Publications by authors named "A M Slavotinek"
Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Article Synopsis
- - Coloboma is a rare congenital condition where part of the eye's tissue is missing, potentially leading to visual impairments; this study analyzed data from the Texas Birth Defects Registry spanning 1999 to 2014 to better understand its prevalence.
- - The research identified 1,587 coloboma cases, noting that about 58.8% were nonsyndromic, and highlighted key factors affecting prevalence, such as maternal education, race/ethnicity, plurality of births, and maternal diabetes.
- - The findings suggest a rising trend in coloboma cases over the years and could help target screening efforts for at-risk populations, potentially improving outcomes for future children.
An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.
View Article and Find Full Text PDFObjective: Occurring once in every 2000 live births, craniosynostosis (CS) is the most frequent cranial birth defect. Although the genetic etiologies of syndromic CS cases are well defined, the genetic cause of most nonsyndromic cases remains unknown.
Methods: The authors analyzed exome or RNA sequencing data from 876 children with nonsyndromic CS, including 291 case-parent trios and 585 additional probands.
Purpose: Research that includes diverse patient populations is necessary to optimize implementation of telehealth.
Methods: As part of a Clinical Sequencing Evidence-Generating Research Consortium cross-site study, we assessed satisfaction with mode of return of results (RoR) delivery across a diverse sample of participants receiving genetic testing results in person vs telemedicine (TM).
Results: Ninety-eight percent of participants were satisfied with their mode of results delivery.