Purpose: Exome sequencing (ES) is becoming increasingly important for diagnosing rare genetic disorders. Patients and clinicians face several barriers when attempting to obtain ES. This study is aimed to describe factors associated with a longer time interval between provider recommendation of testing and sample collection for ES.
Methods: A retrospective chart review was conducted for insurance-authorized, completed pediatric ES in which initial requests were reviewed by Stanford's Genetic Testing Optimization Service between November 2018 and December 2019. Regression analysis was used to determine the association between the geocoded median household income and 3 different time point intervals defined as time to test, insurance decision, and scheduling/consent.
Results: Of the 281 charts reviewed, 115 cases were included in the final cohort. The average time from provider preauthorization request to sample collection took 104.4 days, and income was negatively correlated with the length of the insurance decision interval.
Conclusion: Pediatric patients undergo a lengthy, uncertain process when attempting to obtain ES, some of which is associated with income. More research and clinician interventions are required to clarify specific socioeconomic factors that influence the ability to obtain timely ES and develop optimal protocols.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.gim.2022.06.006 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Knowledge and perception of HIV pre-exposure prophylaxis among healthcare workers.
AIDS Care
March 2025
Faculdade de Medicina, Universidade Federal de Mato Grosso do Sul, Campo Grande, Brazil.
In Brazil, pre-exposure prophylaxis (PrEP) is freely available to individuals at high risk of HIV infection. However, knowledge and perception of PrEP can act as barriers to its access and use. This study evaluated PrEP knowledge and perception among healthcare workers in the Unified Health System in a Brazilian capital.
View Article and Find Full Text PDFFactors associated with placement along the HIV prevention and care continuum among sexual minority men who use methamphetamine.
AIDS Care
March 2025
Center for Behavioral and Addiction Medicine, Department of Family Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Methamphetamine use among sexual minority men (SMM) has been associated with poor ART adherence, and reduced initiation and adherence to PrEP. From May 2021 to May 2023, 226 SMM were enrolled in , a culturally responsive smartphone application to reduce methamphetamine use and improve sexual health. Using a status-neutral approach, an ordinal variable reflected participants' placement on the HIV Prevention/Care Continuum, from HIV-positive, not taking ART, to HIV-negative, currently taking PrEP.
View Article and Find Full Text PDFType A Aortic Dissection Following Abdominal Solid Organ Transplantation: Population-Level Outcomes in the United States.
Clin Transplant
March 2025
Division of Cardiac Surgery, CardioVascular Center, Tufts Medical Center, Boston, Massachusetts, USA.
Background: This study aims to analyze the patient characteristics, clinical outcomes, and contemporary trends concerning type A aortic dissection (TAAD) in previous recipients of abdominal solid organ transplantation (ASOT) in the United States.
Methods: The National Inpatient Sample was queried to identify all patients aged ≥18 with TAAD and a history of ASOT (TAAD-ASOT) between 2002 and 2015Q3 using ICD-9 diagnosis and procedure codes. Baseline characteristics and in-hospital outcomes were compared between TAAD-ASOT patients and TAAD patients without a history of ASOT (TAAD-non-ASOT).
The transcription factor GmbZIP131 enhances soybean salt tolerance by regulating flavonoid biosynthesis.
Plant Physiol
March 2025
College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou, China.
Detoxifying reactive oxygen species (ROS) that accumulate under saline conditions is crucial for plant salt tolerance. The Salt Overly Sensitive (SOS) pathway functions upstream, while flavonoids act downstream, in ROS scavenging under salt stress. However, the potential crosstalk between the SOS pathway and flavonoids in regulating salt stress responses and the associated mechanisms remain largely unexplored.
View Article and Find Full Text PDFGenetic factors contribute to the development of metabolic syndrome and subsequent arterial hypertension (AH). The study of the T786C polymorphism of the endothelial nitric oxide synthase (eNOS) gene in arterial hypertension is important as its correlation with adipokine imbalance is a novelty area to find associations between hypertension development, obesity, and heredity. The purpose of the current study was to investigate serum adipokines levels, depending on the T786C polymorphism of the eNOS in patients with arterial hypertension.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!