Use Of Screening Research Articles

Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis

Abstract Purpose While early diagnosis is crucial, as new treatments can significantly slow the progression of the disease, there is growing evidence on the application of novel imaging techniques for detecting transthyretin amyloidosis (ATTR) in pre-symptomatic stages. This study aimed to evaluate the utility of pre-symptomatic scintigraphic imaging cascade screening for early detection of ATTR. Methods During the period from 2020 to 2024, we conducted a prospective study that enrolled 100 consecutive adults. The study utilized a multimodal cascade screening approach to assess asymptomatic relatives of individuals with ATTR (ClinicalTrials.gov Identifier: NCT05814380). The analysis incorporated clinical data, genetic testing, echocardiography, scintigraphy and single-photon emission computed tomography/computed tomography (SPECT/CT) with [99mTc]Tc-DPD, regardless of the predicted age of disease onset. Results Overall, scintigraphy identified cardiac amyloidosis (CA) in 8.2% of relatives, while 20.5% carried a pathogenic transthyretin variant without radiotracer uptake, with Phe53Leu being predominant. Notably, no relatives of wild-type ATTR patients exhibited CA on scintigraphy or carried a transthyretin variant. Additionally, newly-diagnosed relatives with ATTR CA presented elevated high-sensitivity troponin levels and exhibited a higher incidence of pathological electrocardiographic Q waves, greater thickness of the intraventricular septum and left ventricular posterior wall, a notable decline in lateral wall and intraventricular septal E' tissue velocities measured by TDI, and the "5–5-5" sign (p < 0.05). Conclusion The presented findings demonstrate that implementing a systematic screening protocol, which integrates genetic and scintigraphic testing, facilitates the early detection of ATTR. Crucially, a significant proportion of asymptomatic relatives of patients with hereditary ATTR may suffer from underlying CA. Registration ClinicalTrials.gov Identifier: NCT05814380.

Utilization of cervical cancer screening services among women aged 18 to 59 years in Laikipia East Sub-County, Kenya

INTRODUCTION Cervical cancer, a preventable disease, continues to be the leading cause of death resulting from cancers in Kenya. Despite free cervical cancer screening services in all government hospitals in Laikipia County, the screening uptake remains low at 19% compared to the WHO target of 70%. Hence, understanding the barriers and facilitators is important in informing targeted interventions. MATERIALS AND METHODS A mixed-method cross-sectional study was done in Laikipia East Sub-County, Kenya, between July and August 2022. The participants were women aged between 18 to 59 years. Data was collected on demographic factors and cervical cancer screening utilization. Also, qualitative data was collected using 5 FGDs and 6 KIIs to get more insights. Chi-square tests and odds ratios were calculated using STATA version 15 to assess associations and determine the level of significance. RESULTS Out of the 272 participants, 32.4% (n=88) had ever screened for cervical cancer. The logistic regression analysis indicates that as women age, their likelihood of undergoing screening increases, particularly for those aged 50-59, who show a tenfold higher likelihood of screening [ OR 10.40 (3.20-33.82), p-value <0.001]. Conversely, unemployment is associated with a reduced likelihood of screening [OR 0.42 (0.18-0.99), p-value 0.047] while individuals earning 50-200 USD per month exhibit an increased likelihood [OR 2.25 (1.30-3.87) p-value 0.004]. However, religion, marital status, and education level factors do not show a significant association with the utilization of cervical cancer screening as indicated by p-values of 0.735, 0.069, and 0.765, respectively. CONCLUSION AND RECOMMENDATIONS Laikipia county government offers free cervical cancer screening in all government-run facilities but many, especially those aged 25-49, lack awareness. It is vital to boost awareness through community education on cervical cancer causes and prevention, emphasizing screening as preventive. Affordable treatment is also crucial for community reassurance post-diagnosis.

The association between health literacy and colorectal cancer screening uptake in Taiwan

