug users. The lowest level of acceptability (93.5%) was found among the FSWs. Self-testing was considered feasible for 99.7% (n = 777) IC95% (99.1-100.0) of the participants. Conclusion: Our study showed that self-testing is a highly acceptable and practical strategy for MSM, FSWs, and adolescents in Togo. Therefore, in order to accelerate the implementation of population screening programs in our country, it is important to bring all innovative interventions to scale if we are to achieve the UNAIDS 95-95-95 targets by 2026. Key words: Autoimmune bullous dermatoses, Pemphigus, Bullous pemphigoid, Togo

Clinical evaluation of an artificial intelligence-assisted cytological system among screening strategies for a cervical cancer high-risk population

BackgroundPrimary cervical cancer screening and treating precancerous lesions are effective ways to prevent cervical cancer. However, the coverage rates of human papillomavirus (HPV) vaccines and routine screening are low in most developing countries and even some developed countries. This study aimed to explore the benefit of an artificial intelligence-assisted cytology (AI) system in a screening program for a cervical cancer high-risk population in China.MethodsA total of 1231 liquid-based cytology (LBC) slides from women who underwent colposcopy at the Chinese PLA General Hospital from 2018 to 2020 were collected. All women had received a histological diagnosis based on the results of colposcopy and biopsy. The sensitivity (Se), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), false-negative rate (FNR), overall accuracy (OA), positive likelihood ratio (PLR), negative likelihood ratio (NLR) and Youden index (YI) of the AI, LBC, HPV, LBC + HPV, AI + LBC, AI + HPV and HPV Seq LBC screening strategies at low-grade squamous intraepithelial lesion (LSIL) and high-grade squamous intraepithelial lesion (HSIL) thresholds were calculated to assess their effectiveness. Receiver operating characteristic (ROC) curve analysis was conducted to assess the diagnostic values of the different screening strategies.ResultsThe Se and Sp of the primary AI-alone strategy at the LSIL and HSIL thresholds were superior to those of the LBC + HPV cotesting strategy. Among the screening strategies, the YIs of the AI strategy at the LSIL + threshold and HSIL + threshold were the highest. At the HSIL + threshold, the AI strategy achieved the best result, with an AUC value of 0.621 (95% CI, 0.587–0.654), whereas HPV testing achieved the worst result, with an AUC value of 0.521 (95% CI, 0.484–0.559). Similarly, at the LSIL + threshold, the LBC-based strategy achieved the best result, with an AUC of 0.637 (95% CI, 0.606–0.668), whereas HPV testing achieved the worst result, with an AUC of 0.524 (95% CI, 0.491–0.557). Moreover, the AUCs of the AI and LBC strategies at this threshold were similar (0.631 and 0.637, respectively).ConclusionsThese results confirmed that AI-only screening was the most authoritative method for diagnosing HSILs and LSILs, improving the accuracy of colposcopy diagnosis, and was more beneficial for patients than traditional LBC + HPV cotesting.

Adherence to guideline recommendations for follow-up in patients with DCIS at a large teaching hospital in the Netherlands.

Ductal-carcinoma in situ (DCIS) is a pre-invasive form of breast cancer with good prognosis. Follow-up guidelines in the Netherlands are currently the same as for invasive breast cancer. Due to fear of invasive breast cancer or recurrence, it is hypothesized that follow-up for DCIS after treatment is more intense in practice resulting in potentially unnecessary high costs. This study investigates the follow-up in practice for patients with DCIS compared to the recommendations in order to inform clinicians and policy makers how to utilize these guidelines. Patients diagnosed with pure DCIS between 2004 and 2014 were followed up until 2018. Information on duration and frequency of follow-up visits, reasons and decision makers for shortening, and prolonging follow-up was collected. Prolonged follow-up was defined as deviation from the Dutch guideline: more than 5years of follow-up and older than 60years. Of the 227 patients the mean number of visits per year was 1.4 and mean years of follow-up was 6.0. Thirty-three percent had prolonged follow-up and 26% shorter follow-up than recommended. A majority (78%) of decision for prolonged follow-up was being made by clinicians. Follow-up duration is in almost half of patients with DCIS according to guidelines and with most prolonged follow-up only up to a year longer than recommended. In most cases suspicious findings and the timing of the population screening program appeared to cause prolonged follow-up. If accepted by patients and clinicians, future DCIS specific guidelines should address these reasons and tailor to the individual risks.

