Provision and availability of genomic medicine services in Level IV neonatal intensive care units.

PURPOSE: To describe variation in genomic medicine services across level IV neonatal intensive care units (NICUs) in the United States and Canada. METHODS: We developed and distributed a novel survey to the 43 level IV NICUs belonging to the Children's Hospitals Neonatal Consortium, requesting a single response per site from a clinician with knowledge of the provision of genomic medicine services. RESULTS: Overall response rate was 74% (32/43). Although chromosomal microarray and exome or genome sequencing (ES or GS) were universally available, access was restricted for 22% (7/32) and 81% (26/32) of centers, respectively. The most common restriction on ES or GS was requiring approval by a specialist (41%, 13/32). Rapid ES/GS was available in 69% of NICUs (22/32). Availability of same-day genetics consultative services was limited (41%, 13/32 sites), and pre- and post-test counseling practices varied widely. CONCLUSION: We observed large inter-center variation in genomic medicine services across level IV NICUs: most notably, access to rapid, comprehensive genetic testing in time frames relevant to critical care decision making was limited at many level IV Children's Hospitals Neonatal Consortium NICUs despite a significant burden of genetic disease. Further efforts are needed to improve access to neonatal genomic medicine services.

Discarding Information.

In this narrative essay, a neonatologist describes the importance of giving patients the respect and space to decide the value of medical information themselves.

Beyond the Question: Reexamining a Parent's Unusual Request.

Pediatricians sometimes think about medical ethics as the field of determining right and wrong in in answering difficult moral questions that occur at the bedside. But an emphasis on rapidly determining right and wrong when faced with ethical dilemmas can lead clinicians to miss important issues underlying both the question and their approach to answering it. We argue that ethical reflection is not merely a process of getting to the right answer but also a way to probe beyond the original question to better understand the stakeholders' perspectives and priorities. In this Ethics Rounds, we present the case of an infant born at 23 weeks' gestation who initially faced numerous complications of prematurity, but has progressed beyond acute critical illness. His father requests a transition to palliative care at a point this option would not typically be offered. The straightforward response to this father's request is "no." However, we reexamine the father's request from the perspective of a neonatologist, a clinical ethicist, and a conflict mediator. Why is the father making this request? Why do clinicians feel rushed to respond? The authors discuss how elements of surprise and implicit biases can push clinicians to hasty answers. We introduce tools used in clinical ethics consultation and conflict mediation that can facilitate alternative responses from the clinical team. Employing the "Ladder of Inference," ascertaining the "View from Everywhere," and differentiating positions from interests can help clinicians explore the context of ethical questions and lead to more fruitful resolutions.

Childhood outcomes following discharge from a referral bronchopulmonary dysplasia program.

OBJECTIVES: The primary objective of this study was to profile the childhood health, development, and health-related quality of life (HR QoL) for children with the most severe bronchopulmonary dysplasia (BPD), those discharged from a quaternary referral program. STUDY DESIGN: We collected cross-sectional data through telephone interviews with 282 families of children ages 18 months to 11 years who had been discharged from a BPD referral program. RESULTS: Respiratory morbidities were near universal, with 42% of children ever having required a tracheostomy and severity of these morbidities correlated with parent-reported health and QoL. Developmental morbidities were also marked: 97% required an individualized educational plan. While respiratory morbidities and overall health improved over time, developmental morbidities were increasingly prominent, resulting in lower quality of life. CONCLUSIONS: Among children referred to a quaternary BPD program, respiratory and developmental morbidities are on numerous counts more severe than any reported in the literature.

Ethical and Legal Issues Surrounding Genetic Testing in the NICU.

Clinicians practicing in a modern NICU are noticing an increase in the proportion of patients who undergo genetic testing as well as changes in the types of genetic testing patients receive. These trends are not surprising given the increasing recognition of the genetic causes of neonatal illness and recent advances in genetic technology. Yet, the expansion of genetic testing in the NICU also raises a number of ethical questions. In this article, we will review the ethical issues raised by genetic testing, with a focus on the practical implications for neonatologists. First, we outline the complexities of measuring benefit, or utility, for neonatal genetic testing. Next, we discuss potential harms such as inequity, unexpected findings, disability biases, and legal risks. Finally, we conclude with a discussion of ethical issues related to consent for genetic testing. Throughout this article, we highlight solutions to challenges toward the ultimate goal of minimizing harms and maximizing the substantial potential benefits of genetic medicine in the NICU.