Large-scale Screening Programs Research Articles

Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns.

Genomic sequencing has been proposed as a strategy to expand newborn screening. Perspectives on genomic newborn screening from parents of diverse racial, ethnic, and socioeconomic backgrounds are needed to shape equitable implementation of this modality. We conducted 20 semi-structured interviews (15 English, 5 Spanish) and seven focus groups (4 English, 3 Spanish) with parents from diverse backgrounds to assess their perspectives regarding which disorders and variants might be screened, data privacy, and barriers to pursuing specialized care. Parents felt that genomic newborn screening would provide them with improved understanding of their children's health and had the potential to yield health and personal benefits. Themes that became evident included: interest in childhood and family health risks, the value of emotional preparation and personal planning, understanding of uncertain and low-risk results, concerns regarding data privacy, and concerns about support following the receipt of a positive newborn screening result. The expected benefits and concerns expressed by parents of diverse backgrounds regarding genomic newborn screening should guide future policy decisions. Their preferences should be considered prior to the implementation of large-scale genomic newborn screening programs.

Participation rate and yield of indirect cascade genetic screening for familial hypercholesterolemia using a web-based communication platform (CATCH): a randomized multicenter implementation trial

Abstract Introduction Cascade genetic screening for familial hypercholesterolemia (FH) is poorly performed when direct contact with relatives by health professionals is not allowed. We aimed to compare the effectiveness of implementing a web-based communication platform in a large-scale cascade genetic screening program for FH, while maintaining the confidentiality of indirect family contacts. Methods The CATCH study is a prospective randomized open-label multicenter implementation trial that promotes family cascade genetic screening in Swiss adults older than 16 years with a newly diagnosed pathogenic variant for FH. Each family was randomly assigned to a multigenerational indirect cascade genetic screening (1:1) either via the possibility to use of a web-based platform designed to send pre-prepared text messages or emails, and allowing to connect to a specialized clinical center, or a cascade genetic screening via the local recommended procedure. The primary outcome was the 6-month participation rate of relatives, defined as the number of genetic tests performed within 6 months after referral, over the number of eligible relatives for screening, i.e. living first-degree relatives aged 5 years or older. The secondary outcome was the 6-month yield of positive genetic tests, defined as the number of positive tests over the number of eligible relatives. Both outcome estimates were obtained after accounting for family clusters. Results Between 11/20 and 12/23, we enrolled 221 adults with a phenotype of FH for genetic testing, with 87 of them having confirmed genetic FH, corresponding to a total of 401 eligible relatives for cascade screening, with 102 relatives eventually undergoing genetic testing. Among the 87 index cases with genetic FH, 44 were randomly assigned to the web-based platform screening, and 43 were assigned to the local procedure screening. The 6-month participation rate of relatives was 71 of the 218 eligible relatives (29% [95% CI 21–38]) for the web-based platform screening, and 31 of the 183 eligible relatives (14% [95% CI 8–23]) for the local procedure screening (odds ratio (OR) 2.46 [95% CI 1.22–4.98]), p=0.012) (Figure). Similarly, the yield of detection of positive relatives was higher for the web-based platform screening, (16% [95% CI 11–23]) compared to the local procedure screening (7% [95% CI 4–13]), with OR of 2.43 [95% CI 1.11–5.30], p=0.026. Among the 55 positive relatives identified with genetic FH within 6-months, 13.0% were younger than 18 years, 25.5% were current smokers, and 56.0% were not using any lipid-lowering drugs. Conclusions The effectiveness of cascade genetic screening for FH was approximately doubled by integrating a web-based platform that facilitates family communication and access to specialized clinical centers. Modern communication technology is well suited to be integrated in large-scale indirect genetic screening programs to increase the early identification of patients at high cardiovascular risk.

