The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan’s Project Baby Deer (PBD) is a multi-center collaborative effort that sought to break down barriers to access by offering rWGS to critically ill neonatal and pediatric inpatients in Michigan. The clinical champion team used a standardized approach with inclusion and exclusion criteria, shared learning, and quality improvement evaluation of the project’s impact on the clinical outcomes and economics of inpatient rWGS. Hospitals, including those without on-site geneticists or genetic counselors, noted positive clinical impacts, accelerating time to definitive treatment for project patients. Between 95–214 hospital days were avoided, net savings of $4155 per patient, and family experience of care was improved. The project spurred policy advancement when Michigan became the first state in the United States to have a Medicaid policy with carve-out payment to hospitals for rWGS testing. This state project demonstrates how front-line clinician champions can directly improve access to new technology for pediatric patients and serves as a roadmap for expanding clinical implementation of evidence-based precision medicine technologies.

Background: Returning to work and lack of support for expressing breast milk (pumping) at work is often cited as a reason that mothers discontinue breastfeeding, particularly among female physicians. It is unclear how these perceived difficulties affect resident mothers and how resident teams perceive coresidents who choose to pump at work. The goal of this study was to identify differences in perception of resident mothers and their coresidents about breastfeeding residents pumping. Materials and Methods: An online survey in 2017 was sent to 413 residents in Pediatrics, Internal Medicine, Family Medicine, and Anesthesia at the University of Michigan Health System. Results: A total of 82 residents completed the survey (20% response rate). Resident mothers (15% of respondents self-identified as a mother) were asked specific questions regarding their experiences with breastfeeding. Almost all mothers (92%) encountered difficulty in breastfeeding after returning to work. The majority of mothers reported that their mood was affected by these difficulties (85%). The most common challenge that breastfeeding residents encountered was not enough time to pump. The majority of all residents surveyed (74%) have worked with a breastfeeding resident. Forty percent of breastfeeding residents felt that their pumping adversely affected the team, whereas only 10% of coresidents felt the same. Conclusions: Breastfeeding residents encountered significant difficulties that affected their well-being when breastfeeding while returning to work. They also felt that their pumping can be detrimental to their job. However, their coresidents felt that pumping had no major setbacks to team efficiency or patient care and did not create additional work.

The increasing availability of clinically approved genetic tests for kidney disease has spurred the growth in the use of these tests in kidney transplant practice. Neither the testing options nor the patient population where this should be deployed has been defined, and its value in kidney transplant evaluation has not been demonstrated. Transplant providers may not always be aware of the limitations of genetic testing and may need guidance on comprehending test results and providing counsel, as many centers do not have easy access to a renal genetic counselor or a clinical geneticist. In this practice resource, a working group of nephrologists, geneticists, and a genetic counselor provide a pragmatic, tailored approach to genetic testing, advocating for its use only where the genetic diagnosis or its exclusion can impact the choices available for transplantation or posttransplant management or the workup of living donor candidates at increased risk for heritable disease.

Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and reflex analytes (either biochemical or molecular testing) as well as collection of short- and long-term follow-up elements. The goal of this study is to evaluate practices of state health departments in regards to screening methods and follow-up data collected. We conducted online surveys and phone questionnaires to determine each U.S. state’s practices for screening and follow-up of positive newborn screens. We report the first snapshot of practices for NBS for the LSDs included on the RUSP. All 50 U.S. states responded to our survey. The majority of U.S. states are not currently screening for Pompe disease and MPSI as of March 2020, but this number will increase to 38 states in the coming 1–3 years based on survey results. Our survey identifies data elements used by state health departments for short-and long-term follow-up that could serve as the basis of common elements for larger, public health-based analyses of the benefits and efficacy of screening for Pompe disease and MPSI.