Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis.

This case report chronicles the diagnostic odyssey and resolution of a 27-year-old female with a complex neurodevelopmental disorder (NDD) using Whole Exome Sequencing (WES). The patient presented to a precision medicine clinic with multiple diagnoses including intellectual disability, autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), tics, seizures, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Although this patient previously had chromosomal microarray and several single-gene tests, the underlying cause of this patient's symptoms remained elusive.

From Vaccines to Vitality: The Progression of a Community-Academic Collaboration.

In this practice note, we document the progression of the Community Vaccine Collaborative (CVC), on which we first published in 2021. The CVC convened to address deep COVID-19-related disparities affecting the Black, Latine, immigrant/refugee, and lesbian, gay, bisexual, transgender, queer, (questioning), intersex, asexual, and (agender; LGBTQIA+) communities. The COVID-19 pandemic is rooted in centuries of oppression and marginalization leading to inequities and required dedicated focus to support marginalized communities in times of crisis.

Documenting Pharmacogenomic Test Results in Electronic Health Records: Practical Considerations for Primary Care Teams.

With increasing patient interest in and access to pharmacogenomic testing, clinicians practicing in primary care are more likely than ever to encounter a patient seeking or presenting with pharmacogenomic test results. Gene-based prescribing recommendations are available to healthcare providers through Food and Drug Administration-approved drug labeling and Clinical Pharmacogenetics Implementation Consortium guidelines. Given the lifelong utility of pharmacogenomic test results to optimize pharmacotherapy for commonly prescribed medications, appropriate documentation of these results in a patient's electronic health record (EHR) is essential.

A Community Partnered Approach to Promoting COVID-19 Vaccine Equity.

The coronavirus disease 2019 (COVID-19) pandemic has disproportionately affected communities of color. To dismantle these disparities, it is critical to promote COVID-19 vaccine equity, both through increasing vaccine access and addressing vaccine mistrust. This article describes a community-academic collaboration (the Community Vaccine Collaborative [CVC]), whose mission is to ensure COVID-19 vaccine equity among marginalized communities.

Participatory Genomic Testing Can Effectively Disseminate Cardiovascular Pharmacogenomics Concepts within Federally Qualified Health Centers: A Feasibility Study.

Objective: We assessed feasibility of an educational program designed to enhance stakeholder knowledge and perceptions of pharmacogenomics at a federally qualified health center (FQHC).

Design: FQHCs have a rich history of providing care to the underserved, but often are not represented by studies evaluating cutting-edge concepts. We used a novel educational platform to provide participatory genomic testing and classroom education.

Knowledge and opinions regarding BRCA1 and BRCA2 genetic testing among primary care physicians.

BRCA1 and BRCA2 (BRCA1/2) testing is standard for individuals with personal and/or family history suggestive of hereditary breast and ovarian cancer syndrome. The indications for testing have been expanding. To accommodate the need, incorporation of cancer genetic services into the practice of non-genetic healthcare providers should be considered.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We performed mutation analysis and retrospective genotype-phenotype correlations in all eligible patients with AHC enrolled in the US AHC Foundation registry from 1997-2012.