Impact of Artificial Intelligence on Accuracy and Reading Time in Breast Mammogram Interpretation

Abstract Background Breast cancer is the second leading cause of death from cancer in women Bray, but early detection and treatment can considerably improve outcomes. As a consequence, many developed nations have implemented large-scale mammography screening programmes. Aim of the Work to evaluate the impact of artificial intelligence on reading time and accuracy in breast mammogram interpretation. Patients and Methods This study is carried as retrospective comparative study conducted at the radiology department, Ain Shams University Hospitals, the main source of data for this study were the patients referred to the radiology department at Ain Shams university hospitals for mammography from august 2022 to October 2023. Results the most experienced radiologist had the highest accuracy, sensitivity and specificity (97.5%, 95% and 100% respectively). The next 2 radiologists had comparatively lower overall accuracy (92.5% and 92.5% for radiologist 2 and 3), with the more experienced of them showing higher specificity and lower sensitivity figures than the less experienced (100% Versus 95% for specificity and 85% Versus 90% for sensitivity). On the other hand, the AI was inferior to the most experienced radiologist for sensitivity and overall accuracy figures and showed equal specificity whereas it showed non inferior figures to the next 2 radiologists demonstrating relatively higher sensitivity and overall accuracy figures compared to both radiologists. Conclusion We found that the AI accuracy has been proven to be comparable to the radiologist 1 (highest years of experience) with equal specificity and lower sensitivity, and not inferior and even higher than radiologist 2 and 3 (medium and low years of experience). The reading time of the AI software was much less than the three radiologists. The highest agreement of the AI software was with the radiologist 1 (the most experienced).

Extended flexible sigmoidoscopy using water exchange facilitates a complete colon examination without sedation in participants undergoing average risk colorectal cancer screening: results from a randomized trial.

Lay Summary Colon cancer is a leading cause of cancer deaths. Leading guidelines recommend flexible sigmoidoscopy (FS) every 10 years as a screening option for average-risk people. One area of progress involves a method called water exchange (WE). This is useful for cancer screening. We performed a randomized controlled trial on 90 average-risk individuals aged 50-74. They were tested with 2 methods: unsedated extended FS using either WE or the standard method of gas insufflation (GAS). Both methods showed similar success in examining the whole colon. More participants were satisfied with WE than GAS. Both groups felt little pain. Our study shows that modern methods, especially using WE, are effective and safe. They may remove the need for sedation, making it easier to include in large-scale screening programs.

Supervised Machine Learning-Based Models for Predicting Raised Blood Sugar.

Raised blood sugar (hyperglycemia) is considered a strong indicator of prediabetes or diabetes mellitus. Diabetes mellitus is one of the most common non-communicable diseases (NCDs) affecting the adult population. Recently, the prevalence of diabetes has been increasing at a faster rate, especially in developing countries. The primary concern associated with diabetes is the potential for serious health complications to occur if it is not diagnosed early. Therefore, timely detection and screening of diabetes is considered a crucial factor in treating and controlling the disease. Population screening for raised blood sugar aims to identify individuals at risk before symptoms appear, enabling timely intervention and potentially improved health outcomes. However, implementing large-scale screening programs can be expensive, requiring testing, follow-up, and management resources, potentially straining healthcare systems. Given the above facts, this paper presents supervised machine-learning models to detect and predict raised blood sugar. The proposed raised blood sugar models utilize diabetes-related risk factors including age, body mass index (BMI), eating habits, physical activity, prevalence of other diseases, and fasting blood sugar obtained from the dataset of the STEPwise approach to NCD risk factor study collected from adults in the Palestinian community. The diabetes risk factor obtained from the STEPS dataset was used as input for building the prediction model that was trained using various types of supervised learning classification algorithms including random forest, decision tree, Adaboost, XGBoost, bagging decision trees, and multi-layer perceptron (MLP). Based on the experimental results, the raised blood sugar models demonstrated optimal performance when implemented with a random forest classifier, yielding an accuracy of 98.4%. Followed by the bagging decision trees, XGBoost, MLP, AdaBoost, and decision tree with an accuracy of 97.4%, 96.4%, 96.3%, 95.2%, and 94.8%, respectively.

Performance Evaluation of Determine HBsAg 2 Rapid Card Test for the Detection of Hepatitis B Surface Antigen in Clinical Samples.