Current and Future Perspectives on the Management of Helicobacter pylori: A Narrative Review.

The prevalence of Helicobacter pylori (H. pylori), a pathogen, has decreased globally in the last decade. To date, the management of H. pylori has focused on a reactive approach, whereby those diagnosed are treated with antimicrobials and acid suppression in combination. This review article provides an overview of the shift in the management of H. pylori from a reactive approach towards a proactive 'screen and treat' approach; the article reflects the current pharmacological landscape for H. pylori treatment by exploring similarities such as the first-line prescription of quadruple therapy in most countries and provides a summary table of the best practice guidance from Europe, Asia, and North America. It explores significant ongoing challenges in management, such as rising antimicrobial resistance rates, and explores a potential 'work smart' approach to antimicrobial susceptibility testing. We explore the role of registry databases in providing data on treatment efficacy and safety and how they can support a strategic approach to H. pylori treatment. We question if such a database's availability, update, and regular audit should serve as a key quality indicator in a population screening programme. Despite a call for vaccination against H. pylori and decades of research, not many have made it to a phase-three clinical trial. We explore the challenges that have complicated the development of such a vaccine, such as the genetic diversity of H. pylori, immunotolerance, and limitations of mouse models in research; we reflect on how these challenges are contributing to a low likelihood of having a vaccine in the short-medium term. Lastly, it explores the heterogeneity in research on probiotics and their role as an adjunct in the management of H. pylori.

Strategic analysis and recommendations of the Sociedad Española de Patología Digestiva (SEPD) regarding population-based screening programs for colorectal cancer in Spain.

population-based screening programs are effective to reduce colorectal cancer-related mortality and incidence. However, given their complex development, sound organization and design do not warrant success. This study provides a strategic analysis of the Spanish programs, as well as recommendations in an attempt to contribute to their optimization. a multidisciplinary panel of researchers, supported by the Sociedad Española de Patología Digestiva (SEPD), has performed a SWOT (strengths, weaknesses, opportunities and threats) analysis, from which a proposal of recommendations was developed; their adequacy was judged using an adapted version of the RAND/UCLA method. 5 weaknesses, 3 threats, 5 strengths and 5 opportunities were identified, and a total of 15 recommendations were developed emphasizing aspects with room for improvement in program orientation, particularly the need to increase participation, fight variability and inequities, improve information processes and systems quality, ensure specific, adequate funding, and evaluate health results. promoting an operational collaboration framework between all the public health and care levels involved should facilitate effective communication with society regarding the benefits of taking part in population screening programs while persuading decision and policy makers of the critical importance of taking an active, determined stance regarding its implementation.

Effect of polygenic risk score for clinically significant prostate cancer in a screening program: The BARCODE 1 study results.

