Publications by authors named "B H Bennetts"
Article Synopsis
- - Newborn screening (NBS) has significantly advanced public health, particularly with innovations like tandem mass spectrometry, and is expected to further evolve with genomic testing.
- - While NBS typically involves multiple low-cost confirmation tests, there's concern about the feasibility of repeating expensive genetic tests like whole-genome sequencing for follow-up.
- - The study explores how to transition NBS data into diagnostic-grade data using single-nucleotide variants (SNVs), aiming to enhance rapid diagnosis and reduce family stress when genetic issues are suspected in newborns.
Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.
Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.
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.
View Article and Find Full Text PDFAim: Recent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non-genetics health-care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue.
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