{"title":"Couple screening for autosomal recessive inherited diseases: Current and historical perspectives.","authors":"Glenn E Palomaki","doi":"10.1177/09691413251335144","DOIUrl":"10.1177/09691413251335144","url":null,"abstract":"","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"59-60"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Attitudes towards being offered a choice of self-sampling or clinician sampling for cervical screening: A cross-sectional survey of women taking part in a clinical validation of HPV self-collection devices.","authors":"Laura Marlow, Hannah Drysdale, Jo Waller","doi":"10.1177/09691413241283356","DOIUrl":"10.1177/09691413241283356","url":null,"abstract":"<p><p>ObjectivesPrimary human papillomavirus (HPV) testing in cervical screening offers the opportunity for women to be given a choice between HPV self-sampling and traditional clinician screening. This study assessed attitudes towards a choice and anticipated future preference among women who had collected a vaginal self-sample alongside their usual cervical screen.SettingThirty-eight general practices across five areas in England.MethodsOverall, 2323 women (24-65 years; response rate: 48%) completed a survey after collecting a self-sample and having a clinician screen at their GP practice. We asked which test they preferred and assessed attitudes to being offered a choice. We explored age, education, ethnicity and screening experience as predictors of attitudes towards a choice and anticipated future choice.ResultsMost participants felt they would like a choice between self-sampling and clinician screening (85%) and thought this would improve screening for them (72%). However, 23% felt it would be difficult to choose, 15% would worry about making a choice, and nearly half would prefer a recommendation (48%). Compared with women with degree-level education, those with fewer qualifications were more likely to say they would worry about having a choice or would not want a choice (p < 0.001). The majority said they would choose to self-sample at home if offered a choice in the future (69%; n = 1602/2320).ConclusionsSelf-sampling is likely to be popular, but offering a choice could cause worry for some people and many would prefer a recommendation. Supporting people to make a choice will be important, particularly for those with lower levels of education.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"93-99"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The new NHS England 'ping and book' screening service is set to exclude thousands of women.","authors":"Hannah A Long, Lorna McWilliams, David P French","doi":"10.1177/09691413251316429","DOIUrl":"10.1177/09691413251316429","url":null,"abstract":"","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"106-107"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Percentage mammographic density or absolute breast density for risk stratification in breast screening: Possible implications for socioeconomic health disparity.","authors":"Sue Hudson, Nahid Kamangari, Louise S Wilkinson","doi":"10.1177/09691413241274291","DOIUrl":"10.1177/09691413241274291","url":null,"abstract":"<p><p>ObjectivesObesity levels and mortality from breast cancer are higher in more deprived areas of the UK, despite lower breast cancer incidence. Supplemental imaging for women with dense breasts has been proposed as a potential improvement to screening, but it is not clear how stratification by percentage mammographic density (%MD) would be reflected across socioeconomic groups. This study aims to clarify the associations between breast composition (dense and fatty tissue) and socioeconomic status in a multi-ethnic screening population.MethodsDemographic characteristics were collected for 62,913 participants in a UK breast screening programme (age, ethnicity, Index of Multiple Deprivation (IMD)). Automated mammographic measurements were derived: dense volume (DV), non-dense volume (NDV) and percent density (%MD). Correlations between deprivation and mammographic composition were examined before and after adjustment for age, ethnicity and NDV, using non-dense breast volume as a proxy for body mass index (BMI).ResultsThere was negligible correlation between deprivation and DV (r = 0.017; <i>P</i> < 0.001 in all cases), but NDV increased with increasing deprivation (Pearson r = 0.101). Correlations were weaker in the Asian and Chinese ethnic groups. %MD decreased with deprivation (r = -0.094) and adjustment for ethnicity did not alter the association between %MD and IMD (relative change, most to least deprived quintile IMD: 1.18; 95% confidence interval: 1.16, 1.21).ConclusionsDeprivation-related differences in %MD in the screening population are largely explained by differences in breast fat volume (NDV) which reflects BMI. Women in more deprived areas, where obesity and breast cancer mortality rates are higher, have increased breast adiposity and may miss out on risk-adapted screening if stratification is based solely on %MD or BIRADS classification.