Publications by authors named "J Mersch"
Purpose: A primary challenge in clinical genetics is accurate interpretation of identified variants and relaying the information to patients and providers. Inconsistencies around handling variant reclassifications and notifying patients, combined with the lack of prescriptive guidelines on re-evaluation, reanalysis, and return of variants, has created practice challenges. Although relevant empirical work has emerged, the scope and outcomes of this research have not been characterized.
View Article and Find Full Text PDFBackground: Approximately 30-40% of paragangliomas (PGLs) and pheochromocytomas (PCCs) harbor an underlying hereditary cause. Early identification of at-risk individuals is imperative given the early onset, aggressiveness of tumors, and other tumor/cancer risks associated with hereditary PGLs/PCCs. This study analyzes the clinical presentations and genetic histories of patients with PGL/PCC and/or hereditary risk to contribute to the expanding knowledge in this rare population.
View Article and Find Full Text PDFArticle Synopsis
- A randomized controlled trial was conducted with 201 bilingual patients from underserved populations to compare telephone and in-person genetic counseling models for cancer.* -
- Primary outcomes measured included genetics knowledge, visit satisfaction, and counseling completion rates, with no significant differences found between the two counseling methods.* -
- While telephone counseling led to a higher rate of informed choices about genetic testing (52.5% vs. 39.0%), it also resulted in lower completion rates for tests (74% vs. 100%), indicating that although it's comparable, further investigation is needed regarding these disparities.*
Purpose: Social support is a crucial protective factor against psychological concerns in patients with cancer. However, there is limited knowledge regarding the differential impacts of social support on cancer worries and depressive symptoms in patients undergoing genetic counseling for hereditary cancer. The current study utilized a high-volume database from a multi-site cancer genetics clinic to assess the impact of perceived social support on depressive symptoms and cancer worries among patients of different age groups (young versus older patients) and diagnosis status (diagnosed survivors versus undiagnosed).
View Article and Find Full Text PDFFunctional electrical stimulation (FES) aims to improve the gait pattern in cases of weak foot dorsiflexion (foot lifter weakness) and, therefore, increase the liveability of people suffering from chronic diseases of the central nervous system, e.g., multiple sclerosis.
View Article and Find Full Text PDF