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Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot. DNA筛查全国成人基因组筛查试点的可行性与结果。

Nature health Pub Date : 2026-01-01 Epub Date: 2026-01-15 DOI: 10.1038/s44360-025-00020-x

Paul Lacaze, Jane Tiller, Adam Brotchie, Tu Nguyen-Dumont, Jason Steen, Dan Belluoccio, Mary-Anne Young, Amanda M Willis, Lucas A Mitchell, Bronwyn Terrill, Kristen J Nowak, Belinda Burns, Ari E Horton, Stephen J Nicholls, Zanfina Ademi, Robert C Green, Ranjit Manchanda, Bryony A Thompson, David Thomas, Roger L Milne, Fiona Bruinsma, Martin B Delatycki, Jing Pang, Gerald F Watts, Finlay Macrae, Nicola Poplawski, Judy Kirk, Kathy Tucker, Lesley Andrews, Mathew Wallis, Rachel Susman, Nicholas Pachter, David Sullivan, Abiramy Ragunathan, Paul James, John Zalcberg, John J McNeil, Melissa C Southey, Ingrid Winship

{"title":"Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.","authors":"Paul Lacaze, Jane Tiller, Adam Brotchie, Tu Nguyen-Dumont, Jason Steen, Dan Belluoccio, Mary-Anne Young, Amanda M Willis, Lucas A Mitchell, Bronwyn Terrill, Kristen J Nowak, Belinda Burns, Ari E Horton, Stephen J Nicholls, Zanfina Ademi, Robert C Green, Ranjit Manchanda, Bryony A Thompson, David Thomas, Roger L Milne, Fiona Bruinsma, Martin B Delatycki, Jing Pang, Gerald F Watts, Finlay Macrae, Nicola Poplawski, Judy Kirk, Kathy Tucker, Lesley Andrews, Mathew Wallis, Rachel Susman, Nicholas Pachter, David Sullivan, Abiramy Ragunathan, Paul James, John Zalcberg, John J McNeil, Melissa C Southey, Ingrid Winship","doi":"10.1038/s44360-025-00020-x","DOIUrl":"10.1038/s44360-025-00020-x","url":null,"abstract":"Population genomic screening enables the identification of individuals at high risk of medically actionable conditions before disease onset, yet real-world feasibility studies are lacking. Informed by prior cost-effectiveness modelling, we conducted a prospective nationwide pilot targeting young adults in Australia (aged 18 to 40 years), offering genomic screening for 10 genes linked to hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia. Of 30,017 registrants, 18,573 were invited and 10,263 completed genomic screening (median age 31.9 years; 45.5% men; 30.0% culturally or linguistically diverse). We detected pathogenic/likely pathogenic variants in 202 (2.0%). Of the 189 referred for clinical follow-up, 97.9% accepted and 87.3% attended appointments. Notably, 74.5% of attendees were ineligible for government-funded criteria-based genomic testing. Our findings demonstrate the feasibility of adult population genomic screening, including high public engagement, clinical uptake, and identification of individuals ineligible for current criteria, supporting the further development of adult population genomic screening in Australia.","PeriodicalId":521227,"journal":{"name":"Nature health","volume":"1 1","pages":"90-98"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13505400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148820805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Predicting schistosome transmission in rural Uganda using water contact data from wearable GPS devices. 利用来自可穿戴GPS设备的水接触数据预测乌干达农村血吸虫传播。

Nature health Pub Date : 2026-01-01 Epub Date: 2026-05-22 DOI: 10.1038/s44360-026-00118-w

Fabian Reitzug, Melissa A Iacovidou, Narcis B Kabatereine, Betty Nabatte, Max T Eyre, Benjamin Tinkitina, Anatol M Byaruhanga, Renaud Lambiotte, Goylette F Chami

{"title":"Predicting schistosome transmission in rural Uganda using water contact data from wearable GPS devices.","authors":"Fabian Reitzug, Melissa A Iacovidou, Narcis B Kabatereine, Betty Nabatte, Max T Eyre, Benjamin Tinkitina, Anatol M Byaruhanga, Renaud Lambiotte, Goylette F Chami","doi":"10.1038/s44360-026-00118-w","DOIUrl":"10.1038/s44360-026-00118-w","url":null,"abstract":"Granular spatial data and models of human behaviour are currently lacking for schistosomiasis. We collected ten days of wearable GPS logger data from 452 individuals in rural Uganda to model water contact as a proxy indicator of usage at 69 georeferenced open-water sites and 32 public taps or boreholes. Among participants, 63.9 and 33.2% visited at least one water site and tap or borehole, respectively. Exponential spatial decay models accurately predicted site-specific open-water contact (area under the receiver operating characteristic curve = 0.87) and tap or borehole usage (0.92). There was no evidence of tap or borehole usage influencing open-water contact. Incorporating mobility terciles did not improve simple spatial decay models. Integrating spatial decay-based estimates of open-water-site usage into an individual-based transmission model produced realistic estimates of one-year Schistosoma mansoni reinfection and provided a ranking of water sites contributing to transmission. Our spatial decay models offer scalable tools for focal interventions for schistosomiasis.","PeriodicalId":521227,"journal":{"name":"Nature health","volume":"1 8","pages":"850-864"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148674937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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