10500 Background: Incidence of prostate cancer (PCa) is increasing, but there is no internationally agreed population screening program. Studies using an age-based PSA approach show a high rate of false-positive results as well as over-diagnosis of indolent PCa. Genome wide association studies identify common germline variants to calculate a polygenic risk score (PRS) associated with PCa risk. The BARCODE1 study used PRS to target PCa screening to those at higher risk based on genotype. Methods: European men aged 55-69yrs were recruited via Primary Care in the UK. PRS was constructed by summing weighted risk alleles for 130 PCa risk variants using germline DNA from saliva samples via mailed kits. Men with a PRS > 90th centile were invited for PCa screening using MRI and 12-core transperineal biopsy (including MRI fusion to target additional lesions where identified) irrespective of PSA result. Results: Invitation letters were sent to 40,292 men. 8,953 (22%) expressed an interest; 8,014 were eligible and sent a saliva kit. 6,644 consented; 6,393 were genotyped; 251 failed QC. A total of 6,142 participants had PRS calculated: 745 (12.1%) had a PRS > 90th centile and were invited to screening. 558/745 participants attended screening (121 declined, 66 excluded on health grounds). 551 underwent MRI and 468 had prostate biopsy resulting in 187 (40.0%) diagnoses of PCa, overall PCa detection rate 2.8%. Mean age at diagnosis 64.1yrs (range 57-73; median 64). Using NCCN criteria (2023) 103/187 (55.1%) of cancers were Intermediate or High Risk; 40/187 (21.4%) were Intermediate Unfavourable/High/Very High Risk. 119/187 (63.6%) men had a PSA <3.0ug/L; PPV of biopsy for PSA > 3.0ug/L was 49.6%. PPV of MRI (presence of PI-RADS 3-5 lesion) 60.4%. PPV of PRS alone 40%. 103/187 (55.1%) had Gleason >7; compared with 360/1014 (35.5%) p < 0.001 in the PSA directed ERSPC study. Conclusions: A population PCa screening program using PRS risk-stratification enriches for clinically significant PCa requiring treatment. It detects a high proportion of clinically significant disease compared with PSA or MRI based screening programs and MRI missed a significant proportion (17-67%) of cancers found on biopsy. This is the first study to assess if this approach will be useful in population screening programs. Clinical trial information: NCT03857477 . [Table: see text]

Unveiling the Younger Face of Gastric Cancer: A Comprehensive Review of Epidemiology, Risk Factors, and Prevention Strategies.

Gastric cancer poses a significant global health challenge, with high incidence and mortality rates each year. Despite advancements in screening and treatment, late detection remains a critical issue. Efforts to address this include raising public awareness and implementing targeted screening programs for high-risk populations. The increasing incidence of gastric cancer among younger individuals underscores the need for lifestyle adjustments and targeted interventions to mitigate risks and improve outcomes. Understanding the various factors contributing to gastric cancer risk is essential for effective prevention strategies, including Helicobacter pylori eradication, lifestyle modifications, and regular screening for high-risk groups. A comprehensive approach addressing both individual behaviors and broader societal factors is crucial in the fight against gastric cancer. This review provides an in-depth examination of gastric cancer epidemiology, risk factors, preventive measures, and screening initiatives, with a particular focus on the rising incidence among younger demographics. Emphasizing the importance of early detection and intervention, the review highlights the need for proactive screening to improve patient outcomes and reduce mortality rates. By addressing these aspects comprehensively, this paper aims to enhance the understanding of gastric cancer dynamics, particularly its incidence among younger individuals, and to inform future strategies for prevention and control.

Abstract PO4-07-09: CONTRAST-ENHANCED MAMMOGRAPHY IN LOCAL STAGING OF SCREEN-DETECTED BREAST CANCER: ADDITIONAL LESIONS AND CHANGES TO CLINICAL MANAGEMENT

