{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:20:49Z","timestamp":1790043649682,"version":"4.0.1"},"reference-count":53,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Toronto Genetic Counselling program"},{"name":"Jane Engelberg Memorial Fellowship Student Research Award"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>The use of next-generation sequencing technologies such as genomic sequencing in newborn screening (NBS) could enable the detection of a broader range of conditions. We explored parental preferences and attitudes towards screening for conditions for which varying types of treatment exist with a cross-sectional survey completed by 100 parents of newborns who received NBS in Ontario, Canada. The survey included four vignettes illustrative of hypothetical screening targets, followed by questions assessing parental attitudes. Chi-square tests were used to compare frequency distributions of preferences. Results show that most parents supported NBS for conditions for which only supportive interventions are available, but to a significantly lesser degree than those with disease-specific treatments (99% vs. 82\u201387%, p \u2264 0.01). For conditions without an effective treatment, the type of supportive care and age of onset of the condition did not significantly alter parent perceptions of risks and benefits. Parents are interested in expanded NBS for conditions with only supportive interventions in childhood, despite lower levels of perceived benefit for the child and greater anticipated anxiety from screen-positive results. These preferences suggest that the expansion of NBS may require ongoing deliberation of perceived benefits and risks and enhanced approaches to education, consent, and support.<\/jats:p>","DOI":"10.3390\/children10081362","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T10:08:59Z","timestamp":1691575739000},"page":"1362","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Parental Preferences for Expanded Newborn Screening: What Are the Limits?"],"prefix":"10.3390","volume":"10","author":[{"given":"Nicole S. Y.","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abby","family":"Watts-Dickens","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riyana","family":"Babul-Hirji","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranesh","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Newborn Screening Ontario, Ottawa, ON K1H 8M8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3269-8004","authenticated-orcid":false,"given":"Robin Z.","family":"Hayeems","sequence":"additional","affiliation":[{"name":"Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Health Policy, Management and Evaluation, University of Toronto, ON M5T 3M6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Pluscauskas, M., Henderson, M., Milburn, J., and Chakraborty, P. (2019). Building a newborn screening information management system from theory to practice. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5010009"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/gim.2015.111","article-title":"Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates","volume":"18","author":"Bodian","year":"2016","journal-title":"Genet. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"17641","DOI":"10.1038\/s41598-017-18038-x","article-title":"A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases","volume":"7","author":"Boemer","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Bick, D., Ahmed, A., Deen, D., Ferlini, A., Garnier, N., Kasperaviciute, D., Leblond, M., Pichini, A., Rendon, A., and Satija, A. (2022). Newborn Screening by Genomic Sequencing: Opportunities and Challenges. Int. J. Neonatal Screen., 8.","DOI":"10.3390\/ijns8030040"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"van Campen, J.C., Sollars, E.S.A., Thomas, R.C., Bartlett, C.M., Milano, A., Parker, M.D., Dawe, J., Winship, P.R., Peck, G., and Grafham, D. (2019). Next generation sequencing in newborn screening in the United Kingdom National Health Service. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5040040"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Friedman, J.M., Cornel, M.C., Goldenberg, A.J., Lister, K.J., S\u00e9n\u00e9cal, K., and Vears, D.F. (2017). Genomic newborn screening: Public health policy considerations and recommendations. BMC Med. Genom., 10.","DOI":"10.1186\/s12920-017-0247-4"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/gim.2016.67","article-title":"Variants of uncertain significance in newborn screening disorders: Implications for large-scale genomic sequencing","volume":"19","author":"Narravula","year":"2017","journal-title":"Genet. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.pcl.2017.11.013","article-title":"Newborn Screening: History, Current Status, and Future Directions","volume":"65","author":"Almannai","year":"2018","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"King, J.R., Grill, K., and Hammarstr\u00f6m, L. (2023). Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations. Int. J. Neonatal Screen., 9.","DOI":"10.3390\/ijns9020022"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1186\/s13063-018-2686-4","article-title":"Evaluating parents\u2019 decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: A randomized controlled trial protocol","volume":"19","author":"Milko","year":"2018","journal-title":"Trials"},{"key":"ref_11","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_12","doi-asserted-by":"crossref","first-page":"e20162252","DOI":"10.1542\/peds.2016-2252","article-title":"Newborn Sequencing in Genomic Medicine and Public Health","volume":"139","author":"Berg","year":"2017","journal-title":"Pediatrics"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Holm, I.A., Agrawal, P.B., Ceyhan-Birsoy, O., Christensen, K.D., Fayer, S., Frankel, L.A., Genetti, C.A., Krier, J.B., LaMay, R.C., and Levy, H.L. (2018). The BabySeq project: Implementing genomic sequencing in newborns. BMC Pediatr., 18.","DOI":"10.1186\/s12887-018-1200-1"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/bioe.12425","article-title":"Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening","volume":"32","author":"Oerlemans","year":"2018","journal-title":"Bioethics"},{"key":"ref_15","first-page":"349","article-title":"Principles and practice of screening for disease","volume":"123","author":"Wilson","year":"1968","journal-title":"Public Health Pap."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e19","DOI":"10.1016\/j.pedn.2017.10.002","article-title":"Public Attitudes toward Expanded Newborn Screening","volume":"38","author":"DeLuca","year":"2018","journal-title":"J. Pediatr. Nurs."},{"key":"ref_17","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_18","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/hex.12047","article-title":"Expectations and values about expanded newborn screening: A public engagement study","volume":"18","author":"Hayeems","year":"2015","journal-title":"Health Expect."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"S29","DOI":"10.1002\/hast.881","article-title":"Families\u2019 Experiences with Newborn Screening: A Critical Source of Evidence","volume":"48","author":"Grob","year":"2018","journal-title":"Hastings Cent. Rep."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"114367","DOI":"10.1016\/j.socscimed.2021.114367","article-title":"Absorbing it all: A meta-ethnography of parents\u2019 unfolding experiences of newborn screening","volume":"287","author":"White","year":"2021","journal-title":"Soc. Sci. Med."},{"key":"ref_21","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_22","unstructured":"Dillman, D.A. (2007). Mail and Internet Surveys: The Tailored Design Method, John Wiley & Sons Inc.. [2nd ed.]."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1038\/ejhg.2014.22","article-title":"Public views on participating in newborn screening using genome sequencing","volume":"22","author":"Bombard","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1038\/gim.2012.87","article-title":"Factors associated with knowledge of and satisfaction with newborn screening education: A survey of mothers","volume":"14","author":"Araia","year":"2012","journal-title":"Genet. Med."},{"key":"ref_25","first-page":"2134","article-title":"A Narrative on Using Vignettes: Advantages and Drawbacks","volume":"8","author":"Erfanian","year":"2020","journal-title":"J. Midwifery Reprod. Health"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0277-9536(01)00163-0","article-title":"Public trust in Dutch health care","volume":"55","author":"Straten","year":"2002","journal-title":"Soc. Sci. Med."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Mosegaard, S., Dipace, G., Bross, P., Carlsen, J., Gregersen, N., and Olsen, R.K.J. (2020). Riboflavin deficiency\u2014Implications for general human health and inborn errors of metabolism. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21113847"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.neubiorev.2019.05.013","article-title":"Rett syndrome before regression: A time window of overlooked opportunities for diagnosis and intervention","volume":"107","author":"Cosentino","year":"2019","journal-title":"Neurosci. Biobehav. Rev."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/s12519-019-00242-6","article-title":"Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy","volume":"15","author":"Ke","year":"2019","journal-title":"World J. Pediatr."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1007\/s10897-017-0129-0","article-title":"Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy","volume":"27","author":"Christian","year":"2018","journal-title":"J. Genet. Couns."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1038\/s41436-018-0105-6","article-title":"Parental interest in genomic sequencing of newborns: Enrollment experience from the BabySeq Project","volume":"21","author":"Genetti","year":"2019","journal-title":"Genet. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1038\/gim.2014.139","article-title":"Parents are interested in newborn genomic testing during the early postpartum period","volume":"17","author":"Waisbren","year":"2015","journal-title":"Genet. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/s41436-019-0745-1","article-title":"Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: The Baby Beyond Hearing project","volume":"22","author":"Downie","year":"2020","journal-title":"Genet. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1038\/gim.2013.24","article-title":"Preserving personal autonomy in a genomic testing era","volume":"15","author":"Lindor","year":"2013","journal-title":"Genet. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/jgc4.1355","article-title":"Attitudes toward population screening among people living with fragile X syndrome in the UK: \u2018I wouldn\u2019t wish him away, I\u2019d just wish his fragile X syndrome away","volume":"30","author":"Boardman","year":"2021","journal-title":"J. Genet. Couns."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2012\/280813","article-title":"Early Intervention Combined with Targeted Treatment Promotes Cognitive and Behavioral Improvements in Young Children with Fragile X Syndrome","volume":"2012","author":"Winarni","year":"2012","journal-title":"Case Rep. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"239694151772869","DOI":"10.1177\/2396941517728690","article-title":"Distance delivery of a parent-implemented language intervention for young boys with fragile X syndrome","volume":"2","author":"Bullard","year":"2017","journal-title":"Autism Dev. Lang. Impair."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"e2020011528","DOI":"10.1542\/peds.2020-011528","article-title":"Emergence of developmental delay in infants and toddlers with an fmr1 mutation","volume":"147","author":"Wheeler","year":"2021","journal-title":"Pediatrics"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/cge.12654","article-title":"Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care","volume":"89","author":"Sawyer","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1111\/cge.12732","article-title":"Diagnostic odyssey in severe neurodevelopmental disorders: Toward clinical whole-exome sequencing as a first-line diagnostic test","volume":"89","author":"Thevenon","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Okoniewski, K.C., Wheeler, A.C., Lee, S., Boyea, B., Raspa, M., Taylor, J.L., and Bailey, D.B. (2019). Early identification of fragile X syndrome through expanded newborn screening. Brain Sci., 9.","DOI":"10.3390\/brainsci9010004"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1001\/jamapediatrics.2021.2829","article-title":"Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial","volume":"176","author":"Pereira","year":"2021","journal-title":"JAMA Pediatr."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/gim.2017.93","article-title":"Parental preferences toward genomic sequencing for non-medically actionable conditions in children: A discrete-choice experiment","volume":"20","author":"Lewis","year":"2018","journal-title":"Genet. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.jpeds.2017.01.049","article-title":"Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis","volume":"184","author":"Hayeems","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/s41436-019-0670-3","article-title":"Health-care providers\u2019 perspectives on uncertainty generated by variant forms of newborn screening targets","volume":"22","author":"Azzopardi","year":"2020","journal-title":"Genet. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"e2021051740","DOI":"10.1542\/peds.2021-051740","article-title":"Outcomes of Cystic Fibrosis Screening\u2014Positive Infants with Inconclusive Diagnosis at School Age","volume":"148","author":"Gonska","year":"2021","journal-title":"Pediatrics"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"S6","DOI":"10.1542\/peds.2018-1099C","article-title":"Perceived Benefits, Risks and Utility of Newborn Genomic Sequencing in the BabySeq Project","volume":"143","author":"Pereira","year":"2019","journal-title":"Pediatrics"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"3011","DOI":"10.1038\/s41598-021-82725-z","article-title":"Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy","volume":"11","author":"Beckers","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1177\/1073110516654133","article-title":"Screening of newborns for disorders with high benefit- risk ratios should be mandatory","volume":"44","author":"Kelly","year":"2016","journal-title":"J. Law Med. Ethics"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1038\/ejhg.2014.289","article-title":"Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes","volume":"23","author":"Howard","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1001\/jama.2014.17488","article-title":"Newborn screening evolving challenges in an era of rapid discovery","volume":"313","author":"Bailey","year":"2015","journal-title":"JAMA\u2014J. Am. Med. Assoc."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1146\/annurev-genom-090711-163741","article-title":"Ethical Issues with Newborn Screening in the Genomics Era","volume":"13","author":"Tarini","year":"2012","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1016\/S0749-5978(02)00021-3","article-title":"Framing decisions: Hypothetical and real","volume":"89","author":"Perner","year":"2002","journal-title":"Organ. Behav. Hum. Decis. 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