{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T09:01:09Z","timestamp":1767085269017,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T00:00:00Z","timestamp":1747267200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Genetic testing is rapidly becoming standard practice in the care of critically ill newborns within NICUs. Numerous studies have demonstrated the utility of genetic testing, including changes in clinical care, improved diagnostic certainty, and cost savings, related to a reduced length of hospital stay. Changes in clinical management reported in previous studies also included redirection to comfort or end-of-life care. However, it has been difficult to study the influence of genetic testing in the redirection of care decisions within the NICU because of the complexity of the medical decision-making process. Redirection of care decisions are deeply personal for each individual family and often must be made in the setting of clinical instability and diagnostic and prognostic uncertainty. A recent study exploring the impact of genetic testing in redirection of care decisions by surveying palliative care providers suggested genetic testing plays a minor role in decisions to redirect to end-of-life care or in the implementation of DNR\/DNI orders. However, factors such inadequate treatment options were found to be important in redirection of care decisions, implying the need for further investigation to clarify the role of genetic testing. Future studies will need to focus on how genetic information affects healthcare provider recommendations regarding palliative care and how families use this information to make end-of-life care decisions.<\/jats:p>","DOI":"10.3390\/children12050634","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T04:39:16Z","timestamp":1747283956000},"page":"634","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The Role of Genetic Testing in Palliative Care Decisions for Critically Ill Newborns"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5687-7683","authenticated-orcid":false,"given":"Ashley","family":"Mowery","sequence":"first","affiliation":[{"name":"Pediatrics\/Neonatology, Spencer Fox Eccles School of Medicine, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Brunelli","sequence":"additional","affiliation":[{"name":"Pediatrics\/Neonatology, Spencer Fox Eccles School of Medicine, University of Utah, Salt Lake City, UT 84112, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1038\/s41525-018-0049-4","article-title":"Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization","volume":"3","author":"Farnaes","year":"2018","journal-title":"NPJ Genom. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/ajmg.a.61011","article-title":"Many newborns in level IV NICUs are eligible for rapid DNA sequencing","volume":"179","author":"Kapil","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Mowery, A., Wong, B., Seale, J., and Brunelli, L. (2024). Exploring the Role of Genetic Testing in Decisions to Redirect Care in Critically Ill Infants. Am. J. Hosp. Palliat. Care, 10499091241296544.","DOI":"10.1177\/10499091241296544"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Sanford Kobayashi, E., Waldman, B., Engorn, B.M., Perofsky, K., Allred, E., Briggs, B., Gatcliffe, C., Ramchandar, N., Gold, J.J., and Doshi, A. (2021). Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit. Front. Pediatr., 9.","DOI":"10.3389\/fped.2021.809536"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1001\/jamapediatrics.2021.3496","article-title":"Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial","volume":"175","author":"Krantz","year":"2021","journal-title":"JAMA Pediatr."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1016\/j.ajhg.2021.05.008","article-title":"Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children\u2019s hospitals demonstrates improved clinical outcomes and reduced costs of care","volume":"108","author":"Dimmock","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e347","DOI":"10.1542\/hpeds.2022-006654","article-title":"Rapid Genetic Testing in Pediatric and Neonatal Critical Care: A Scoping Review of Emerging Ethical Issues","volume":"12","author":"Chad","year":"2022","journal-title":"Hosp. Pediatr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/j.ajhg.2020.10.004","article-title":"A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants","volume":"107","author":"Cakici","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1038\/s41436-019-0644-5","article-title":"Parents of newborns in the NICU enrolled in genome sequencing research: Hopeful, but not na\u00efve","volume":"22","author":"Berrios","year":"2020","journal-title":"Genet. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1542\/peds.2018-1099D","article-title":"Rapid Challenges: Ethics and Genomic Neonatal Intensive Care","volume":"143","author":"Gyngell","year":"2019","journal-title":"Pediatrics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/s41372-021-01283-4","article-title":"How neonatologists use genetic testing: Findings from a national survey","volume":"42","author":"Callahan","year":"2022","journal-title":"J. Perinatol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"100926","DOI":"10.1016\/j.gim.2023.100926","article-title":"Provision and availability of genomic medicine services in Level IV neonatal intensive care units","volume":"25","author":"Wojcik","year":"2023","journal-title":"Genet. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e2021052130","DOI":"10.1542\/peds.2021-052130","article-title":"Influence of Genetic Information on Neonatologists\u2019 Decisions: A Psychological Experiment","volume":"149","author":"Callahan","year":"2022","journal-title":"Pediatrics"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"East, K.M., Cochran, M.E., Kelley, W.V., Greve, V., Finnila, C.R., Coleman, T., Jennings, M., Alexander, L., Rahn, E.J., and Danila, M.I. (2022). Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting. J. Pers. Med., 12.","DOI":"10.3390\/jpm12030405"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e173438","DOI":"10.1001\/jamapediatrics.2017.3438","article-title":"Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management","volume":"171","author":"Meng","year":"2017","journal-title":"JAMA Pediatr."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"113438","DOI":"10.1016\/j.jpeds.2023.113438","article-title":"Understanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns","volume":"258","author":"Lantos","year":"2023","journal-title":"J. Pediatr."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1624\/105812410X481546","article-title":"Parent Involvement in End-of-Life Care and Decision Making in the Newborn Intensive Care Unit: An Integrative Review","volume":"19","author":"Eden","year":"2010","journal-title":"J. Perinat. Educ."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Limacher, R., Fauch\u00e8re, J.C., Gubler, D., and Hendriks, M.J. (2023). Uncertainty and probability in neonatal end-of-life decision-making: Analysing real-time conversations between healthcare professionals and families of critically ill newborns. BMC Palliat. Care, 22.","DOI":"10.1186\/s12904-023-01170-z"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e641","DOI":"10.1136\/bmjspcare-2018-001538","article-title":"Palliative care in a tertiary neonatal intensive care unit: A 10-year review","volume":"12","author":"Ng","year":"2022","journal-title":"BMJ Support. Palliat. Care"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1080\/15265161.2021.2013978","article-title":"Genetic Testing Is Messier in Practice than in Theory: Lessons from Neonatology","volume":"22","author":"Callahan","year":"2022","journal-title":"Am. J. Bioeth."},{"key":"ref_21","first-page":"100581","article-title":"Newborn sequencing is only part of the solution for better child health","volume":"25","author":"Brunelli","year":"2023","journal-title":"Lancet Reg. Health Am."},{"key":"ref_22","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_23","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_24","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.jgg.2021.08.008","article-title":"Newborn screening with targeted sequencing: A multicenter investigation and a pilot clinical study in China","volume":"49","author":"Hao","year":"2022","journal-title":"J. Genet. Genom."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/5\/634\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:32:59Z","timestamp":1760031179000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/5\/634"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,15]]},"references-count":24,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,5]]}},"alternative-id":["children12050634"],"URL":"https:\/\/doi.org\/10.3390\/children12050634","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2025,5,15]]}}}