Abstract Background Population-based cancer screening programs have been confirmed as a cost-effective strategy for early detection of colorectal cancer, leading to reduced mortality and morbidity. In Taiwan, the government has provided an immunochemical fecal occult blood test (iFOBT) every two years to all citizens aged 50 to 74 years since 2013. The study aims to determine the association between iFOBT uptake and health literacy (HL). Methods Data from the National Health Interview Survey (NHIS), a population-based cross-sectional survey conducted in 2021-22 in Taiwan, were applied. The European Health Literacy Survey Short Form (HLS-EU-Q16), self-reported iFOBT participation within the past 2 years, and covariates assessed by face-to-face interview. The present analysis included those age-eligible for screening (n = 3,871) and applied the survey-weighted multivariable logistic regression to estimate odds of iFOBT uptake between HL skill levels, controlling for age, education attainment, socioeconomic status, health status, and household urbanicity level. Results In general, 44.6% of participants had utilized the iFOBT, and 79.9% had adequate HL skills which reported higher iFOBT uptake rates (45.9%) than their counterparts (39.4%). Multivariable analysis showed that having adequate HL was associated with greater odds of iFOBT utilization (adjusted odds ratio [aOR] = 1.79; 95% CI: 1.29-2.49). Additionally, compared to those households registered in the township, participants in higher urbanicity levels had lower iFOBT uptake: city (aOR = 0.62; 95% CI: 0.47-0.82). Other predictors that contributed significantly were participants’ gender and having 2 or more chronic diseases. Conclusions Inadequate HL skills and urban residency may reduce participation in the CRC screening program, despite its free availability. More efforts should include literacy-friendly designed materials and the provision of tailored support in urban settings. Key messages • HL skills are significantly associated with the CRC screening uptake in Taiwan. Improving HL could have positive effects on people’s participation. • Urbanicity levels are also predictors associated with screening utilization. Disseminating health service information in localized ways should be a potential option.

Utility of mobile phone app-assisted screening for heart failure and heart stress in primary care

Abstract Background As heart failure (HF) still has a similar prognosis to some of the most common cancers, a timely diagnosis of HF is of paramount importance. We sought to determine whether a mobile phone app can facilitate screening for HF in primary care. Material and methods The national echocardiographic society conducted a multicenter screening programme for HF in which general practitioners from 13 primary care centres used a mobile phone app to decide whether patients without a prior HF diagnosis should be referred to one of the 6 university hospitals for transthoracic echocardiography (TTE) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) testing. The app would recommend further testing (TTE and NT-proBNP) to patients with symptoms potentially associated with HF, atrial fibrillation, pathologic electrocardiogram (ECG), previous myocardial infarction or exposure to cardiotoxic cancer therapies, or at least two other risk factors listed in Figure (left panel). Patients with signs of HF were not eligible for the programme. The algorithms proposed in the 2021 ESC guidelines were used to diagnose HF across the entire spectrum of left ventricular ejection fraction (EF). Results Of the 930 screened outpatients (mean age 66±11 years, age range 21-91 years, 61% female), 318 symptomatic patients (34.2%) were diagnosed with new HF (Figure). HF with preserved (HFpEF) was diagnosed more frequently than HF with mildy reduced (HFmrEF) and reduced EF (HFrEF). Heart stress, defined as elevated plasma NT-proBNP in asymptomatic individuals with risk factors irrespective of the presence or absence of structural heart disease or cardiac dysfunction, was found in 22.3% (Figure, right panel). In multivariate regression analysis, advanced age, atrial fibrillation, pathological ECG, long-standing history of arterial hypertension and chronic kidney disease were independently associated with HF, while other risk factors were not (Figure, middle panel). Conclusions Screening in primary care based on symptoms and risk factors, facilitated by a mobile phone app, resulted in a new HF diagnosis in approximately one third of screened patients, with the majority of them having HFpEF. Recalibration of the referral criteria might further improve the performance of the app for screening purposes.

Clinical recommendations for polygenic risk score-enhanced breast cancer screening: Can.Heal project

Abstract Background The application of polygenic risk score (PRS) in breast cancer (BC) screening presents promising opportunities. Developing recommendations for future use and research on this topic is a key focus of the EU4Health project: Building the EU cancer and public health genomics platform (Can.Heal). We aim to provide these recommendations based on the analysis of available evidence through a transparent and rigorous development process. Methods The recommendations adopt the GRADE evidence to decision methodology, leveraging an evidence review team and a multidisciplinary panel of nine experts. A systematic review is being conducted to evaluate the evidence for PRS in BC screening, in the domains of benefits and harms, acceptability, feasibility, equity and cost-effectiveness. Results Regarding benefits and harms of adding PRS to BC standard screening, we identified 63 relevant articles. Forty-five (71%) discussed benefits, while 14 (22%) addressed harms. Forty-two (67%) were observational studies, 18 (28%) modeling studies and 1 non-randomised control trial (2%) that examined the diagnostic accuracy of PRS-enhanced screening for relative BC risk prediction using measures such as net reclassification index and area under the curve. Lastly, two modeling studies (3%) assessed the clinical utility of PRS-enhanced screening in terms of life years gained, BC deaths averted. The other domains are under examination. The panel convened to redefine the research question and outcomes of interest and will reconvene to assess the certainty of evidence collected, and subsequently to draft recommendations. Conclusions The integration of PRS into BC screening shows potential benefits in improving risk prediction. Ongoing trials, such as Wisdom and MyPEBS, are studying the clinical utility of integrating PRS in BC screening. The approach taken by the Can.Heal aims to ensure that the recommendations are based on a thorough and balanced evaluation of the available evidence. Key messages • The Can.Heal project aims to formulate policy and research recommendations for breast cancer screening using PRS through a thorough evidence review. • Upcoming PRS recommendations rely on expert opinion and modeling studies.

