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IntroductionComprehensive Cancer Control (CCC) plans address cancer burden at the state level through consolidation of activities and collaboration among stakeholders. Public health genomics strategies are increasingly important in prevention and treatment of cancer. The objectives of this study were to assess the extent to which CCC plans have incorporated genomics-related terms since 2005, determine which of the 3 core public health functions were fulfilled by genomics components, and identify facilitators of and barriers to integration of genomics.MethodsWe reviewed 50 CCC plans in 2010 to assess use of 22 genomics-related terms. Among plans that used the term genetics or genomics, we examined the plan for inclusion of genomics-related goals, objectives, or strategies and documented the 3 core public health functions (assessment, policy development, and assurance) fulfilled by them. We surveyed plan coordinators about factors affecting incorporation of genomic strategies into plans.ResultsForty-seven of 50 (94%) plans included at least 1 genomics-related term. Thirty-two of 50 (64%) plans included at least 1 genomics-related goal, objective, or strategy, most encompassing the core function of assurance; 6 state plans encompassed all 3 core functions. Plan coordinators indicated that genomics is a low priority in state public health; barriers to incorporation included lack of sufficient staff and funding. ConclusionIncorporation of genomic terms into state CCC plans increased from 60% in 2005 to 94% in 2010, but according to plan coordinators, genomics has not grown as a priority. Identification of partnerships and resources may help increase the priority, encourage incorporation, and guide the eventual success of public health genomics in state plans. Strong partnerships with state public health departments, health care providers, and the research community are useful for integration.

Pulmonary hypertension (pHTN) is a severe, life‐threatening disease, which can be idiopathic or associated with an underlying syndrome or genetic diagnosis. Here we discuss a patient who presented with severe pHTN and was later found to be compound heterozygous for pathogenic variants in the NFU1 gene causing multiple mitochondrial dysfunctions syndrome 1 (MMDS1). Review of autopsy slides from an older sibling revealed the same diagnosis along with pulmonary findings consistent with a developmental lung disorder. In particular, these postmortem, autopsy findings have not been described previously in humans with this mitochondrial syndrome and suggest a possible developmental basis for the severe pHTN seen in this disease. Given the rarity of patients reported with MMDS1, we review the current state of knowledge of this disease and our novel management strategies for pHTN and MMDS1‐associated complications in this population.

A previously healthy 9-year-old immigrant girl from Mexico was evaluated in the emergency department (ED) with one week of fatigue, fevers, rhinorrhea, and cough. She initially presented to her primary pediatrician, where a complete blood count revealed neutropenia, prompting referral to the ED. In the ED, she was found to be influenza A–positive. Because of dehydration, she received intravenous fluids and was admitted to the pediatric hospital medicine service. After 2 days, influenza symptoms improved, and oral intake increased. However, she was noted to have decreased bilateral lower-extremity strength, absent Achilles reflexes, decreased lower-extremity sensation and proprioception, a positive result on the Romberg sign, and abnormal heel-to-shin testing results. These findings prompted an urgent neurology consultation. After extensive imaging, laboratory evaluation, and further consultations, a diagnosis was established.

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