Hepatitis B virus is one of the leading underlying causes of chronic liver disease. Rapid diagnostic tests with improved sensitivity and specificity for detecting hepatitis B infection could aid in large-scale community screening in resource-limited settings. This study was designed to assess the clinical performance of a rapid card test to detect HBsAg. In this study, archived once-thawed serum samples were tested on the Determine HBsAg 2 card and their performance was evaluated in reference to a chemiluminescence-based assay (HBsAg qualitative assay, Abbott Diagnostics, US). A total of 120 patient samples (46 confirmed HBsAg-positive and 74 confirmed HBsAg-negative) were used in this study. The overall median age of the study population was 44 years (IQR: 36-51 years), with a male gender predominance (90%). A specificity of 100% (74/74) and sensitivity of 84.7% (39/46) was observed for the Determine HBsAg 2 assay compared with the reference assay. The samples that showed false-negative results (n = 7) by the card test had HBsAg levels below the limit-of-detection of the card assay. The Determine HBsAg 2 assay gives rapid results in 15 minutes with good sensitivity and specificity. This makes it a good, affordable tool for large-scale screening and public health surveillance programs. Accurate and cost-effective rapid card tests for early detection of Hepatitis B infection would enable quick isolation of infected cases, thus reducing transmission in the community. Samal J, Soni A, Pandey A, et al. Performance Evaluation of Determine HBsAg 2 Rapid Card Test for the Detection of Hepatitis B Surface Antigen in Clinical Samples. Euroasian J Hepato-Gastroenterol 2024;14(1):9-11.

Automatic assessment of bowel preparation by an artificial intelligence model and its clinical applicability.

Reliable bowel preparation assessment is important in colonoscopy. However, current scoring systems are limited by laborious and time-consuming tasks and interobserver variability. We aimed to develop an artificial intelligence (AI) model to assess bowel cleanliness and evaluate its clinical applicability. A still image-driven AI model to assess the Boston Bowel Preparation Scale (BBPS) was developed and validated using 2361 colonoscopy images. For evaluating real-world applicability, the model was validated using 113 10-s colonoscopy video clips and 30 full colonoscopy videos to identify "adequate (BBPS 2-3)" or "inadequate (BBPS 0-1)" preparation. The model was tested with an external dataset of 29 colonoscopy videos. The clinical applicability of the model was evaluated using 225 consecutive colonoscopies. Inter-rater variability was analyzed between the AI model and endoscopists. The AI model achieved an accuracy of 94.0% and an area under the receiver operating characteristic curve of 0.939 with the still images. Model testing with an external dataset showed an accuracy of 95.3%, an area under the receiver operating characteristic curve of 0.976, and a sensitivity of 100% for the detection of inadequate preparations. The clinical applicability study showed an overall agreement rate of 85.3% between endoscopists and the AI model, with Fleiss' kappa of 0.686. The agreement rate was lower for the right colon compared with the transverse and left colon, with Fleiss' kappa of 0.563, 0.575, and 0.789, respectively. The AI model demonstrated accurate bowel preparation assessment and substantial agreement with endoscopists. Further refinement of the AI model is warranted for effective monitoring of qualified colonoscopy in large-scale screening programs.

Optical Coherence Tomography Versus Optic Disc Photo Assessment in Glaucoma Screening.

Optical coherence tomography (OCT) and optic disc photography present valuable but distinct capabilities for glaucoma screening. This review article examines the strengths and limitations of OCT and optic disc photography in glaucoma screening. A comprehensive literature review was conducted, focusing on the accuracy, feasibility, cost-effectiveness, and technological advancements in OCT and optic disc photography for glaucoma screening. OCT is highly accurate and reproducible but faces limitations due to its cost and less portable nature, making widespread screening challenging. In contrast, optic disc photos are more accessible and cost-effective but are hindered by subjective interpretation and inconsistent grading reliability. A critical challenge in glaucoma screening is achieving a high PPV, particularly given the low prevalence of the disease, which can lead to a significant number of false positives. The advent of artificial intelligence (AI) and deep learning models shows potential in improving the diagnostic accuracy of optic disc photos by automating the detection of glaucomatous optic neuropathy and reducing subjectivity. However, the effectiveness of these AI models hinges on the quality of training data. Using subjective gradings as training data, will carry the limitations of human assessment into the AI system, leading to potential inaccuracies. Conversely, training AI models using objective data from OCT, such as retinal nerve fiber layer thickness, may offer a promising direction. Both OCT and optic disc photography present valuable but distinct capabilities for glaucoma screening. An approach integrating AI technology might be key in optimizing these methods for effective, large-scale screening programs.

