Publications by authors named "L Wetherill"
Background: Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this through systematic dysmorphology assessment in CHD patients with standardized genetic testing in primarily pediatric patients with CHD.
Methods: Dysmorphology evaluations preceding genetic testing results allowed us to test for associations between dysmorphic status and genetic diagnoses while adjusting for extracardiac anomalies (ECAs).
Previous studies have examined the perspectives of healthcare providers regarding their role in the transition process of pediatric patients with neurodevelopmental conditions (NDCs), but the perspective of a genetic counselor has yet to be considered. This study explored genetic counselors' current practices and attitudes regarding care for pediatric patients with NDCs as they transition into adult care. Genetic counselors (GCs) currently seeing patients with NDCs were recruited through a cross-sectional online survey.
View Article and Find Full Text PDFExploring Genetic Counselors' Experiences with Indigenous Patient Populations.
J Racial Ethn Health Disparities
October 2024
Article Synopsis
- The study looked at how prepared genetic counselors are to help Indigenous patients in the U.S. and Canada, focusing on their unique needs.
- Many counselors felt less confident when working with Indigenous patients compared to others, especially with cultural issues.
- The results showed that more experience and training with Indigenous populations helped counselors feel more capable, highlighting the need for better education and training about Indigenous health.
One of the roles of a genetic counselor, when returning genetic test results for Parkinson's disease (PD), is to provide emotional support to the patient. However, whether or not these needs are being met in the genetic counseling setting is unknown. In this cross-sectional qualitative study, semi-structured interviews with 15 PD research participants were conducted to evaluate their emotional needs and expectations throughout the genetic counseling process.
View Article and Find Full Text PDFArticle Synopsis
- Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis due to its fibrotic tumor microenvironment, which inhibits immune cell infiltration, but higher natural killer (NK) cell presence is linked to better survival rates.
- Using imaging mass cytometry, researchers found active NK cells in the PDAC tumor microenvironment, interacting with tumor cells while their infiltration was limited by fibrosis.
- The study identifies key interactions between NK cells and extracellular matrix components, suggesting that targeting these interactions could enhance NK cell invasion in PDAC, potentially improving treatment outcomes.