Disparities in Genetic Testing for Neurologic Disorders

Neurology · 2024 · 23 citations

• Medicine
• Demography
• Gerontology

BACKGROUND AND OBJECTIVES: Genetic testing is now the standard of care for many neurologic conditions. Health care disparities are unfortunately widespread in the US health care system, but disparities in the utilization of genetic testing for neurologic conditions have not been studied. We tested the hypothesis that access to and results of genetic testing vary according to race, ethnicity, sex, socioeconomic status, and insurance status for adults with neurologic conditions. METHODS: We analyzed retrospective data from patients who underwent genetic evaluation and testing through our institution's neurogenetics program. We tested for differences between demographic groups in 3 steps of a genetic evaluation pathway: (1) attending a neurogenetic evaluation, (2) completing genetic testing, and (3) receiving a diagnostic result. We compared patients on this genetic evaluation pathway with the population of all neurology outpatients at our institution, using univariate and multivariable logistic regression analyses. RESULTS: < 0.001). Among patients who underwent evaluation, there were no disparities in the likelihood of completing genetic testing, nor in the likelihood of a diagnostic result after adjusting for age. Analyses restricted to specific indications for genetic testing supported these findings. DISCUSSION: We observed unequal utilization of our clinical neurogenetics program for patients from marginalized and minoritized demographic groups, especially Black patients. Among patients who do undergo evaluation, all groups benefit similarly from genetic testing when it is indicated. Understanding and removing barriers to accessing genetic testing will be essential to health care equity and optimal care for all patients with neurologic disorders.

Cognitive reserve in ALS: the role of occupational skills and requirements

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 2024 · 6 citations

• Physical medicine and rehabilitation
• Psychology
• Neuroscience

OBJECTIVE: Amyotrophic Lateral Sclerosis (ALS) is a heterogeneous neurodegenerative condition featuring variable degrees of motor and cognitive impairment. We assessed the impact of specific, empirically derived occupational skills and requirements on cognitive and motor functioning in ALS. METHODS: Individuals with ALS (n = 150) were recruited from the University of Pennsylvania's Comprehensive ALS Clinic. The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) measured cognition, and the Penn Upper Motor Neuron (PUMNS) and ALS Functional Rating Scales (ALSFRS-R) measured motor symptoms. We derived 17 factors representing distinct occupational skills and requirements from the Occupational Information Network (O*NET), which were related to cognitive and motor scores using multiple linear regression. RESULTS: < .05) were associated with greater motor dysfunction on the PUMNS. CONCLUSIONS: Occupational histories involving more cognitively complex skills and activities were related to preserved cognitive functioning in ALS consistent with the cognitive reserve hypothesis, while jobs with greater exposure to environmental hazards and technical demands were linked to poorer cognitive functioning. Jobs involving more repetitive movements were associated with worse motor functioning, possibly due to overuse. Occupational history provides insight into protective and risk factors for variable degrees of cognitive and motor dysfunction in ALS.

Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts

Journal of Neurology · 2023 · 18 citations

• Medicine
• Intensive care medicine
• Bioinformatics

Telemonitoring for Home-assisted Ventilation: A Narrative Review

Annals of the American Thoracic Society · 2021 · 34 citations

• Medicine
• Intensive care medicine

The recent advent of remote ventilator telemonitoring has the potential to revolutionize home-assisted ventilation care in the United States and elsewhere. Home ventilation machines (i.e., respiratory assist devices and portable ventilators) can now wirelessly transmit usage and performance data to cloud-based web servers for remote access by participating clinicians. In this Focused Review, we provide an update on available technology, suggest practical applications for clinical care and research, and review supporting literature. Remote monitoring permits early data review, refinement of device settings to optimize ventilatory function, and troubleshooting if a new problem arises after initial setup. Data from home spirometry and noninvasively measured blood gas tensions can complement ventilator data to reflect physiological response. Acknowledging a paucity of published outcome studies, remote telemonitoring may be a cost-effective strategy to reduce emergency room visits, urgent clinic appointments, and hospitalizations. Ongoing clinical trials in Europe aim to expand on the benefit of this rapidly evolving technology. However, several barriers may hinder widespread implementation, especially in the United States. Clinicians must familiarize themselves with each ventilator manufacturer's proprietary software to safely leverage this technology for improving care. Legal and ethical considerations threaten clinician interest. Medical insurance payers must adapt a reimbursement scheme to incentivize clinicians and durable medical equipment companies to perform this time-consuming service. Cohort-level ventilator data will facilitate multicenter clinical trials focused on improving the respiratory care of this vulnerable population.

Noninvasive Ventilation Use Is Associated with Better Survival in Amyotrophic Lateral Sclerosis

Annals of the American Thoracic Society · 2020 · 68 citations

• Medicine
• Internal medicine

NIV use was associated with significantly better survival in ALS after matching and adjusting for confounders. Increasing duration of daily NIV use was associated with longer survival. Randomized clinical trials should be performed to identify ideal thresholds for improving survival and optimizing adherence in ALS.