Abstract P319: Effects of Environment and Noise on Blood Pressure Readings: The (Decibel(s)) Trial

Background: While guidelines emphasize quiet settings for blood pressure (BP) measurement, large-scale hypertension screening is often conducted in noisy, public spaces (e.g., health fairs). However, the influence of noise and environment on BP readings is unknown. Methods: We conducted a randomized crossover trial of community dwelling adults in Baltimore, MD to determine the BP effect of noise and public environment. Participants were randomly assigned to the order of triplicate BPs in 3 spaces: private quiet office (private quiet 1 [reference]); noisy public space (public loud); noisy public space + earplugs (public quiet). To account for intrinsic BP variability, all participants underwent a 4th set of BP measurements in a private quiet office (private quiet 2 ). Between each set of triplicate BPs with a WelchAllyn ProB 2000 device and appropriately sized cuff, participants walked for ≥2 minutes, rested for 5 minutes, and had arm/back/feet supported. We conducted difference in difference analysis, overall and stratified by baseline SBP (≥ vs. < 130mmHg) and age (≥ vs. <60yrs). Results: N=108, mean age 56 (SD 17) yrs (55% ≥60 years), 91% Black race, and 44% female. 45% had SBP≥130mmHg. Mean private quiet 1 and private quiet 2 BP was 129/74 and 127/74 mmHg (SBPΔ -1.6 (SD 7.1)/DBPΔ -0.2 (SD 4.0)). The average noise level in public loud was 74 db and in private quiet was 37 db. Public loud and public quiet BPs were slightly different than private quiet 1 BPs, with difference in differences minimal (Table): [Public loud: SBPΔ 0.97 mmHg (95%CI: -0.61, 2.55)/DBPΔ 1.86 mmHg (95%CI: 0.94, 2.78); Public quiet: SBPΔ 1.72mmHg (95%CI: 0.05, 3.39)/DBPΔ 1.66 mmHg (95%CI: 0.79, 2.54)]. The patterns were generally consistent across subgroups by SBP and age. Conclusion: BP readings in noisy public spaces resulted in small overestimation of BP compared to readings in a quiet private office, but the difference was minimal. Large-scale hypertension screening programs in public loud places may be an acceptable option, especially in low resource settings.

Evaluating imaging repeatability of fully self-service fundus photography within a community-based eye disease screening setting

PurposeThis study aimed to investigate the imaging repeatability of self-service fundus photography compared to traditional fundus photography performed by experienced operators.DesignProspective cross-sectional study.MethodsIn a community-based eye diseases screening site, we recruited 65 eyes (65 participants) from the resident population of Shanghai, China. All participants were devoid of cataract or any other conditions that could potentially compromise the quality of fundus imaging. Participants were categorized into fully self-service fundus photography or traditional fundus photography group. Image quantitative analysis software was used to extract clinically relevant indicators from the fundus images. Finally, a statistical analysis was performed to depict the imaging repeatability of fully self-service fundus photography.ResultsThere was no statistical difference in the absolute differences, or the extents of variation of the indicators between the two groups. The extents of variation of all the measurement indicators, with the exception of the optic cup area, were below 10% in both groups. The Bland–Altman plots and multivariate analysis results were consistent with results mentioned above.ConclusionsThe image repeatability of fully self-service fundus photography is comparable to that of traditional fundus photography performed by professionals, demonstrating promise in large-scale eye disease screening programs.

Recommended approaches for screening and early detection of lung cancer in the Middle East and Africa (MEA) region: a consensus statement.

The prevalence of lung cancer in the Middle East and Africa (MEA) region has steadily increased in recent years and is generally associated with a poor prognosis due to the late detection of most of the cases. We explored the factors leading to delayed diagnoses, as well as the challenges and gaps in the early screening, detection, and referral framework for lung cancer in the MEA. A steering committee meeting was convened in October 2022, attended by a panel of ten key external experts in the field of oncology from the Kingdom of Saudi Arabia, United Arab Emirates, South Africa, Egypt, Lebanon, Jordan, and Turkey, who critically and extensively analyzed the current unmet needs and challenges in the screening and early diagnosis of lung cancer in the region. As per the experts' opinion, lack of awareness about disease symptoms, misdiagnosis, limited screening initiatives, and late referral to specialists were the primary reasons for delayed diagnoses emphasizing the need for national-level lung cancer screening programs in the MEA region. Screening guidelines recommend low-dose computerized tomography (LDCT) for lung cancer screening in patients with a high risk of malignancy. However, high cost and lack of awareness among the public as well as healthcare providers prevented the judicious use of LDCT in the MEA region. Well-established screening and referral guidelines were available in only a few of the MEA countries and needed to be implemented in others to identify suspected cases early and provide timely intervention thus improving patient outcomes. There is a great need for large-scale screening programs, preferably integrated with tobacco-control programs and awareness programs for physicians and patients, which may facilitate higher adherence to lung cancer screening and improve survival outcomes.

