NICUSSG, KID, ML, WJM, WKT, BS, DB, HT, BL, FKP, A-RO, EJC, HD, DD, CJ, FL, KJ, SAJ, V-SOM, WK, ZN, SM, WJA, BD, CFS, WDJ, UN, HS, MR, MHJ, PEK, WJC, TA, BCW, BJW, OJL, RKD, BWT, PDL, ASS, HRT, BM, RV, TRJ (2021) Effect of Whole-Genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: A randomized clinical trial. JAMA Pediatr 175(12):1218–1226. https://doi.org/10.1001/jamapediatrics.2021.3496. Erratum in: JAMA Pediatr. 2021;175(12):1295. PMID: 34570182; PMCID: PMC8477301
Akbari H, Sunderraj A, Sanchez-Pinto N, Berg AT, George AL, Pardo AC (2022) Genetic testing and hospital length of stay in neonates with epilepsy. Pediatr Neurol 133:30–33. https://doi.org/10.1016/j.pediatrneurol.2022.05.011
Article PubMed PubMed Central Google Scholar
Beck AF, Edwards EM, Horbar JD, Howell EA, McCormick MC, Pursley DM (2020) The color of health: how racism, segregation, and inequality affect the health and well-being of preterm infants and their families. Pediatr Res 87(2):227–234. https://doi.org/10.1038/s41390-019-0513-6Epub 2019 Jul 29. PMID: 31357209; PMCID: PMC6960093
Browner CH, Preloran HM, Cox SJ (1999) Ethnicity, bioethics, and prenatal diagnosis: the amniocentesis decisions of Mexican-origin women and their partners. Am J Public Health 89(11):1658–1666. https://doi.org/10.2105/ajph.89.11.1658PMID: 10553385; PMCID: PMC1508988
Article CAS PubMed PubMed Central Google Scholar
Callahan KP, Radack J, Wojcik MH, Jenkins SM, Nye RT, Skraban C, Wild KT, Feudtner C (2023) Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016 to 2021. Genet Sci 25(3):100357. https://doi.org/10.1016/j.gim.2022.12.004
Carroll J, Wigby K, Murray S (2020) Genetic testing strategies in the newborn. J Perinatol 40:1007–1016. https://doi.org/10.1038/s41372-020-0697-y
Cooper LA, Roter DL, Carson KA, Beach MC, Sabin JA, Greenwald AG, Inui TS (2012) The associations of clinicians’ implicit attitudes about race with medical visit communication and patient ratings of interpersonal care. Am J Public Health 102(5):979–987 Epub 2012 Mar 15. PMID: 22420787; PMCID: PMC3483913
PubMed PubMed Central Google Scholar
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF (2020) RCIGM investigators. An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm. Am J Hum Genet 107(5):942–952. https://doi.org/10.1016/j.ajhg.2020.10.003PMID: 33157007; PMCID: PMC7675004
Article CAS PubMed PubMed Central Google Scholar
Diversitydatakids.org. (2023) Child Opportunity Index 2.0 ZIP Code data, retrieved from https://data.diversitydatakids.org/dataset/coi20_zipcodes-child-opportunity-index-2-0-zip-code-data?_external=True on Mar 20 2024
Durbin MD, Fairman K, Helvaty LR, Huang M, Li M, Abreu D, Geddes GC, Helm BM, Landis BJ, McEntire A, Mitchell DK, Ware SM (2023) Genetic testing guidelines impact care in newborns with congenital heart defects. J Pediatr 260:113495. https://doi.org/10.1016/j.jpeds.2023.113495Epub 2023 May 20. PMID: 37211210; PMCID: PMC10660555
Article CAS PubMed PubMed Central Google Scholar
Ely DM, Driscoll AK, Infant mortality in the United States (2021) Data from the period linked birth/infant death file. Natl Vital Stat Rep 72(11) Hyattsville, MD: National Center for Health Statistics. https://doi.org/10.15620/cdc:131356
Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN, Friedman J, Gold JJ, Ding Y, Veeraraghavan N, Dimmock D, Kingsmore SF (2018) Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med 3:10. https://doi.org/10.1038/s41525-018-0049-4PMID: 29644095; PMCID: PMC5884823
Article CAS PubMed PubMed Central Google Scholar
Findley TO, Parchem JG, Ramdaney A, Morton SU (2023) Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases. Transl Pediatr.;12(5):1028–1040. doi: 10.21037/tp-23-54. Epub 2023 May 4. PMID: 37305724; PMCID: PMC10248941
Green AR, Carney DR, Pallin DJ, Ngo LH, Raymond KL, Iezzoni LI, Banaji MR (2007) Implicit bias among physicians and its prediction of thrombolysis decisions for black and white patients. J Gen Intern Med 22(9):1231–1238. https://doi.org/10.1007/s11606-007-0258-5Epub 2007 Jun 27. PMID: 17594129; PMCID: PMC2219763
Article PubMed PubMed Central Google Scholar
Horton RH, Lucassen AM (2019) Recent developments in genetic/genomic medicine. Clin Sci (Lond).;133(5):697–708. doi: 10.1042/CS20180436. PMID: 30837331; PMCID: PMC6399103. (Recent developments in genetic/genomic medicine - PMC (nih.gov))
Howell EA, Janevic T, Hebert PL, Egorova NN, Balbierz A, Zeitlin J (2018) Differences in morbidity and mortality rates in black, white, and Hispanic very preterm infants among new York City hospitals. JAMA Pediatr 172(3):269–277. https://doi.org/10.1001/jamapediatrics.2017.4402PMID: 29297054; PMCID: PMC5796743
