Publications by authors named "M Wasserstein"
Purpose: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if the "screen-sharing" feature via Zoom to display visual aids during results disclosure session positively impacted parental experience and comprehension of their child's genomic results especially in underrepresented groups and those with limited English proficiency.
Methods: In the TeleKidSeq pilot study, 409 children with suspected genetic conditions underwent genome sequencing.
Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.
View Article and Find Full Text PDFArticle Synopsis
- The study highlights how underrepresentation in clinical genomics research diminishes the relevance of findings and benefits, particularly emphasizing the importance of diverse participant inclusion.
- Researchers implemented patient-centered, data-driven strategies, such as using relatable and flexible recruitment methods, to ensure a diverse sample of parents and children in a pediatric genome sequencing study.
- As a result, a high percentage of eligible participants agreed to enroll (93.5% acceptance) and the majority of those who enrolled completed the study, demonstrating the effectiveness of engaging with underrepresented communities.
There is increasing evidence of the clinical utility of genetic and genomic testing (GT); however, factors influencing personal utility of GT, especially in diverse, multilingual populations, remain unclear. We explored these factors in a diverse cohort of parents/guardians (participants) whose children received clinical GT through the NYCKidSeq program. A total of 847 participants completed surveys at baseline, post-results disclosure, and 6 months (6m) post-results.
View Article and Find Full Text PDFPurpose: To examine associations between Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and PedsQL Infant Scales with formal health care resource utilization (HCRU) and informal caregiver burden.
Methods: We studied a pediatric cohort of 837 patients (median age: 8.