Real-world effectiveness of cytology and HPV-based screening strategy in cervical cancer screening: A cross-sectional population-based study in Chengdu, China.

Cervical cancer poses a significant health challenge in developing countries, emphasizing the need for appropriate screening strategies to accelerate the elimination of this disease. This study summarized the results of a large-scale community-based cervical cancer screening program conducted in Chengdu, China, to understand the prevalence of HPV infection and cervical lesions in the population, and to compare the real-world effectiveness of two different screening methods implemented in the program. From January 2021 to December 2022, a total of 363,376 women aged 35-64 years in Chengdu received free screenings. Among these participants, 70.1% received cytology screening and 29.9% received HPV testing combined with 16/18 genotyping and cytology triage. Ultimately, 824 cases of high-grade lesions and cervical cancer were detected, with a total detection rate of cervical cancer and precancerous lesions of 226.8 per 100,000. The follow-up rate of patients with high-grade lesions and above was 98.9%, and the treatment rate was 86.6%. The overall high-risk HPV infection rate was 11.7%, with the HPV 16/18 infection rate of 1.4%. The rate of abnormal cytology results was 2.8%. The attendance rates for colposcopy and histopathology were 71.6% and 86.1%, respectively. By calculating the age-standardized rates to eliminate the different age composition between the two group, the HPV-based screening strategy had a higher rate of primary screening abnormalities (3.4% vs. 2.8%, P<0.001), higher attendance rates of colposcopy (76.5% vs. 68.9%, P<0.001) and histopathological diagnosis (94.1% vs. 78.0%, P<0.001), higher percentage of abnormal colposcopy results (76.0% vs. 44.0%, P<0.001), and higher detection rate of cervical precancerous lesions and cancer (393.1 per 100,000 vs. 156.4 per 100,000, P<0.001) compared to cytology screening. Our study indicates that the combination of HPV testing with 16/18 genotyping and cytology triage has demonstrated superior performance in cervical cancer screening compared to cytology alone in large-scale population.

DopUS-Net: Quality-Aware Robotic Ultrasound Imaging Based on Doppler Signal

Medical ultrasound (US) is widely used to evaluate and stage vascular diseases, in particular for the preliminary screening program, due to the advantage of being radiation-free. However, automatic segmentation of small tubular structures (e.g., the ulnar artery) from cross-sectional US images is still challenging. To address this challenge, this paper proposes the DopUS-Net and a vessel re-identification module that leverage the Doppler effect to enhance the final segmentation result. Firstly, the DopUS-Net combines the Doppler images with B-mode images to increase the segmentation accuracy and robustness of small blood vessels. It incorporates two encoders to exploit the maximum potential of the Doppler signal and recurrent neural network modules to preserve sequential information. Input to the first encoder is a two-channel duplex image representing the combination of the grey-scale Doppler and B-mode images to ensure anatomical spatial correctness. The second encoder operates on the pure Doppler images to provide a region proposal. Secondly, benefiting from the Doppler signal, this work first introduces an online artery re-identification module to qualitatively evaluate the real-time segmentation results and automatically optimize the probe pose for enhanced Doppler images. This quality-aware module enables the closed-loop control of robotic screening to further improve the confidence and robustness of image segmentation. The experimental results demonstrate that the proposed approach with the re-identification process can significantly improve the accuracy and robustness of the segmentation results (Dice score: from <inline-formula xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink"> <tex-math notation="LaTeX">$0.54$</tex-math> </inline-formula> to <inline-formula xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink"> <tex-math notation="LaTeX">$0.86$</tex-math> </inline-formula> ; intersection over union: from <inline-formula xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink"> <tex-math notation="LaTeX">$0.47$</tex-math> </inline-formula> to <inline-formula xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink"> <tex-math notation="LaTeX">$0.78$</tex-math> </inline-formula> ). <italic xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">Note to Practitioners</i> —The Doppler signal is important for the diagnosis of vascular disease, e.g., peripheral arterial disease, in clinical practices, nevertheless it is not of similar significance for state-of-the-art robotic ultrasound (US) examination systems yet. This paper explores various neural network structures to effectively extract the blood vessels from US images by incorporating the Doppler signal into the segmentation process. The final DopUS structure with two encoders extracting differentiated information from two different inputs and fusing the latent feature representations in the bottleneck layer can also inspire other tasks like multi-senor fusion. In addition, this work developed a Doppler-based tracker to assess the quality of the segmentation results in real-time. The assessment is subsequently used for a quality-aware module that enables closed-loop control of the robotic screening. Preliminary physical experiments suggest that the quality-aware robotic screening system can improve the confidence and robustness of autonomous US examination results. In the future, the Doppler signal could also be used to support clinical diagnosis. We believe the proposed quality-aware autonomous screening system is important for the development of large-scale robotic US screening programs. It will not only benefit the examination of limb arteries but also other vascular structures, e.g., carotid or aorta.

