Karoline Freeman, Jacqueline Dinnes, Bethany Shinkins, Corinna Clark, Inès Kander, Katie Scandrett, Shivashri Chockalingam, Aziza Osman, Naila Dracup, Rachel Court, Furqan Butt, Cristina Visintin, James R Bonham, David Elliman, Graham Shortland, Anne Mackie, Zosia Miedzybrodzka, Sian Morgan, Felicity Boardman, Yemisi Takwoingi, Sian Taylor-Phillips
{"title":"Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews","authors":"Karoline Freeman, Jacqueline Dinnes, Bethany Shinkins, Corinna Clark, Inès Kander, Katie Scandrett, Shivashri Chockalingam, Aziza Osman, Naila Dracup, Rachel Court, Furqan Butt, Cristina Visintin, James R Bonham, David Elliman, Graham Shortland, Anne Mackie, Zosia Miedzybrodzka, Sian Morgan, Felicity Boardman, Yemisi Takwoingi, Sian Taylor-Phillips","doi":"10.1101/2024.09.03.24312979","DOIUrl":null,"url":null,"abstract":"<strong>Background</strong> Assessment of newborn screening using whole genome sequencing (WGS) presents considerable challenges for policy advisors, not least given the logistics of simultaneously evaluating the evidence for 200 rare genetic conditions. The ‘genotype first’ approach has the potential for harms, and benefits are uncertain.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"111 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"medRxiv - Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/2024.09.03.24312979","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Background Assessment of newborn screening using whole genome sequencing (WGS) presents considerable challenges for policy advisors, not least given the logistics of simultaneously evaluating the evidence for 200 rare genetic conditions. The ‘genotype first’ approach has the potential for harms, and benefits are uncertain.
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