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Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.

ABSTRACT: Genetic disorders are a leading cause of morbidity and mortality in infants admitted to neonatal intensive care units. This population has immense potential to benefit from genomic medicine, as early precision diagnosis is critical to early personalized management. However, the implementation of genomic medicine in neonatology thus far has arguably worsened health inequities, and strategies are urgently needed to achieve equitable access to genomics in neonatal care. In this perspective, we demonstrate the utility of genomic sequencing in critically ill infants and highlight three key recommendations to advance equitable access: recruitment of underrepresented populations, education of non-genetics providers to empower practice of genomic medicine, and development of innovative infrastructure to implement genomic medicine across diverse settings.

SUBMITTER: D'Gama AM

PROVIDER: S-EPMC9918837 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.

D'Gama Alissa M AM Agrawal Pankaj B PB

Journal of perinatology : official journal of the California Perinatal Association 20230211 7

Genetic disorders are a leading cause of morbidity and mortality in infants admitted to neonatal intensive care units. This population has immense potential to benefit from genomic medicine, as early precision diagnosis is critical to early personalized management. However, the implementation of genomic medicine in neonatology thus far has arguably worsened health inequities, and strategies are urgently needed to achieve equitable access to genomics in neonatal care. In this perspective, we demo ...[more]

PMID: 36774516

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Project description:Objective: To describe cardiovascular pharmacological support in infants born at <34 weeks' gestation within the first postnatal week in Chinese neonatal intensive care units (NICUs). Design: A secondary analysis of data from a multicenter randomized controlled study (REIN-EPIQ). A questionnaire regarding cardiovascular support practices was also completed by all participating NICUs. Setting: Twenty-five tertiary hospitals from 19 provinces in China. Patients: All infants born at <34 weeks' gestation and admitted to participating NICUs within the first postnatal week from May 2015 to April 2018 were included. Infants who were discharged against medical advice were excluded. Measures and Main Results: Among the 26,212 preterm infants <34 weeks, 16.1% received cardiovascular pharmacological support. The use rates increased with decreasing gestational age and birth weight, with 32.5% among infants <28 weeks and 35.9% among infants <1,000 g. Cardiovascular pharmacological support was independently associated with higher risks of death (aOR 2.8; 95% CI 2.4-3.3), severe intraventricular hemorrhage (IVH) (aOR 2.1; 95% CI 1.8-2.5) and bronchopulmonary dysplasia (BPD) (aOR 2.2; 95% CI 2.0-2.5). Overall 63.1% courses of cardiovascular pharmacological support were >3 days. Prolonged cardiovascular pharmacological support (>3 days) was independently associated with lower rates of survival without morbidity in very-low-birth-weight infants, compared with infants with shorter durations. Dopamine was the most commonly used cardiovascular agent. The cardiovascular pharmacological support rates varied from 1.9 to 65.8% among the participating NICUs. Conclusions: The rate of cardiovascular pharmacological support within the first postnatal week was high with prolonged durations in Chinese NICUs. Marked variation in cardiovascular support existed among participating NICUs. Cardiovascular pharmacological support during the early postnatal period, especially prolonged, may be associated with adverse neonatal outcomes. Clinical Trial Registration: The original trial was registered as "Reduction of Infection in Neonatal Intensive Care Units using the Evidence-based Practice for Improving Quality" (ID: NCT02600195) on clinicaltrials.gov. https://clinicaltrials.gov/ct2/show/NCT02600195?term=NCT02600195&draw=2&rank=1.

Project description:IntroductionRecent evidence suggests that choice of fluid used for resuscitation may influence mortality in critically ill patients.MethodsWe conducted a cross-sectional study in 391 intensive care units across 25 countries to describe the types of fluids administered during resuscitation episodes. We used generalized estimating equations to examine the association between patient, prescriber and geographic factors and the type of fluid administered (classified as crystalloid, colloid or blood products).ResultsDuring the 24-hour study period, 1,955 of 5,274 (37.1%) patients received resuscitation fluid during 4,488 resuscitation episodes. The main indications for administering crystalloid or colloid were impaired perfusion (1,526/3,419 (44.6%) of episodes), or to correct abnormal vital signs (1,189/3,419 (34.8%)). Overall, colloid was administered to more patients (1,234 (23.4%) versus 782 (14.8%)) and during more episodes (2,173 (48.4%) versus 1,468 (32.7%)) than crystalloid. After adjusting for patient and prescriber characteristics, practice varied significantly between countries with country being a strong independent determinant of the type of fluid prescribed. Compared to Canada where crystalloid, colloid and blood products were administered in 35.5%, 40.6% and 28.3% of resuscitation episodes respectively, odds ratios for the prescription of crystalloid in China, Great Britain and New Zealand were 0.46 (95% confidence interval (CI) 0.30 to 0.69), 0.18 (0.10 to 0.32) and 3.43 (1.71 to 6.84) respectively; odds ratios for the prescription of colloid in China, Great Britain and New Zealand were 1.72 (1.20 to 2.47), 4.72 (2.99 to 7.44) and 0.39 (0.21 to 0.74) respectively. In contrast, choice of fluid was not influenced by measures of illness severity (for example, Acute Physiology and Chronic Health Evaluation (APACHE) II score).ConclusionsAdministration of resuscitation fluid is a common intervention in intensive care units and choice of fluid varies markedly between countries. Although colloid solutions are more expensive and may possibly be harmful in some patients, they were administered to more patients and during more resuscitation episodes than crystalloids were.

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Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.

Publications

Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.

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