A research investigation into the micronuclei assay within urothelial cells as an innovative biomarker for the carcinogenesis of cervical cancer conducted at a tertiary care facility

Abstract Background: Cervical carcinoma ranks as the fourth most prevalent cancer in women worldwide, following breast, colorectal, and lung cancers. Screening is a crucial secondary prevention strategy, particularly in developing nations such as India, ensuring effective prevention and treatment. This study investigates the micronuclei assay in urothelial cells as a potential biomarker for cervical carcinoma screening, focusing on its correlation with colposcopic and histopathological observations. Materials and Methods: The prospective study was conducted from September 2016 to September 2017 at the Department of Pathology, Institute of Obstetrics and Gynecology, Madras Medical College, Chennai, Tamil Nadu, India. It involved 108 women who visited the colposcopic clinic. Urine samples were collected from 50 women with normal colposcopic findings and 58 with abnormal colposcopy results. Micronuclei scoring was performed on 1000 epithelial cells from the smears. Additionally, cervical biopsies were conducted for the 58 cases with abnormal colposcopic findings, and the resulting histopathological data were juxtaposed with the findings of the micronuclei assay. Results: The study’s findings demonstrated a sensitivity of 82.76% and a specificity of 90%, with positive predictive values of 90.75% and negative predictive values of 81.82%. Additionally, a statistically significant linear correlation was observed between the micronuclei assay and histopathological diagnosis, with a P value of less than 0.001. Conclusion: Therefore, the micronuclei assay offers a means to detect genotoxicity, monitor cervical carcinogenesis, and identify high-risk groups using simple, reliable, and cost-effective techniques suitable for large-scale screening programs.

A high-throughput, straightforward procedure for biomonitoring organomercury species in human hair

Mercury is a pervasive and concerning pollutant due to its toxicity, mobility, and tendency to biomagnify in aquatic and terrestrial ecosystems. Speciation analysis is crucial to assess exposure and risks associated with mercury, as different mercury species exhibit varying properties and toxicities. This study aimed at developing a selective detection method for organic mercury species in a non-invasive biomonitoring matrix like human hair. The method is based on frontal chromatography (FC) in combination with inductively coupled plasma mass spectrometry (ICP-MS), using a low pressure, homemade, anion exchange column inserted in a standard ICP-MS introduction system, without requiring high-performance liquid chromatography (HPLC) hyphenation. In addition to the extreme simplification and cost reduction of the chromatographic equipment, the proposed protocol involves a fast, streamlined and fully integrated sample preparation process (in contrast to existing methods): the optimized procedure features a 15-min ultrasonic assisted extraction procedure and 5 min analysis time. Consequently, up to 100 samples could be analyzed daily, making the method highly productive and suitable for large-scale screening programs in public and environmental health. Moreover, the optimized procedure enables a limit of detection (LOD) of 5.5 μg/kg for a 10 mg hair microsample. All these features undeniably demonstrate a significant advancement in routine biomonitoring practices. To provide additional evidence, the method was applied to forty-nine human hair samples from individuals with varying dietary habits successfully finding a clear correlation between methylmercury levels (ranging from 0.02 to 3.2 mg/kg) in hair and fish consumption, in line with previous literature data.

