Publications by authors named "G Hollway"
Advanced genomic technologies such as whole exome or whole genome sequencing have improved diagnoses and disease outcomes for individuals with genetic diseases. Yet, variants of unknown significance (VUS) require rigorous validation to establish disease causality or modification, or to exclude them from further analysis. Here, we describe a young individual of Polynesian ancestry who in the first 13 mo of life presented with SARS-CoV-2 pneumonia, severe enterovirus meningitis and adenovirus gastroenteritis, and severe adverse reaction to MMR vaccination.
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- Many families show unusual cancer clusters but don't fit into known hereditary cancer syndrome categories; they may still carry harmful genetic variants that increase cancer risk.* -
- In a study of 195 participants with suspected hereditary cancer syndromes, whole-genome sequencing identified pathogenic variants in 5.1% and additional variants with potential health implications in 9.7% of participants.* -
- The study suggests that using whole-genome sequencing up front is more cost-effective than traditional testing, but broader implementation will hinge on funding decisions and financial perspectives of healthcare payers.*
Article Synopsis
- Molecular diagnosis of pediatric inborn errors of immunity (IEI) improves treatment options and outcomes through timely access to targeted therapies, but there are growing waitlists for genomic testing in Australia.
- To combat delays, the Queensland Paediatric Immunology and Allergy Service developed a model of care that includes genetic counselors and collaborative team meetings to facilitate point-of-care genomic testing, resulting in a significant rate of confirmed diagnoses.
- The program showed feasibility and positive impact: 45% of patients from regional areas benefited, treatment plans were altered for all positively diagnosed children, parents felt informed about testing implications, and the model was well-received by healthcare providers.