Abstract Background BreastScreen Australia, a mammographic population screening program, provides assessment of suspected breast cancer to the point of diagnosis using a combination of conventional imaging and percutaneous biopsy. Comprehensive local staging, not performed at BreastScreen, determines the extent of disease and may identify additional clinically significant breast abnormalities. Local staging options include completion of bilateral mammographic work-up, ultrasound, and/or contrast-based imaging (CBI) (magnetic resonance imaging (MRI) or contrast-enhanced mammography (CEM)), with biopsy as required. We introduced CBI for local staging after diagnosis of screen-detected cancer at our academic hospital breast service in Melbourne, Australia. We report diagnostic findings for otherwise occult disease and their impact on treatment decisions in women who underwent CEM for local staging. Material and methods Women with screen-detected breast cancer who underwent CEM for local staging between November 2018 to April 2022 were identified retrospectively. The reporting breast-specialised radiologist compared BreastScreen and CEM images to identify additional enhancing abnormalities. Additional abnormalities were further investigated with preoperative percutaneous biopsy, surgical biopsy, or problem-solving CBI. Additional CEM-detected abnormalities were documented, with invasive cancer or DCIS recorded as true positive (TP) and any other findings as false positive (FP). Impact on surgical decisions was assessed. Results 204 patients underwent CEM. 62/204 (30%) patients had 76 additional abnormalities, of which 36 (47%) were TP and 40 (53%) FP. CEM identified otherwise occult malignant lesions in 30/204 (15%) patients. TPs comprised 75% invasive cancers and 25% DCIS. 83% (30/36) of malignant abnormalities were ipsilateral to the index lesion, while 17% (6/36) were contralateral. The majority of additional invasive cancers were Grade 2 (20/27, 74.1%), followed by Grade 1 (4/27, 14.8%) then Grade 3 (3/27, 11.1%). All additional invasive cancers had the same phenotype as the patient’s index cancer (ER+/HER2-), except for one abnormality which was ER+/HER2+ where the index cancer was ER+/HER2-. The FP abnormalities consisted of normal breast tissue (20/40, 50%), benign lesions (16/40, 40%) and atypical proliferative lesions (4/40, 10%). Occult malignancies were more common for patients with higher background parenchymal enhancement (20% for moderate/marked vs 4% for minimal/mild, p=0.0023), with no statistically significant differences found by breast density (BIRADS A or B = 12%, vs BIRADS C or D = 20%, p=0.23) or by age (40-49=38%, 50-59=13%, 60-69=13%, ³70=19%, p=0.88). Additional abnormalities found on CEM resulted in surgical management change in 45/204 (22%) patients, including wider resection (24/45), conversion to mastectomy (8/45), contralateral breast surgery (6/45), additional ipsilateral excision (5/45), and bracketing (2/45). Conclusions The use of CEM for local staging of screen-detected breast cancers identified otherwise occult malignancy in 15% of patients. Age and mammographic density did not identify groups at minimal risk of additional findings. Pathology of additional malignancy suggests it is clinically significant. CEM may improve local staging and direct appropriate management of screen-detected breast cancers. Citation Format: Caroline MacCallum, Kenneth Elder, Carolyn Nickson, Kelly Ruecker, Allan Park, Bruce Mann. CONTRAST-ENHANCED MAMMOGRAPHY IN LOCAL STAGING OF SCREEN-DETECTED BREAST CANCER: ADDITIONAL LESIONS AND CHANGES TO CLINICAL MANAGEMENT [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO4-07-09.

MASKED HYPERTENSION IN PATIENTS WITH METABOLIC DYSFUNCTION-ASSOCIATED STEATOTIC LIVER DISEASE – AN UNDERESTIMATED RISK?

Objective: Metabolic dysfunction-associated steatotic liver disease (MASLD) and hypertension are major cardiovascular risk factors sharing a bi-directional relationship. Although nearly half of MASLD patients are suffering from arterial hypertension, data on the prevalence of different hypertension phenotypes (e.g. masked hypertension) in this patient population are scarce. Masked hypertension, which is defined by normal office blood pressure but elevated blood pressure in the ambulatory 24-hour blood pressure measurement (24-h-ABPM), often remains undetected, although it has a comparable risk for adverse cardiovascular events as sustained hypertension. Therefore, the identification of this hypertension phenotype in MASLD patients seems highly relevant. Design and method: To analyze the prevalence of masked hypertension and to improve hypertension management in MASLD patients we integrated a 24-h-ABPM-based hypertension screening and control program among MASLD patients in our outpatient liver department. A total of 226 MASLD patients were recruited during regular follow-up visits and recording of office blood pressure and 24-h-ABPM measurements were performed according to a standardized protocol. Results: For the final analysis, 218 data sets were evaluated. The median age of the included 218 patients was 51 years, 48.2% were female. 101 (46.3%) MASLD patients had prior history of hypertension. At the time of ABPM 93 (92.1%) of these patients received antihypertensive treatment. Masked hypertension was identified in 46 (21.1%) MASLD patients, 20 (43.5%) of whom were receiving antihypertensive treatment (masked uncontrolled hypertension). Interestingly, 14 (30.4%) MASLD patients with masked hypertension had isolated nocturnal masked hypertension. Furthermore, a non-dipping blood pressure pattern was recognized in 28 (60.9%) MASLD patients with masked hypertension. Conclusions: Due to the high rates of masked hypertension and abnormal nocturnal blood pressure dipping, which both represent important risk factors for adverse cardiovascular events, the establishment of hypertension screening and management programs in this high-risk population seems urgently needed. Controlled hypertension reduces the risk of cardiovascular events in this vulnerable population and, due to the strong link between MASLD and hypertension, possibly also slow the progression of MASLD to advanced liver fibrosis or cirrhosis.

