{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:17:15Z","timestamp":1791314235487,"version":"4.3.1"},"reference-count":55,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"NHGRI","doi-asserted-by":"publisher","award":["R01HG012271"],"award-info":[{"award-number":["R01HG012271"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in the healthy population. The age-based genomic screening (ABGS) approach is a novel alternative to genome-scale sequencing at birth that aims to provide highly actionable genetic information to parents over the course of their child\u2019s routine health care. ABGS utilizes an established metric to identify conditions with high clinical actionability and incorporates information about the age of onset and age of intervention to determine the optimal time to screen for any given condition. Ongoing partnerships with parents and providers are instrumental to the co-creation of educational resources and strategies to address potential implementation barriers. Implementation science frameworks and informative empirical data are used to evaluate strategies to establish this unique clinical application of targeted genomic sequencing. Ultimately, a pilot project conducted in primary care pediatrics clinics will assess patient and implementation outcomes, parent and provider perspectives, and the feasibility of ABGS. A validated, stakeholder-informed, and practical ABGS program will include hundreds of conditions that are actionable during infancy and childhood, setting the stage for a longitudinal implementation that can assess clinical and health economic outcomes.<\/jats:p>","DOI":"10.3390\/ijns9030036","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T01:49:21Z","timestamp":1687830561000},"page":"36","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8060-9013","authenticated-orcid":false,"given":"Laura V.","family":"Milko","sequence":"first","affiliation":[{"name":"Department of Genetics, University of North Carolina at Chapel Hill, 120 Mason Farm Rd., Chapel Hill, NC 27599-7264, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2360-2664","authenticated-orcid":false,"given":"Jonathan S.","family":"Berg","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of North Carolina at Chapel Hill, 120 Mason Farm Rd., Chapel Hill, NC 27599-7264, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2418","DOI":"10.1056\/NEJMra1312543","article-title":"Diagnostic clinical genome and exome sequencing","volume":"370","author":"Biesecker","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1146\/annurev-genom-083115-022348","article-title":"Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing","volume":"17","author":"Strande","year":"2016","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S2213-2600(15)00139-3","article-title":"Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: A retrospective analysis of diagnostic and clinical findings","volume":"3","author":"Willig","year":"2015","journal-title":"Lancet Respir. Med."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Berg, J.S., and Powell, C.M. (2015). Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening. Cold Spring Harb. Perspect. Med., 5.","DOI":"10.1101\/cshperspect.a023150"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s40291-022-00590-6","article-title":"A window of opportunity for newborn screening","volume":"26","author":"Bailey","year":"2022","journal-title":"Mol. Diagn. Ther."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1016\/j.ajhg.2022.08.003","article-title":"A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases","volume":"109","author":"Kingsmore","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.mayocp.2018.08.028","article-title":"Reconciling opportunistic and population screening in clinical genomics","volume":"94","author":"Brothers","year":"2019","journal-title":"Mayo Clin. Proc."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/s41431-019-0547-6","article-title":"Primary care provider perspectives on using genomic sequencing in the care of healthy children","volume":"28","author":"Joshi","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/gim.2015.73","article-title":"Parents\u2019 experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns","volume":"18","author":"Kerruish","year":"2016","journal-title":"Genet. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1007\/s10995-020-02953-z","article-title":"Parental views on newborn next generation sequencing: Implications for decision support","volume":"24","author":"Moultrie","year":"2020","journal-title":"Matern. Child Health J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ajhg.2015.05.022","article-title":"Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents","volume":"97","author":"Botkin","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/gim.2012.176","article-title":"American Academy of Pediatrics; American College of Medical Genetics and Genomics Technical report: Ethical and policy issues in genetic testing and screening of children","volume":"15","author":"Ross","year":"2013","journal-title":"Genet. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1002\/hast.874","article-title":"Members of the NSIGHT Ethics and Policy Advisory Board Sequencing newborns: A call for nuanced use of genomic technologies","volume":"48 Suppl 2","author":"Johnston","year":"2018","journal-title":"Hastings Cent. Rep."},{"key":"ref_14","unstructured":"(2017). The American Academy of Pediatrics and Bright Futures 2017 recommendations for preventive pediatric health care. Pediatrics, 139, e20170254."