The effectiveness and barrier of reverse cascade screening for paediatric familial hypercholesterolaemia

Abstract Background Familial Hypercholesterolaemia (FH) is an autosomal dominant genetic disorder that is prevalent in one out of every 300 individuals in the general population. Recognized as an actionable condition, early diagnosis of FH in children is crucial to prevent the onset of atherosclerosis, and equally important is the identification of parents before the development of coronary artery disease events. Therefore, the significance of universal FH screening during childhood combined with reverse cascade screening has been increasingly acknowledged. To achieve these objectives, in our region, universal lipid screening is conducted in elementary schools for children aged 9 or 10 years, annually screening approximately 8,000 individuals, with those identified being referred through a three-step process to four major healthcare facilities within the prefecture. However, the effectiveness of reverse-cascade screening remains unclear. Purpose Our study aimed to assess the effectiveness of and identify barriers to implementing reverse cascade screening in conjunction with universal lipid screening. Methods We conducted a single-center, retrospective observational study from January 2018 to July 2023 and evaluated the utility of reverse cascade screening for children genetically diagnosed with FH following universal screening. This study analysed prevalent barriers and identified families with suspected FH through reverse cascade screening, counting those with Potential FH among second-degree relatives. Beyond successful identification, we categorized the frequently encountered barriers into five distinct categories: bereavement, prior cardiovascular events, dyslipidaemia with unspecified LDL-C levels, incomplete family history information, and inadequate disease awareness of FH. Reverse FH diagnosis adhered to current guidelines. Results and Discussion Of 151 paediatric patients referred to our facility, 67 were genotypically confirmed to have FH. Excluding 8 cases of divorce and 4 cases of tracking challenges, 55 patients were finally analysed. 62 patients were diagnosed with reverse FH, and appropriate treatment was initiated. Notably, 158 cases of Potential FH were identified. (25 first-degree and 133 second-degree relatives). While a higher number of reverse FH diagnoses were observed in first-degree relatives (55 cases), the diagnostic yield was lower among second-degree relatives (seven cases). Common barriers for second-degree relatives included dyslipidaemia with unspecified LDL-C levels (42 cases) and incomplete family history information (66 cases). Conclusion Integrating universal screening with reverse cascade screening facilitates the identification of new FH cases. A comprehensive strategy for diagnosing reverse FH is paramount, raising disease awareness, genetic testing, the development of a family-based care plan, and enhancing access to information and communication technologies.

Minimal extra-cardiac atherosclerosis in people <50 years with sudden cardiac death due to coronary disease

Abstract Background The association between severe coronary artery disease and widespread atherosclerosis in younger individuals remains uncertain. Purpose To characterise the association between severe (fatal) coronary disease and extra-cardiac atherosclerosis in a population of young and middle-aged individuals. Methods Individuals aged 1-50 years with sudden cardiac death (SCD) from 2019-23, autopsy-proven to be due to coronary artery disease, were identified using the state-wide EndUCD registry. The presence of extra-coronary atherosclerosis greater than modified American Heart Association class III was documented in five arterial beds (intra-cerebral vessels, carotid arteries, aorta, renal and femoral arteries). Results Of 3,044 individuals who experienced SCD, 372 were due to coronary artery disease and 71 of these (19.1%) had extra-coronary plaque. Plaque was identified in aorta (68/372 patients, 18.3%), carotid arteries (11/372, 3.0%), iliofemoral arteries (11/372, 3.0%), intracerebral arteries (4/157 patients who underwent examination of the brain, 2.6%) and renal arteries (7/372 patients, 1.9%). 51 patients (13.7%) had plaque in ≥2 arterial beds in addition to their coronary disease. Predictors of extra-coronary plaque were older age (median 47.7 vs 44.4 years, p<0.0001), hypertension (32.3% vs 18.9%, p=0.013), and previous percutaneous coronary intervention (9.9% vs 3.0%, p=0.01). Patients with extra-coronary plaque had higher rates of cardiomegaly (68.8% vs 51.1%, p=0.01), cardiac fibrosis indicative of previous myocardial infarction (49.3% vs 31.9%, p=0.006) and multi-vessel coronary disease (73.5% vs 55.6%, p=0.007). Conclusion Only 1 in 5 people aged 1-50 years experiencing SCD from a coronary cause exhibit extra-coronary plaque. This limits the utility of screening for carotid or aortic plaque to predict coronary atherosclerosis. Individuals with extra-coronary plaque had a higher burden of cardiovascular risk factors and more established coronary disease.