Abstract C024: Room temperature stabilization of fecal samples supports important microbiome insights to expand access

Abstract Analysis of microbial signatures associated with colorectal cancer has potential to improve access and adherence to cancer screening programs through non-invasive sampling, particularly in underserved communities. Lack of reproducibility between studies remains a challenge and has limited the ability to translate research findings into scalable clinical applications. The common practice of storing samples at -80°C/-112°F is inconvenient, often not feasible, and may introduce bias if samples are not handled carefully and consistently. Large-scale screening programs would benefit from room temperature stabilization and sample homogenization at the point of collection, without the logistical considerations for rapid and long-term freezing. To evaluate the potential of room temperature stability, fecal samples from adult and pediatric individuals were self-collected at home using the OMNIgene™•GUT Dx device with corresponding unstabilized samples stored at -80°C/-112°F. Metagenomics sequencing was utilized to generate microbiome profiles and identify taxa-associated biomarkers relevant to gastrointestinal health and aging. Stabilized samples were compared to freshly collected unstabilized samples (n=18) to evaluate any bias introduced by the stabilizing solution. The same stabilized samples were compared to unstabilized samples stored at -80°C/-112°F to evaluate stability over time. In addition, reproducibility was evaluated by performing DNA extractions in triplicate from ten stabilized fecal samples. Finally, the ability of the room temperature stabilization to capture expected differences between groups was evaluated by comparing adult and pediatric (n=30 per group) samples and looking for known signatures specific to each group. This research demonstrated equivalent stability over time between stabilized samples at room temperature and unstabilized samples stored at -80°C/-112°F, showing preservation of both highly abundant and rare members of the microbial community. Findings indicate that room temperature stabilization does not introduce bias relative to freshly collected unstabilized samples and produces sufficient sample homogenization to yield reproducible microbial profiles. The comparison between adult and pediatric stabilized fecal samples highlights an enrichment for pediatric-specific signatures, such as Bifidobacterium and Veillonella species, and further captures the lower diversity of pediatric samples relative to more developed adult microbiota. These results demonstrate that the OMNIgene™•GUT Dx device enables the preservation of microbial community structure with room temperature stabilization and sample homogenization for use in the detection of biomarkers in fecal samples. Simple logistics of room temperature storage, combined with an easy-to-use self-collection design and compatibility with standard postal shipping assist integration into clinical workflows and enable at-home collections from diverse populations, especially at-risk, minority populations without easy access to clinical services. Citation Format: Savannah Colameco, Jean M. Macklaim, Ashlee Brown, Tara Crawford Parks. Room temperature stabilization of fecal samples supports important microbiome insights to expand access [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr C024.

Seven year follow up of subclinical rheumatic disease using WHF criteria

Abstract Background The prevalence of rheumatic heart disease (RHD) is higher using echocardiographic screening compared with clinical examination. It is proven that clinical screening underestimates the prevalence, but it still remains the cornerstone for the purpose of intervention. Echocardiography can identify subclinical RHD and can be used for subclinical cases and to see progression /regression on follow up. Follow-up data of children with subclinical lesions are very much needed before implementing large scale screening programs in endemic regions. We are submitting the 7 year follow up data for subclinical RHD who were on RF prophylaxis. Method A total of 3000 school going children were screened echocardiographically during November 2015 to December 2018 for subclinical rheumatic heart disease using WHF criteria. Subjects with subclinical rheumatic heart disease were given prophylaxis for rheumatic fever in form of injection Benzathine penicillin or oral penicillin or tablet erythromycin depending upon tolerance and acceptance. These cases were followed up at 2-year and 7-year for echocardiographic evaluation and compliance to the prophylaxis. Results Out of 3000 cases screened, 114 were found to be having subclinical rheumatic heart disease. 39 subjects turned up for 2-year follow up and 13 subjects turned up for 7-year follow up(Table 1). All 13 were on rheumatic fever prophylaxis. 23% ( 3 out of 13) turned to be with normal echocardiography findings using WHF 2012 criteria. Limitation: Children who were not taking prophylaxis were not evaluated echocardiographically, therefore comparison could not be done. Conclusion Our study shows screening of school going children by echocardiography can detect subclinical rheumatic heart disease and rheumatic fever prophylaxis in such cases can results in reversion of the lesion and prevention of progression of RHD.

