Publications by authors named "L C Mollison"
Purpose: There is a critical need for genomic medicine research that reflects and benefits socioeconomically and ancestrally diverse populations. However, disparities in research populations persist, highlighting that traditional study designs and materials may be insufficient or inaccessible to all groups. New approaches can be gained through collaborations with patient/community stakeholders.
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- Exome sequencing (ES) may help reduce the lengthy process of diagnosing genetic disorders in children, and a study called NCGENES 2 is exploring its effectiveness as a clinical tool.
- Participants in this study, involving pediatric patients under 16 with suspected genetic issues, are randomly assigned to different intervention groups, including educational pre-visit preparation and offering ES.
- The study focuses on improving access for underrepresented populations and measures outcomes through various surveys and clinical data collection after clinic visits.
Background: Newborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of precision medicine, genomic sequencing has been introduced to this area with the hopes of detecting variants related to a vastly expanded number of conditions. Though implementation of genomic sequencing for newborn screening in public health and clinical settings is limited, commercial laboratories have begun to offer genomic screening panels for neonates.
View Article and Find Full Text PDFMaximizing the utility and equity of genomic sequencing integration in clinical care requires engaging patients, their families, and communities. The NCGENES 2 study explores the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. A Community Consult Team (CCT) of diverse parents and advocates for children with genetic and/or neurodevelopmental conditions was formed.
View Article and Find Full Text PDFPurpose: Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many individuals with suspected genetic disorders, but also yields negative or uncertain results for the majority. This study examines how parents of a child with an undiagnosed condition attribute personal utility to all types of ES results.
Methods: Return of 31 exome sequencing results was observed during clinic sessions, followed by semistructured interviews with parents one month later.