Potential use of pharmacogenetics in cardiology: genome-wide association studies of amiodarone-induced thyroid disorders

Abstract Background Amiodarone is a commonly prescribed antiarrhythmic drug used to manage supraventricular and ventricular arrhythmias. The use of amiodarone is associated with a broad range of adverse effects, including amiodarone-induced hypothyroidism (AIH) or amiodarone-induced thyrotoxicosis (AIT) (1). Both conditions are linked with increased mortality and have no known reliable risk predictors (2). Purpose We investigated the genetic underpinnings of amiodarone-induced thyroid disorders, and the clinical validity and utility of screening for genetic variants. Methods We conducted the first genome-wide association studies (GWAS) of AIH and AIT using data from three large biobanks. We compared the AUCs for SNPs identified through the above GWAS with polygenic risk scores for both hypo- and hyperthyroidism. Finally, we tested the clinical validity and utility of screening for risk variants. Results We found two risk loci for AIH. The lead variant at the first locus, rs1443438, was intronic to FOXE1 (OR 0.39, MAF = 35%, P = 1.59 × 10-42). The other lead variant, rs2209796, was located 93 kb upstream to FOXA2 (OR 0.56, MAF = 29%, P = 2.64 × 10-15: Figure 1). For AIT, we found one risk locus. The lead variant, rs2268803, was intronic to CAPZB (OR 1.81, MAF = 42%, P = 2.43 × 10-8: Figure 1). Next, we added GWAS SNPs or polygenic risk scores to risk prediction models consisting of age, sex and 4 principal components (PCs), and compared AUC estimates between risk models. Using GWAS SNPs, we found that the AIT variant increased the AUC with 6% (95%CI 1.1 – 10.3, AUC: 0.72) and 9% (95%CI 6.2 – 11.2, AUC: 0.75) for AIH, compared to the benchmark model. Both GWAS SNP models were superior to polygenic risk scores in terms of AUC (P for difference <0.05). The positive and negative predictive value (PPV and NPV) for the AIT-variant was 14.6% and 95.7%, respectively. For the AIH-variants combined, we found a PPV of 17% and a NPV of 95%. Conclusions Common genetic variants are associated with both amiodarone-induced hypo- and hyperthyroidism and are at this point, superior to polygenic risk scores in predicting amiodarone-induced thyroid disorders. These findings add to the potentials of pharmacogenetics in cardiology. Figure 1. Double Manhattan plot of amiodarone induced thyroid disorders. The Y-axis is the negative log10 of the P-value for each single nucleotide polymorphism. The X-axis is the chromosome, with positions on each chromosome ranging from lower to higher (left to right). The dotted line marks the threshold for genome-wide significance. Amiodoarone-induced hypothyroidism at the top, and amiodarone-induced thyrotoxicosis at the bottom.Figure 1

Mammography screening among women attending primary healthcare centers in Monastir, Tunisia

