Publications by authors named "Trudie Harris"
Article Synopsis
- Diagnostic genomic sequencing is becoming essential in nephrology, with efforts to enhance its national implementation to benefit patient outcomes.
- A national study established 20 kidney genetics clinics across Australia from 2013 to 2022, offering genomic testing for patients with suspected monogenic kidney diseases and facilitating the collection of data on diagnostic experiences.
- The initiative successfully integrated a multidisciplinary approach to kidney genetics, optimizing care for patients while adapting to ongoing technological advancements and preparing for broader healthcare funding for genomic testing.
The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients.
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- About 25% of patients with unexplained kidney failure have a genetic cause, specifically related to monogenic disorders.
- A study explored the effectiveness of whole genome sequencing (WGS) combined with broad gene panel analysis in diagnosing these cases, finding it to be a viable method for identifying genetic mutations.
- Among 100 participants aged ≤50 with stage 5 chronic kidney disease, a genetic diagnosis was reached in 25%, with a higher likelihood of positive results in those with a family history of chronic kidney disease.