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Collaborative Research: An Advanced Practice Nurse's Experience in Genome Research and Treatment.

In September 2015, a 16-month-old child was brought to an emergencydepartment inMinneapolis,Minnesota. Cyanotic on presentation, clinicians soon diagnosed severe acidosis, thought to be due to ingestion of a toxic substance. On further investigation, Leonard CarletonMcMahon received a diagnosis of cerebrovascular accident that is due to a rare genetic disorder named methylmalonic academia (MMA). Methylmalonic academia is a lifethreatening conditionwhen not identified early in life, such as with newborn screening procedures. Unfortunately, many states do not screen for MMA, or other genetic disorders, in neonates. Because neonatal screening procedures in the United States vary widely from state to state, our most vulnerable population is placed at unnecessary risk of morbidity and mortality. By focusing on cost effectiveness instead of diagnostic accuracy, state-based standards for neonatal screening may compromise the health of infants. National standards for neonatal screening procedures are needed to prevent unnecessary death and disability for infants, and researchers across the United States are increasingly joining forces in collaborative teams designed to decrease morbidity and mortality in infants due to missed diagnoses for genetic disorders. These efforts offer opportunities for advanced practice nurses (APNs) to play a role in reducing unnecessary deaths in this vulnerable group of patients by using their skills to guide research agendas, improve screening accuracy, develop novel therapies, and publish healthcare guidelines. APPLYING CLINICAL KNOWLEDGE IN BASIC RESEARCH Beth Barnby, DNP, ACNP-BC, FNP-BC, has a deep interest in improving the health of neonates by implementing screening procedures for rare, life-threatening genetic disorders. Barnby began her work with a deep review of the etiologies for sudden unexpected infant death (SUID), which is a term that is used to describe explained or unexplained death that occurs in infancy. Sudden infant death syndrome (SIDS) is a subcategory of SUID. Sudden infant death syndrome is a ‘‘default diagnosis’’ assigned when a cause of death fails to be identified by postmortem death investigation, using scene investigation, review of the patient’s clinical history, andmetabolic autopsy (a postmortemblood analysis performed to rule out genetic disorders called inborn errors of metabolism [IEM]). Estimates from theCenters forDisease Control and Prevention suggest that 5% of SIDS deaths are attributable to IEMs, but other researchers believe that this estimate may be low. It was the realization that infant deaths might be preventable that launched Barnby’s collaborative research efforts. Barnby works closely with other researchers at the University of Alabama in Huntsville (UAH), concentrating on the identification of the pathophysiological mechanismof cognitive changes seen in childrenwith hereditary tyrosinemia type 1 (HT1). She began her role as a faculty member for the UAH College of Nursing in 2009 as a graduate teaching assistant. After completing her doctoral studies in 2012, Barnby and other faculty from theUAHCollege of Science established a collaborative research team, using funds awarded by internal system grants, to focus onmethods of improving shortand long-term outcomes for children with HT1. Barnby, who has been able to expand the efforts of her research team to include students from multiple disciplines in focused research opportunities, noted ‘‘none of these collaborations would have been possible without the support of administration at UAH.’’ Author Affiliations: Clinical Associate Professor (Dr Barnby) and Associate Professor (Dr Alexander), College of Nursing, University of Alabama in Huntsville. The authors report no conflicts of interest. Correspondence: Elizabeth Barnby, DNP, FNP-BC, ACNP-BC, College of Nursing, University of Alabama, 220 Dove Hollow Dr, Huntsville, AL 35759 (barnbye@uah.edu). DOI: 10.1097/NUR.0000000000000303