Article PubMed PubMed Central Google Scholar
Hunt LM, de Voogd KB (2007) Are good intentions good enough? Informed consent without trained interpreters. J Gen Intern Med 22(5):598–605. https://doi.org/10.1007/s11606-007-0136-1
Article PubMed PubMed Central Google Scholar
Lee JS, Pérez-Stable EJ, Gregorich SE, Crawford MH, Green A, Livaudais-Toman J, Karliner LS (2017) Increased access to professional interpreters in the hospital improves informed consent for patients with limited english proficiency. J Gen Intern Med 32(8):863–870. https://doi.org/10.1007/s11606-017-3983-4Epub 2017 Feb 9. PMID: 28185201; PMCID: PMC5515780
Article PubMed PubMed Central Google Scholar
Lucassen A, Hall A (2012) Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information. Clin Med (Lond) 12(1):5–6. https://doi.org/10.7861/clinmedicine.12-1-5PMID: 22372209; PMCID: PMC4953419
Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM (2021) ACMG board of directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American college of medical genetics and genomics (ACMG). Genet Med 23(11):2029–2037. https://doi.org/10.1038/s41436-021-01242-6Epub 2021 Jul 1. PMID: 34211152
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5):749–764. https://doi.org/10.1016/j.ajhg.2010.04.006PMID: 20466091; PMCID: PMC2869000
Article CAS PubMed PubMed Central Google Scholar
Origlia Ikhilor P, Hasenberg G, Kurth E, Asefaw F, Pehlke-Milde J, Cignacco E (2019) Communication barriers in maternity care of allophone migrants: experiences of women, healthcare professionals, and intercultural interpreters. J Adv Nurs 75(10):2200–2210. https://doi.org/10.1111/jan.14093Epub 2019 Jun 21. PMID: 31172543; PMCID: PMC6852258
Article PubMed PubMed Central Google Scholar
Profit J, Gould JB, Bennett M, Goldstein BA, Draper D, Phibbs CS, Lee HC (2017) Racial/Ethnic disparity in NICU quality of care delivery. Pediatrics 140(3):e20170918. https://doi.org/10.1542/peds.2017-0918PMID: 28847984; PMCID: PMC5574732
Rhine WD (2016) Technology– considerations for the NICU of the future. Newborn Infant Nurs Reviews 16(4):208–212. https://doi.org/10.1053/j.nainr.2016.09.005
Sabin JA, Greenwald AG (2012) The influence of implicit bias on treatment recommendations for 4 common pediatric conditions: pain, urinary tract infection, attention deficit hyperactivity disorder, and asthma. Am J Public Health 102(5):988–995. https://doi.org/10.2105/AJPH.2011.300621Epub 2012 Mar 15. PMID: 22420817; PMCID: PMC3483921
Article PubMed PubMed Central Google Scholar
Saulsberry K, Terry SF (2013) The need to build trust: a perspective on disparities in genetic testing. Genetic Test Mol Biomarkers 17(9):647–648. https://doi.org/10.1089/gtmb.2013.1548
Sheppard VB, Mays D, LaVeist T, Tercyak KP (2013 Spring) Medical mistrust influences black women’s level of engagement in BRCA 1/2 genetic counseling and testing. J Natl Med Assoc 105(1):17–22. https://doi.org/10.1016/s0027-9684(15)30081-xPMID: 23862292; PMCID: PMC3721431
Sigurdson K, Morton C, Mitchell B (2018) Disparities in NICU quality of care: a qualitative study of family and clinician accounts. J Perinatol 38:600–607. https://doi.org/10.1038/s41372-018-0057-3
Article PubMed PubMed Central Google Scholar
Spees LP, Hicklin K, Adams MC, Farnan L, Bensen JT, Gilleskie DB, Berg JS, Powell BC, Lich KH (2022) Testing and extending strategies for identifying genetic disease-related encounters in pediatric patients. Genet Med 24(4):831–838. https://doi.org/10.1016/j.gim.2021.12.001Epub 2022 Jan 13. PMID: 35034852; PMCID: PMC8995346. (Testing and Extending Strategies for Identifying Genetic Disease-Related Encounters in Pediatric Patients - PMC (nih.gov))
Article CAS PubMed PubMed Central Google Scholar
Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM (2016) A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med.;18(11):1090–1096. https://doi.org/10.1038/gim.2016.1. Epub 2016 Mar 3. PMID: 26938784
Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, Lunke S, Tan TY, Gaff CL, White SM (2019) Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness. Genet Med.;21(1):173–180. https://doi.org/10.1038/s41436-018-0006-8. Epub 2018 May 15. Erratum in: Genet Med. 2018;: PMID: 29765138
Suther S, Kiros GE (2009) Barriers to the use of genetic testing: A study of Racial and ethnic disparities. Genet Med 11:655–662. https://doi.org/10.1097/GIM.0b013e3181ab22aa
Swaggart KA, Swarr DT, Tolusso LK, He H, Dawson DB, Suhrie KR (2019) Making a genetic diagnosis in a level IV neonatal intensive care unit population: who, when, how, and at what cost?? J Pediatr 213:211–217e214. https://doi.org/10.1016/j.jpeds.2019.05.054
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