Abstract Background Breast cancer is the leading cancer among women worldwide. Early detection through mammography screening improves prognosis and enhances survival rate for this disease. The aim of this study was to identify the factors associated with mammography screening utilization among women attending primary healthcare centers. Methods A cross-sectional study was conducted in four primary healthcare centers in Monastir governorate in October 2023 using a pre-tested questionnaire. Women aged over 45 years-old were included as they were the target group in the breast cancer screening strategy. Univariate then multivariate analyses were performed in order to identify the factors associated with mammography screening utilization. Data was analyzed by SPSS 21.0. Results A total of 192 women were included in the study with a mean age of 56.7±8.8 years-old. Among them, 79.7 % (n = 153) were married and 51.6% (n = 98) had three children and less. A total of 55.3 % (n = 94) had a primary education level. Regarding participants’ practices of breast cancer screening, 35% of our participants have had mammogram. Univariate analysis showed that the knowledge about breast cancer symptoms (p = 0.015), practicing Breast self-examination (BSE) (p = 0.002), being aware about mammography (p = 0.001) and the recommended age of the screening at 45 years-old (p = 0.001) were significantly associated with adherence to breast cancer screening. Multivariate analysis revealed that practicing BSE (ORa=2.60 [95%CI: 1.22-5.55] and knowing the recommended age of mammography screening (ORa=2.28 [95%CI: 1.17-4.45] were significant (P < 0.05) predictors of mammography screening utilization. Conclusions Mammography screening rate is low. This study had provided some informations about factors influencing mammography screening. Policymakers and public health practitioners should consider the identified factors when developing intervention programs to improve breast cancer screening. Key messages • There is a need to conduct education sessions in schools to raise awareness about breast cancer screening at an early age. • Social media can be a tool for health education on mammography screening.

Barriers and facilitators for universal gestational diabetes Mellitus screening in a low resource setting: a cross-sectional study in Sri Lanka

Gestational Diabetes Mellitus (GDM) is associated with adverse maternal and perinatal outcomes and increased risk of developing diabetes in later life. Sri Lanka adopted universal GDM screening at two time points in pregnancy (before 12 weeks and between 24 and 28 weeks) in 2014 and its utilization has not been assessed. This study assessed the utilization of GDM screening services and associated factors among antenatal mothers in Southern Sri Lanka. A cross-sectional study was carried out in a consecutive sample of 420 postpartum mothers who delivered at three major hospitals in Sri Lanka. Data were collected on socio-demographics, pregnancy, availability and utilization of screening services and logistics using an interviewer-administered questionnaire and a data record sheet. Data was analysed using SPSS software. Chi-square test and binary logistic regression was used to assess the association between variables. The coverage of first and second screening tests were 91.4% and 94.5% and timeliness were 72.4% and 59.5%, respectively. The median period of amenorrhoea at the first and second screening were 10.0 (inter-quartile range: 2.5) weeks and 28.0 (inter-quartile range: 1.5) weeks. A higher utilization was associated with higher income (OR = 3.4, 95% CI: 1.1–10.5) and planned pregnancy (OR = 4.9, 95% CI: 2.2–10.7) for the first screening test. Primiparity (OR = 0.3, 95% CI: 0.1–0.9) and proximity of the nearest laboratory (OR = 3.5, 95% CI: 1.0–12.0) were positively associated with the second screening test. The timeliness of both screening tests was associated with planned pregnancy (OR = 2.1, 95% CI: 1.1-4.0 and OR = 2.3, 95% CI: 1.1–4.5) and being non-employed during the pregnancy (OR = 2.5, 95% CI: 1.4–4.3 and OR = 2.3, 95% CI: 1.3–4.1). A high utilization of GDM screening was observed. Timeliness should be ensured through improved availability and accessibility of screening facilities.

Prevalence of Cannabis Use Disorder Among Primary Care Patients with Varying Frequency of Past-Year Cannabis Use.

Valid, single-item cannabis screens for the frequency of past-year use (SIS-C) can identify patients at risk for cannabis use disorder (CUD); however, the prevalence of CUD for patients who report varying frequencies of use in the clinical setting remains unexplored. Compare clinical responses about the frequency of past-year cannabis use to typical use and CUD severity reported on a confidential survey. Among adult patients in an integrated health system who completed the SIS-C as part of routine care (3/28/2019-9/12/2019; n = 108,950), 5000 were selected for a confidential survey using stratified random sampling. Among 1688 respondents (34% response rate), 1589 who reported past-year cannabis use on the SIS-C were included. We compared patients with varying frequency of cannabis use on the SIS-C (< monthly, monthly, weekly, daily) to survey responses on the Composite International Diagnostic Interview Substance Abuse Module for CUD (any and moderate-severe CUD) and cannabis exposure measures (typical use per-week, per-day). Adjusted multinomial (categorical) and logistic regression (binary), weighted for population estimates, estimated the prevalence of outcomes across frequencies. Patients were predominantly middle-aged (mean = 43.3years [SD = 16.9]), male (51.8%), white (78.2%), non-Hispanic (94.0%), and commercially insured (68.9%). The prevalence of any and moderate-severe CUD increased with greater frequency of past-year cannabis use reported on the SIS-C (p-values < 0.001) and ranged from 12.7% (6.3-19.2%) and 0.9% (0.0-2.7%) for < monthly to 44.6% (41.4-47.7%) and 20.3% (17.8-22.9%) for daily use, respectively. Greater frequency of use on the SIS-C in the clinical setting corresponded with greater per-week and per-day use on the confidential survey. Among patients who reported past-year cannabis use as part of routine screening, the prevalence of CUD and other cannabis exposure measures increased with greater frequency of cannabis use, underscoring the utility of brief cannabis screens for identifying patients at risk for CUD.