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"76-84"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Newborn screening for biliary atresia using direct bilirubin: An implementation science study.","authors":"Tebyan Rabbani, Jay Shah","doi":"10.1177/09691413241284243","DOIUrl":"10.1177/09691413241284243","url":null,"abstract":"<p><p>ObjectiveBiliary atresia (BA) is a liver disease of infancy characterized by obstruction of the biliary tree. Infants with BA have the best outcomes when identified early and the Kasai portoenterostomy is performed before 45 days of life (DoL). In our hospital system, the average age at Kasai was 60 DoL. To address the problem of late presentation, we implemented a two-stage BA screening strategy utilizing direct bilirubin (DB).MethodsNew institutional policies were established that all newborns were tested at 24-48 h of life, and those with levels ≥0.5 mg/dL were followed further. The infant's primary care provider was contacted to recommend a repeat DB at 2 weeks of life. If the repeat DB was ≥1.0 mg/dL, the patient was evaluated by gastroenterology.ResultsOver the 16 months, 3880 infants were born and 3861 (99.5%) were screened; 53 infants (1.3%) had DB levels ≥0.5 mg/dL initially. Upon repeat testing at 2 weeks, there were three groups of infants: not retested (<i>n</i> = 1), retested <1.0 mg/dL (<i>n</i> = 40), and retested ≥1.0 mg/dL (<i>n</i> = 12). The average time to be seen by gastroenterology was 4.3 days or 18.3 DoL.DiscussionThe screening included a series of steps that needed to be implemented effectively. Screening had a net false positive rate of 0.3% (12 out of 3861) and identified causes of cholestasis other than BA. BA was excluded by 28 DoL on average. Our results can provide a template for other institutions interested in implementing a BA screening protocol in their practice.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"61-66"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nina Fattahi, Olga Nilsson, Sverker Svensjö, Joy Roy, Anneli Linné, Rebecka Hultgren
{"title":"Anxiety and disease awareness in individuals with heredity for abdominal aortic aneurysm.","authors":"Nina Fattahi, Olga Nilsson, Sverker Svensjö, Joy Roy, Anneli Linné, Rebecka Hultgren","doi":"10.1177/09691413241278224","DOIUrl":"10.1177/09691413241278224","url":null,"abstract":"<p><p>ObjectiveThe psychological consequences of being aware of an increased risk of developing abdominal aortic aneurysm as a first-degree relative of a person with abdominal aortic aneurysm are hitherto unexplored. This study investigates the awareness of heritability and anxiety in male and female adult offspring of abdominal aortic aneurysm patients compared to controls. Health-related quality of life among participants with aortic pathology was compared to participants with normal aortic diameters.MethodsThis was a cross-sectional point prevalence study based on the participants examined in the Detecting Abdominal Aortic Aneurysm in First Degree Relatives Trial (DAAAD; 752 adult offspring, 756 matched controls), 2020-2022. Questionnaires about health-related quality of life and study-specific questions regarding awareness of heritability were collected prior to the aortic ultrasound.ResultsAttendance rate was higher among individuals with heredity compared to controls (67% vs. 52%, <i>p</i> < 0.001). Of 1508 adult offspring examined, 65% reported having a close relative with abdominal aortic aneurysm (6% in controls). Female adult offspring reported higher awareness of heritability than controls (38% vs. 12%, <i>p</i> < 0.001), as did males (32% vs. 8%, <i>p</i> < 0.001). A slight majority of participants with awareness reported anxiety (54% of female offspring; 51% of male). There were no measured differences in health-related quality of life between the groups when standard health-related quality of life instruments were used.ConclusionThe higher-than-expected proportion of adult offspring with awareness of heritability and anxiety about such risk indicates that we fail to communicate risk to this group appropriately via the current channels of information within the healthcare system. This calls for the development of dedicated strategies for improved communication of abdominal aortic aneurysm risk to patients and their next of kin.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"67-75"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Breast cancer mortality during the COVID-19 pandemic.","authors":"Camilla Mattiuzzi, Giuseppe Lippi","doi":"10.1177/09691413241278129","DOIUrl":"10.1177/09691413241278129","url":null,"abstract":"<p><p>Several lines of evidence suggest that breast cancer screening and treatment may have been compromised during the early phase of the COVID-19 pandemic. Using data from the US Centers for Disease Control and Prevention (CDC) WONDER database, we estimated the age-adjusted mortality rates for female breast cancer between 2018 and 2023. We found that the age-adjusted death rate for breast cancer decreased gradually from 2018 to 2019 and 2020. This downward trend reversed in 2021, with an increase in breast cancer mortality, which then declined further in 2022 and 2023. These findings indicate that breast cancer mortality may have increased slightly in 2021, possibly as a result of limited access to screening and timely treatment during the first phase of the COVID-19 pandemic, although the age-adjusted mortality rate continued to decline in the following two years.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"100-101"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Brittany Strelow, Joy Stevens, Stephanie Fink, Kristin Cole, Danielle O'Laughlin