CBE based population screening program in breast cancer in West Bengal India: A data analysis between 2020 and 2023

CBE based population screening program in breast cancer in West Bengal India: A data analysis between 2020 and 2023

Obesity prevalence in adults and patients with hepatitis C: results from screening a population of 50 million in Egypt

Obesity is a global health problem and has been increasing in Egypt over the last several decades. A national population screening program for hepatitis C included screening for obesity. Here we report the outcome of body mass index (BMI) calculation for the screened population and for patients with hepatitis C.Methods Adults 18 years and older (a target population of 62.5 million) were invited to participate in a screening program between October 2018 and April 2019. Persons had their BMI calculated. All data were entered in real-time to a central database via cellular networks. BMI data for patients with hepatitis C virus (HCV) infection before starting direct antiviral therapy were obtained from the National Committee for the Control of Viral Hepatitis (NCCVH)Findings 49.6 million persons (25.6 million females and 24.0 million males) voluntarily participated and had valid height and weight data. 12.7 million females (49.51%) and 7.09 million males (29.53%) were affected by obesity (BMI ≥ 30kg/m2). Obesity increased with age, was more prevalent in females, was more prevalent in the Nile Delta states and in urban areas. Detailed district-level prevalence for the whole country is identified. Prevalence of obesity among 335,504 patients with HCV was higher in females, increased with age, and was significantly lower overall and in males and females than in the screened general population.Conclusion This is the largest population screening program for obesity. We show that obesity prevalence in the general population is currently among the highest in the world, starting in young adults, and highlight the high prevalence areas. Prevalence is lower in patients with HCV.

Detection of Islet Autoantibodies in Whole Blood by Antibody Detection by Agglutination-PCR (ADAP) Technology Is Sensitive and Suitable for General Population Screening Programs

Background. Detection of type 1 diabetes (T1D) at the preclinical stage is possible by detecting islet autoantibodies (IAs) years before the appearance of symptomatic diabetes. The Antibody Detection Israeli Research is a general population screening program searching for children with multiple IAs who are at risk of developing T1D. IAs are measured in capillary or venous whole blood (WB) samples using the novel ultrasensitive antibody detection by agglutination-PCR (ADAP) technology. Objective. To assess the accuracy and reliability of the ADAP assay in venous and capillary WB. Materials and Methods. In total, 50 children with T1D and 50 healthy controls participated in the study. Venous and capillary blood samples were drawn from participants with T1D, while only venous blood was drawn from the controls. The ADAP assay in venous and capillary blood was compared to the currently used assays in their ability to detect glutamic acid decarboxylase (GADA), islet antigen-2 (IA-2A), and insulin autoantibodies (IAAs). Results. The area under the curve using the receiver operating characteristic curves was comparable between the ADAP assay in WB and standard enzyme-linked immunosorbent assay (ELISA)/radioimmunoassay (RIA) for all three IAs GADA 0.946 (95% CI: 0.900–0.991) vs. 0.949 (0.906–0.992), P=0.873; IA-2A 0.747 (0.649–0.844) vs. 0.666 (0.587–0.744), P=0.106; IAA 1.000 (1.000–1.000) vs. 1.000 (1.000–1.000), P=1.000. The correlation between the levels of IA in venous and capillary WB using ADAP was R2 = 0.958 (P <0.01), R2 = 0.943 (P <0.01), and R2 = 0.711 (P <0.01) for GADA, IA-2A, and IAA, respectively. IA levels in venous and capillary WB using ADAP were comparable without a proportional bias in Bland–Altman’s plots of agreement, suggesting the two methods may be used interchangeably. Conclusions. The ADAP assay is reliable in detecting IA in venous and capillary WB samples with comparable performance to standard RIA and ELISA. These findings open avenues for widespread use of the ADAP assay in future general population screening programs to detect children at risk of developing T1D.