Utility of Jaundice Surveillance and Bilirubin Screening in Identifying Neonates Who Qualify for Phototherapy ≤24 Hours after Birth

To assess the utility of jaundice surveillance and routine 24hour bilirubin screening in identifying neonates who qualify for phototherapy (PT) at≤24hours after birth. In this retrospective, single-center observational study, records of neonates ≥350/7weeks gestation born to O+, antibody negative mothers (n=6098) were screened to identify who received PT at≤24hours after birth. The hour specific TSB at which neonates qualified for PT, blood type, direct antiglobulin test (DAT), and whether treatment was triggered by jaundice detection at <24hours or the 24-hour bilirubin screen were determined. 59 neonates (1.0%) qualified for PT≤24hours after birth; 10 (17%) were identified by jaundice detection at<24hours, whereas 49 (83%) were identified on 24-hour bilirubin screening. Forty-eight of the 59 (81%) were ABO incompatible and DAT+; 11 were DAT negative, one of whom had glucose-6-phosphate dehydrogenase deficiency. Among the ≤24hour PT group, 17 had a PT qualifying TSB within 3mg/dL of exchange transfusion (ET); 14 of whom were only identified first on 24-hour bilirubin screening. Six exceeded ET thresholds, 4 of whom were identified on 24-hour bilirubin screening. Neonates who qualified for PT at ≤24hours were identified mostly by 24-hour bilirubin screening, a fraction of whom had a TSB that approached or exceeded ET thresholds. Our findings support routine birth hospitalization bilirubin screening and suggest screening no later than 24hours after birth may be beneficial.

The Development, Content Validation, and Clinical Utility of Mealtime Screening for Schools (MEALSS)

The Development, Content Validation, and Clinical Utility of Mealtime Screening for Schools (MEALSS)

Efficacy of decision aid delivery modes in prostate cancer screening: umbrella review and network meta-analysis.

To review and compare the efficacy of different delivery modes of decision aids (DAs), including computer-based, print-based, multimedia-based, video-based, and website-based on decision-making outcomes for prostate cancer screening compared to usual care (UC) and among the delivery modes. PubMed, the Excerpta Medica dataBASE (EMBASE), Cumulative Index to Nursing and Allied Health Literature (CINAHL), Google Advanced Search, and Turning Research Into Practice (TRIP) Database were systematically searched from inception to August 2023. The primary outcomes were knowledge level, knowledge scores, participation in shared decision-making (SDM), decisional conflict, and preference for SDM participation. Secondary outcomes were the proportion of subjects who underwent screening (actual screening utilisation) and the proportion of subjects who intended to be screened (intention to undergo screening). Network and pairwise meta-analyses were performed using random-effects models. Seven systematic reviews were included. Network meta-analysis found that multimedia (relative risk [RR] 1.51, 95% confidence interval [CI] 1.02-2.24), print (RR 1.82, 95% CI 1.23-2.69), and website-based (RR 1.99, 95% CI 1.32-3.01) DAs significantly increased participation in SDM compared to the computer-based DA. There was a significant reduction in the actual screening utilisation in the computer DA arm compared to the other delivery modes. No significant differences between all delivery modes were noted on knowledge levels, knowledge scores, decisional conflict, preference for SDM participation, and intention to undergo screening. The highest mean surface under the cumulative ranking curve for all primary outcomes showed that website-based was the most effective delivery mode, followed by print-based DA. The pairwise meta-analysis showed a significant increase in participants' knowledge level, knowledge scores, a reduced intention to undergo screening and actual screening utilisation compared to UC. The findings suggest that different types of DAs have varying levels of effectiveness in increasing knowledge level, knowledge scores, participation in SDM, and influencing screening behaviours. While website-based DA appeared the most effective, employing the print-based DA could be a practical solution in settings with limited resources.