{"title":"Improving access to cervical cancer screening: The impact of a Saturday pap smear clinic.","authors":"Brittany Strelow, Joy Stevens, Stephanie Fink, Kristin Cole, Danielle O'Laughlin","doi":"10.1177/09691413241281653","DOIUrl":"10.1177/09691413241281653","url":null,"abstract":"<p><p>IntroductionThe implementation of cervical cancer screening and human papillomavirus (HPV) vaccination has significantly reduced cervical cancer rates. However, it remains the fourth most common cancer among women globally. Barriers to screening include personal, health system, and insurance factors.MethodsTo address these barriers, a \"Saturday Pap smear Clinic\" was established to increase accessibility. The study included female patients aged 21 to 65 from Southeast Minnesota, USA, who attended the clinic from September 2021 to April 2023.ResultsA total of 357 women attended the Saturday clinic, with a median age of 44 years; 70.6% were White. Abnormal Pap smear results were found in 13.8% of attendees, with 7.8% testing positive for HPV. Additional health maintenance was addressed. The majority of patients had a physician primary care provider (58.3%), followed by residents (26.3%), and nurse practitioner/physician associates (15.4%).DiscussionThe clinic demonstrated a high fill rate of 86.15%, indicating demand for non-traditional appointment times. Despite this, disparities in access were noted, with primarily White and English-speaking women utilizing the clinic. The clinic showed improved outcomes compared to national screening rates, highlighting the importance of timely preventative care.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"102-105"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Women's experience of the information provided along with invitation to participate in BreastScreen Norway.","authors":"Nataliia Moshina, Marie Burns Bergan, Åsne Sørlien Holen, Gunhild Mangerud, Solveig Hofvind","doi":"10.1177/09691413241280791","DOIUrl":"10.1177/09691413241280791","url":null,"abstract":"<p><p>ObjectivesTo explore how women aged 50-69 invited to BreastScreen Norway perceived the information provided along with the invitation letter, as well as time spent on reading this information.MethodsAn anonymous questionnaire was sent, as a paper-based form along with a physical invitation letter, or as a link to a digital form in a digital invitation letter, to 84,543 women invited to BreastScreen Norway in 2022. The paper-based forms were handed in upon screening attendance. The women were invited to screening by physical or digital invitation including an information leaflet describing benefits and harms, or a link to similar information on a webpage. The questionnaire assessed women's perception of the information and time spent on reading it. Responses were presented by screening invitation type (physical/digital).ResultsA total of 9.9% (8355/84,543) of the women responded to the questionnaire. Among women invited by a physical letter, information about the screening examination and about benefits and harms was considered sufficient by 90% (4338/4797) and 89% (4246/4790), respectively, and 92% (4246/4790) reported the information to be sufficient to make an informed decision on participation. Among those invited digitally, the percentages were 83% (2788/3379), 78% (2618/3369), and 88% (2962/3370), respectively. About 59% (4807/8169) spent <5 min reading the information.ConclusionsMost of the respondents perceived the information received upon invitation to BreastScreen Norway sufficient to make an informed decision on participation and used <5 min to read the information. The results should be interpreted with caution due to the low response rate.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"85-92"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A retrospective cohort study investigating factors affecting recommendation for continued low-dose computed tomography lung cancer screening in the national lung cancer screening trial.","authors":"Brandon Buck, Annette Yates, Jessica Bui, Amanda McCoy, Lauren Wisnieski","doi":"10.1177/09691413251342740","DOIUrl":"https://doi.org/10.1177/09691413251342740","url":null,"abstract":"<p><p>ObjectiveTo analyze trends in recommending continuation of lung cancer screening across different risk factors and demographic groups using data from the National Lung Screening Trial (NLST).MethodsThis retrospective cohort study utilized de-identified NLST data from August 2002 to April 2004 and follow-up data collected through December 31, 2009, with 24,924 participants. Multivariable logistic regression was performed to assess the odds of continued low-dose computed tomography (LDCT) screening based on variables such as alcohol consumption, age, sex, race, ethnicity, education, diagnosis of chronic obstructive pulmonary disease (COPD), emphysema, chronic bronchitis, or pneumonia, occupational history, family history of lung cancer, and a previous cancer diagnosis for another type of cancer. Participants receiving chest X-rays, a previous diagnosis of lung cancer, or those with incomplete data were excluded from the analysis.ResultsParticipants who consumed five or more alcoholic drinks per day (OR = 2.19), identified as Asian (OR = 3.59) or Native American, Alaskan Native, or Pacific Islander (OR = 2.37), and multiracial participants (OR = 2.15) had significantly higher odds of the reporting radiologist to recommend continued screening compared to Caucasians, while Black participants had lower odds (OR = 0.85). Factors such as family history of lung cancer or respiratory diseases like chronic bronchitis, COPD, and emphysema reduced the odds of the reporting radiologist recommending continued screening.ConclusionsThe study highlights differences in lung cancer screening recommendations among demographic groups at the time the NLST data were collected. Given the evolving guidelines and practices for LDCT screening, further research is needed to understand how these patterns compare to current trends. It is noted that global lung cancer screening programs vary in their approach, offering comparisons with lung cancer prevention worldwide.</p>","PeriodicalId":51089,"journal":{"name":"Journal of Medical Screening","volume":" ","pages":"9691413251342740"},"PeriodicalIF":2.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}