Sociohumanitarian issues of preconception genetic screening programs

Preconception genetic testing for carriage of recessive mutations is an important genetic test that allows for better planning of the method of conception (natural or IVF), the course of pregnancy, and the need for additional screening of the developing fetus. Despite the obvious benefits that ECS brings to public health, uncertainty about issues and concepts such as determining disease severity, the social consequences of routine screening, and target setting create ethical controversies in defining conditions appropriate for inclusion in a screening panel. The development of a large-scale screening program exacerbates uncertainties and requires methodological elaboration. The author identifies and reviews problem areas of pre-conceptual genetic carrier testing not from the side of ethical implications, specific (or perceived) cases, but looks for their source in the underdevelopment of basic concepts and intuitions in assessing the severity of genetic disease. Analytical and empirical tools in this situation appear to be insufficient. The author concludes that a satisfactory consensus can be reached only with the participation of socio-humanitarian scientists in its development, including epistemological, existential, sociological and other humanitarian dimensions in the analysis. Sociohumanitarian expertise is a necessary element for finding a systematic solution for pre-conceptual genetic screening programs.

A Retinal Oct-Angiography and Cardiovascular STAtus (RASTA) Dataset of Swept-Source Microvascular Imaging for Cardiovascular Risk Assessment

In the context of exponential demographic growth, the imbalance between human resources and public health problems impels us to envision other solutions to the difficulties faced in the diagnosis, prevention, and large-scale management of the most common diseases. Cardiovascular diseases represent the leading cause of morbidity and mortality worldwide. A large-scale screening program would make it possible to promptly identify patients with high cardiovascular risk in order to manage them adequately. Optical coherence tomography angiography (OCT-A), as a window into the state of the cardiovascular system, is a rapid, reliable, and reproducible imaging examination that enables the prompt identification of at-risk patients through the use of automated classification models. One challenge that limits the development of computer-aided diagnostic programs is the small number of open-source OCT-A acquisitions available. To facilitate the development of such models, we have assembled a set of images of the retinal microvascular system from 499 patients. It consists of 814 angiocubes as well as 2005 en face images. Angiocubes were captured with a swept-source OCT-A device of patients with varying overall cardiovascular risk. To the best of our knowledge, our dataset, Retinal oct-Angiography and cardiovascular STAtus (RASTA), is the only publicly available dataset comprising such a variety of images from healthy and at-risk patients. This dataset will enable the development of generalizable models for screening cardiovascular diseases from OCT-A retinal images.

Colonoscopy compliance and diagnostic yield in a large population-based colorectal cancer screening programme

ObjectivesWith the intention of providing a reference for secondary prevention, our study provides some insight on diagnostic yield of factors influencing compliance with colonoscopy and the presence of advanced adenomas (AA).MethodsWe conducted large-scale CRC screening among local Tianjin residents aged 40–75 years between 2012 and 2019. A high-risk factor questionnaire (HRFQ) was distributed to each participant, followed by the performance of a fecal immunochemical test (FIT). Participants who tested positively for any of these items were advised to undergo a colonoscopy. Relevant basic information was collected from participants during CRC screening, and the screening data were sorted and analysed.ResultsA total of 5,670,924 people participated in CRC screening by the end of 2019, including 275,708 people in the high-risk group, and 74,685 (27.1%) people who underwent colonoscopy. The results of the logistic regression model demonstrated that participants with a history of mucous bloody stool (OR = 8.20, 95% CI: 7.92, 8.50, p < 0.001), chronic diarrhea (OR = 5.73, 95% CI: 5.57, 5.89, p < 0.001), and higher level of education (OR = 1.87, 95% CI: 1.80, 1.93, p < 0.001) were more likely to comply with a colonoscopy. Several factors including age (70–75 years old:OR = 3.72, 95% CI: 2.71, 5.10, p < 0.001), and FIT( +) (OR = 1.65, 95% CI: 1.42,1.90, p < 0.001) were identified to be associated with the presence of AA.ConclusionsIncreased compliance with colonoscopy is urgently needed. Our findings can inform the design of future effective large-scale population-based CRC screening programmes.