9397 Shatter Proofing Bones: Revamping Osteoporosis Screening

Abstract Disclosure: R. Subramani: None. T. Gupta: None. M. Anwar: None. J. Pamula: None. Background: Osteoporosis is a common disease characterized by low bone mass, structural deterioration of bone tissue, and increased risk of fractures. The World Health Organization (WHO) has defined osteoporosis based on bone density measurements. According to their definition, osteoporosis is diagnosed when the bone density at the hip or spine is at least 2.5 standard deviations (SDs) below the mean bone density of a reference population of young, healthy women (T score ≤ -2.5). According to NHANES data from 2017-2018, the overall prevalence of osteoporosis among adults over 50 was found to be 12.6%. It was observed that the prevalence of osteoporosis was higher among women (19.6%) compared to men (4.4%). According to US Preventative Services Task Force (USPSTF), the guidelines for screening are as follows: BMD Testing (DEXA) for all women aged 65 and older, postmenopausal women younger than 65 with clinical risk factors for fracture including advancing age, previous fracture, glucocorticoid therapy, parental history of hip fracture, low body weight, current cigarette smoking, excessive alcohol consumption, rheumatoid arthritis, secondary osteoporosis. BMD Testing for Men is not recommended. The most used bone measurement test to screen for osteoporosis is central DXA which measures BMD at the hip and lumbar spine. Goal: To improve the osteoporosis screening using DXA scan in the outpatient internal medicine resident patient panel by 5% Study Design:Subjects were identified by an EPIC report and will include retrospective chart review of records from July 2022 and prospective screening until April 2024 for the outpatient IM clinic list of patients including both resident panel. Methods: Pre-intervention data analysis of current rates; Educating residents about appropriate screening; Utilization of osteoporosis screening as care-gap in EPIC ;Calling patients who are due for screening from IM residents patient panels; Post-interventional data analysis Results: The total number of patients on the residents panel was 196. Before interventions, screening rate for osteoporosis were 71.2% among residents' patients. After intervention, screening rates increased to 75.5%. There was a 4.3 % improvement in screening rate. Conclusion: Resident education, addressing Osteoporosis care gaps in EPIC and patient outreach are effective interventions to improve screening rates. Discussion: Osteoporosis screening remains an area of needed improvement in IM clinic. EPIC system should not only take age for prompting osteoporosis screening but also other factors such as family history, pre-mature fractures, steroid use, etc. Adding osteoporosis screening into the metric system are few steps to be considered for future directions. Presentation: 6/3/2024

Utilization of anal cytology screening among sexual and gender minority populations in Pennsylvania.

Despite the risk of anal cancer in sexual and gender minority populations (SGM), anal cancer screening remains infrequent and inconsistent in these populations. The objective of this analysis was to identify factors associated with anal cancer screenings among sexual and gender minority populations (SGM) using the Andersen's Behavioral Model of Health Services Use. Secondary analyses of two cross-sectional surveys from the 2020 (N=1125) and 2022 (N=630) "Pennsylvania LGBTQ Health Needs Assessment." Multiple logistic regression analyses were used to identify correlates of anal cytology screening. Average age was 37.7 (SD=13.3) and 39.7 (SD=13.6) in 2020 and 2022, respectively. Approximately 16-18% reported living with HIV. A minority of respondents reported past year screening (14.0% 2020 and 13.6% 2022). Enabling and need-based factors consistently associated with screening included STI treatment, living with HIV, PrEP use, and multiple sex partners. Robust factors associated with ever being screened were age and living with HIV. Anal cytology screening is being done in Pennsylvania at a small but not insignificant rate. In accordance with existing guidelines, SGM living with HIV were most likely to be screened, but still at a low rate. Predictive factors associated with screening in this study can inform future interventions to implement guideline-specific anal cancer prevention. Factors that reflect consistent connection to healthcare are associated with increased rates of screening via anal cytology testing, indicating there are opportunities to implement anal cancer screening as part of a larger, more comprehensive SGM-focused care pathway.

