Improving access to exome sequencing in a medically underserved population through the Texome Project.

Purpose: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing.

Methods: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project.

Exploring factors related to clinically advanced fibrosis in patients with nonalcoholic fatty liver disease or nonalcoholic steatohepatitis.

Objectives: To describe the clinical profile of nonalcoholic fatty liver disease (NAFLD) or nonalcoholic steatohepatitis (NASH) patients in a Texas integrated delivery network (IDN) and elucidate the local relationship between patient factors and the risk of advanced fibrosis.

Methods: This observational, retrospective, cross-sectional study utilized existing data from the electronic health record at a large Texas IDN. Data was collected during the study period from 1 January 2019, to 1 March 2023.

Successful endovascular treatment of acute mesenteric and hepatic ischemia in patient with celiomesenteric trunk occlusion.

Acute occlusion of celiomesenteric trunk variants such as a replaced common hepatic artery origin from a superior mesenteric artery can be catastrophic and requires immediate attention to reverse simultaneous mesenteric and hepatic ischemia and prevent death. We report the case of a 73-year-old woman with acute occlusion of her celiomesenteric trunk and proximal superior mesenteric artery who underwent successful endovascular repair with stent graft via brachial access. In the present case report, we describe a surgically relevant classification system of celiomesenteric trunk variants, highlight the feasibility of endovascular intervention in this uncommon scenario, and describe our technique.

Impact of specialty pharmacy collaboration with rheumatology clinics to improve the achievement of treat-to-target goals in patients with rheumatoid arthritis: a pilot study.

In rheumatoid arthritis, the use of Routine Assessment of Patient Index Data 3 (RAPID3) assessments to meet treat-to-target goals is endorsed by the 2021 American College of Rheumatology guidelines. In November 2020, the Baylor Scott & White specialty pharmacy implemented a new service that included more frequent collection of RAPID3 scores and standardized provider communication for patients co-managed by a Baylor Scott & White rheumatology clinic. The objective was to evaluate the impact of this new service on rheumatoid arthritis disease activity.

Perceptions of motivational interviewing in genetic counseling practice and training.

Motivational interviewing (MI) is a counseling approach that allows a provider to engage in a dialog with patients to evoke motivation for health behavior change or decision-making. MI is a relatively recent addition to the curricula of genetic counseling programs, and recent research has demonstrated its utility in genetic counseling practice. However, the perspectives of genetic counselors trained in MI have yet to be studied with the intent of illuminating how it is applied in practice or what should be emphasized in training.