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1080\/14737159.2017.1346473","article-title":"Genetic screening: Birthright or earned with age?","volume":"17","author":"Mollison","year":"2017","journal-title":"Expert Rev. Mol. Diagn."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1038\/gim.2013.11","article-title":"We screen newborns, don\u2019t we?: Realizing the promise of public health genomics","volume":"15","author":"Evans","year":"2013","journal-title":"Genet. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1001\/jama.2019.18640","article-title":"DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps","volume":"323","author":"Murray","year":"2020","journal-title":"JAMA"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1038\/gim.2017.144","article-title":"Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: The IGNITE Network\u2019s Common Measures Working Group","volume":"20","author":"Orlando","year":"2018","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Weitzel, K.W., Alexander, M., Bernhardt, B.A., Calman, N., Carey, D.J., Cavallari, L.H., Field, J.R., Hauser, D., Junkins, H.A., and Levin, P.A. (2016). IGNITE Network The IGNITE network: A model for genomic medicine implementation and research. BMC Med. Genomics, 9.","DOI":"10.1186\/s12920-015-0162-5"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1038\/s41436-018-0378-9","article-title":"Qualitative study of system-level factors related to genomic implementation","volume":"21","author":"Zebrowski","year":"2019","journal-title":"Genet. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.ajhg.2018.08.007","article-title":"The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations","volume":"103","author":"Amendola","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Khoury, M.J., Feero, W.G., Chambers, D.A., Brody, L.C., Aziz, N., Green, R.C., Janssens, A.C.J.W., Murray, M.F., Rodriguez, L.L., and Rutter, J.L. (2018). A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health. PLoS Med., 15.","DOI":"10.1371\/journal.pmed.1002650"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Murray, M.F., Evans, J.P., Angrist, M., Uhlmann, W.R., Lochner Doyle, D., Fullerton, S.M., Ganiats, T.G., Hagenkord, J., Imhof, S., and Rim, S.H. (2018). A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. NAM Perspectives.","DOI":"10.31478\/201812a"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"865384","DOI":"10.3389\/fgene.2022.865384","article-title":"Barriers and facilitators for population genetic screening in healthy populations: A systematic review","volume":"13","author":"Shen","year":"2022","journal-title":"Front. Genet."},{"key":"ref_25","first-page":"1","article-title":"Evaluating primary care providers\u2019 readiness for delivering genetic and genomic services to underserved populations","volume":"25","author":"Sharma","year":"2021","journal-title":"Public Health Genomics"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"866062","DOI":"10.3389\/fgene.2022.866062","article-title":"Interest in cancer predisposition testing and carrier screening offered as part of routine healthcare among an ethnically diverse sample of young women","volume":"13","author":"Kaphingst","year":"2022","journal-title":"Front. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"435","DOI":"10.2217\/pme-2020-0074","article-title":"Engaging community stakeholders in research on best practices for clinical genomic sequencing","volume":"17","author":"Griesemer","year":"2020","journal-title":"Per. Med."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1097\/GIM.0b013e318220aaba","article-title":"Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time","volume":"13","author":"Berg","year":"2011","journal-title":"Genet. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/gim.2015.104","article-title":"A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing","volume":"18","author":"Berg","year":"2016","journal-title":"Genet. Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1038\/gim.2016.40","article-title":"A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation","volume":"18","author":"Hunter","year":"2016","journal-title":"Genet. Med."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1016\/j.gim.2022.02.019","article-title":"ClinGen ClinGen\u2019s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents","volume":"24","author":"Hunter","year":"2022","journal-title":"Genet. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.jpeds.2018.12.027","article-title":"An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening","volume":"209","author":"Milko","year":"2019","journal-title":"J. Pediatr."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13073-021-00867-1","article-title":"Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making","volume":"13","author":"DeCristo","year":"2021","journal-title":"Genome Med."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"van der Pal, S.M., Wins, S., Klapwijk, J.E., van Dijk, T., Kater-Kuipers, A., van der Ploeg, C.P.B., Jans, S.M.P.J., Kemp, S., Verschoof-Puite, R.K., and van den Bosch, L.J.M. (2022). Parents\u2019 views on accepting, declining, and expanding newborn bloodspot screening. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0272585"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13012-022-01201-y","article-title":"Revisiting concepts of evidence in implementation science","volume":"17","author":"Brownson","year":"2022","journal-title":"Implement. Sci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1061329","DOI":"10.3389\/fgene.2022.1061329","article-title":"Editorial: DNA-based population screening for precision public health","volume":"13","author":"Milko","year":"2022","journal-title":"Front. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1146\/annurev-publhealth-052220-112457","article-title":"Designing for dissemination and sustainability to promote equitable impacts on health","volume":"43","author":"Kwan","year":"2022","journal-title":"Annu. Rev. Public Health"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"263348952110494","DOI":"10.1177\/26334895211049482","article-title":"Application of an antiracism lens in the field of implementation science (IS): Recommendations for reframing implementation research with a focus on justice and racial equity","volume":"2","author":"Shelton","year":"2021","journal-title":"Implement. Res. Pract."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1016\/j.ajhg.2019.04.006","article-title":"The genomic medicine integrative research framework: A conceptual framework for conducting genomic medicine research","volume":"104","author":"Horowitz","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"259","DOI":"10.2217\/pme-2019-0021","article-title":"What will it take to implement genomics in practice? Lessons from the IGNITE Network","volume":"16","author":"Ginsburg","year":"2019","journal-title":"Per. Med."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/1748-5908-4-50","article-title":"Fostering implementation of health services research findings into practice: A consolidated framework for advancing implementation science","volume":"4","author":"Damschroder","year":"2009","journal-title":"Implement. Sci."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13012-016-0437-z","article-title":"A systematic review of the use of the Consolidated Framework for Implementation Research","volume":"11","author":"Kirk","year":"2016","journal-title":"Implement. Sci."},{"key":"ref_43","unstructured":"(2020, March 03). IGNITE Toolbox. Available online: https:\/\/gmkb.org\/ignite-toolbox-overview\/."},{"key":"ref_44","unstructured":"(2020, August 12). Clinical Sequencing Evidence-Generating Research CSER Research Materials. Available online: https:\/\/cser-consortium.org\/cser-research-materials."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1002\/ajmg.a.62619","article-title":"Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics","volume":"188","author":"Halley","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e2114336","DOI":"10.1001\/jamanetworkopen.2021.14336","article-title":"Principles of genomic newborn screening programs: A systematic review","volume":"4","author":"Downie","year":"2021","journal-title":"JAMA Netw. Open"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"e20193111","DOI":"10.1542\/peds.2019-3111","article-title":"Considering equity in assessing familial benefit from the return of genomic research results","volume":"144","author":"Goldenberg","year":"2019","journal-title":"Pediatrics"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1038\/s41431-020-0657-1","article-title":"Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR)","volume":"28","author":"Henderson","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"5","DOI":"10.2217\/pme-2019-0106","article-title":"Genomic testing is best integrated into clinical practice when it is actionable","volume":"17","author":"Linsky","year":"2020","journal-title":"Per. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"101","DOI":"10.2217\/pme-2019-0067","article-title":"Assessing the implications of positive genomic screening results","volume":"17","author":"Waltz","year":"2020","journal-title":"Per. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/ajmg.c.30165","article-title":"Attitudes regarding predictive genetic testing in minors: A survey of European clinical geneticists","volume":"148C","author":"Borry","year":"2008","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/ejhg.2009.25","article-title":"Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG) Genetic testing in asymptomatic minors: Background considerations towards ESHG Recommendations","volume":"17","author":"Borry","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"229cm2","DOI":"10.1126\/scitranslmed.3008494","article-title":"Whole-genome sequencing in newborn screening programs","volume":"6","author":"Knoppers","year":"2014","journal-title":"Sci. Transl. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1038\/ejhg.2014.221","article-title":"Genetic testing of children for adult-onset conditions: Opinions of the British adult population and implications for clinical practice","volume":"23","author":"Fenwick","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"867030","DOI":"10.3389\/fgene.2022.867030","article-title":"Parental guidance suggested: Engaging parents as partners in research studies of genomic screening for a pediatric population","volume":"13","author":"Powell","year":"2022","journal-title":"Front. Genet."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/9\/3\/36\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:01:30Z","timestamp":1760126490000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/9\/3\/36"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,27]]},"references-count":55,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["ijns9030036"],"URL":"https:\/\/doi.org\/10.3390\/ijns9030036","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,27]]}}}