Clinical experience on the limited role of ultrasound for breast cancer screening in BRCA1 and BRCA2 mutations carriers aged 30–39 years

PurposeIn BRCA germline pathogenic sequence variants (PSV) carriers aged 30–39 years imaging is recommended at six-month intervals. The European society for medical oncology recommendation of the use of 6-monthly MRI six-monthly MRI screening is being considered at our institution, particularly for younger carriers under the age of 35, although it is not mandatory. If 6-monthly MRI is unavailable, annual MRI may be supplemented by ultrasound (with or without mammography). The aim of this study was to evaluate the utility of ultrasound screening added to mammography, as a 6-month supplement to annual MRI in BRCA PSV carriers aged 30–39 years. Materials and methodsThis IRB approved retrospective study included BRCA PSV carriers aged 30–39 years, who underwent breast cancer screening at our institution between January 2015 and March 2023. Participants were divided into two groups, those who had supplemental whole-breast US and mammography at six months and underwent screening before March 2019, and those who had only mammography without supplemental US and enrolled in screening after March 2019. Patient characteristics, cancer detection rates and cancer characteristics were compared between the two groups. ResultsOverall, 200 asymptomatic BRCA1/2 PSV carriers undergoing screening in our institution were included in the study. Mean age was 35.7 ± 3.5 years, and mean follow-up time was 37.4 ± 38.0 months. There were 118 (59 %) women screened with supplemental US, and 82 (41 %) women without. Eight cancers were diagnosed during the study period, four in women with supplemental US and four in women without. The sensitivity of whole-breast screening US was 25 % (1/4), specificity 85.7 % (222/259), PPV 2.6 % (1/38), and NPV 98.7 % (222/225). Of the four cancers detected in women screened with supplemental US, one was diagnosed by whole-breast US, two by MRI, and one by mammography. Of eight cancers included in this study, two were not detectable by targeted second-look US. All eight cancers were detectable by MRI. ConclusionThe addition of whole-breast ultrasound to mammography and MRI screening in BRCA PSV carriers aged 30–39 years offered limited incremental benefit. MRI with 6 months supplemental mammography without US detected all cancer cases.

Clinical utility of PROP1 gene screening for patients with congenital hypopituitarism

Clinical utility of PROP1 gene screening for patients with congenital hypopituitarism

A Cross-Sectional Survey on Nurses' Utilization of Risk Assessment and Screening for Postoperative Delirium in Older Patients Following Hip Fracture Surgery in Tertiary Hospitals in Jiangsu Province, China.

To analyze the current utilisation of delirium risk assessment and screening for older patients after hip fracture surgery in tertiary hospitals in Jiangsu Province, China. This cross-sectional study was conducted from April 1 to April 30, 2023 among nurses working in orthopedics from Level III hospitals in Jiangsu Province, China. Data were collected using a self-designed questionnaire that focused on the utilisation of delirium risk assessment and prevention measures for older patients after hip fracture surgery. The questionnaire was administered through the online platform Questionnaire Star. Differences between data were analyzed using chi-square and rank-sum tests. A total of 616 nurses from 48hospitals in Jiangsu province responded to the survey. Among them, 50.17% reported having no training in delirium management, 66.88% did not assess patients for delirium risk, and 73.21% did not screen patients for delirium in their clinical practice. It was observed that nurses with longer tenure, nurses specialising in orthopaedics, and nurses with ICU experience were more attentive to delirium risk assessment and delirium screening of patients (P<0.001). Medical institutions must focus on strengthening nurses' training in delirium management for older patients after hip fracture surgery, improve their ability to undertake risk assessment and risk screening, unify delirium management norms, and ultimately improve nurses' delirium management ability.

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

PurposeResearch is underway worldwide to investigate the feasibility, acceptability, and utility of sequencing-based newborn screening. Different methods have been used to select gene-condition pairs for screening, leading to highly inconsistent gene lists across studies. MethodsEarly Check developed and utilized actionability-based frameworks for evaluating gene-condition pairs for inclusion in newborn panels (panel 1-high actionability, panel 2-possible actionability). A previously developed framework, the Age-based Semi Quantitative Metric (ASQM), was adapted. Increasing ASQM scores, with a maximum of 15, suggest greater actionability. Wilcoxon tests were performed to compare panel 1 gene-condition pairs on the Recommended Uniform Screening Panel (RUSP) with non-RUSP pairs. ResultsIn our first round of assessment, Early Check identified 178 gene-condition pairs for inclusion in panel 1 and 29 for panel 2. Median ASQM scores of RUSP conditions on panel 1 was 12 (range 4 to 15) and non-RUSP was 13 (range 9 to 15). Median scores for panel 2 was 10 (range 6 to 14). ConclusionThe Early Check frameworks provide a transparent, semiquantitative, and reproducible methodology for selecting gene-condition pairs for newborn screening sequencing pilot studies that may inform future integration of genomic sequencing into population-level newborn screening. Collaborative efforts among newborn sequencing studies to establish shared criteria is needed to enhance cross-study comparisons.