Publications by authors named "S F Suchy"
Article Synopsis
- The ongoing GUARDIAN study aims to evaluate the feasibility and acceptability of genome sequencing as an addition to traditional newborn screening across diverse racial and ethnic groups in New York City.
- As of the interim analysis covering 4,000 newborns, 72% of approached families consented to participate, reflecting a representative sample of various racial and ethnic demographics.
- The study primarily assessed the screen-positive rate, enrollment rate, and successful sequencing completion, with a large majority of families opting to screen for both early-onset genetic conditions and additional neurodevelopmental disorders.
Purpose: Research is underway worldwide to investigate the feasibility, acceptability, and utility of sequencing-based newborn screening. Different methods have been used to select gene-condition pairs for screening, leading to highly inconsistent gene lists across studies.
Methods: Early Check developed and utilized actionability-based frameworks for evaluating gene-condition pairs for inclusion in newborn panels (panel 1-high actionability, panel 2-possible actionability).
Viruses can infect the brain in individuals with and without HIV-infection: however, the brain virome is poorly characterized. Metabolic alterations have been identified which predispose people to substance use disorder (SUD), but whether these could be triggered by viral infection of the brain is unknown. We used a target-enrichment, deep sequencing platform and bioinformatic pipeline named "ViroFind", for the unbiased characterization of DNA and RNA viruses in brain samples obtained from the National Neuro-AIDS Tissue Consortium.
View Article and Find Full Text PDFPeroxisomal disorders are heterogeneous in nature, with phenotypic overlap that is indistinguishable without molecular testing. Newborn screening and gene sequencing for a panel of genes implicated in peroxisomal diseases are critical tools for the early and accurate detection of these disorders. It is therefore essential to evaluate the clinical validity of the genes included in sequencing panels for peroxisomal disorders.
View Article and Find Full Text PDFBackground: Medicare-subsidised Team Care Arrangements (TCAs) support Australian general practitioners to implement shared care between collaborating health professionals for patients with chronic medical conditions and complex needs. We assessed the prevalence of TCAs, factors associated with TCA uptake and visits to TCA-subsidised allied health practitioners, for adults newly diagnosed with cancer in New South Wales, Australia.
Methods: We carried out a retrospective individual patient data linkage study with 13 951 45 and Up Study participants diagnosed with incident cancer during 2006-16.