Alison Dalton Archibald

Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening

Claudine M. Kraan, Amanda Springer, Janet C. Long, Jeffrey Braithwaite et autres

Reproductive genetic carrier screening (RGCS) is increasingly available and publicly funded in some jurisdictions. There is a pressing need for user-centric resources to support decision-making. We conducted a scoping review using the Joanna Briggs Institute framework with the aim of mapping studies …

au (code pays fourni par la source)

Australian parents’ perspectives on extended genomic screening: what information to return and when?

Fiona Lynch, Christopher Gyngell, Stephanie Best, Clara Gaff et autres

Genomic newborn screening (gNBS) has the potential to generate information that remains relevant across the lifespan, yet little is known about how families who have directly experienced gNBS, understand its long-term role and value. This study analysed the results of eight focus …

au, sg, gb (code pays fourni par la source)

Psychosocial outcomes of reproductive genetic carrier screening up to five years post-result

Erin Tutty, Alison Dalton Archibald, Belinda McClaren, Cameron Patrick et autres

The long-term psychosocial outcomes of reproductive genetic carrier screening (RGCS) have yet to be adequately quantified. We examined long-term psychosocial outcomes of RGCS within the Australian Reproductive Genetic Carrier Screening Project ('Mackenzie's Mission'), where 9107 reproductive couples had RGCS for ~1300 genes …

au (code pays fourni par la source)

Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol

Janet C. Long, Alison Dalton Archibald, Klay Lamprell, Belinda McClaren et autres

INTRODUCTION: This project will establish a nationally consistent and ethically defensible approach to embed genomic testing in Australian primary care. Many non-genetic health professionals (eg, general practitioners (GPs) and other specialists) have limited experience with such testing. Current tests-both subsidised and consumer-paid-target …

au (code pays fourni par la source)

“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition

Giorgina Maxwell, Erin Tutty, Belinda McClaren, Alison Dalton Archibald

Reproductive genetic carrier screening (RGCS) provides people with information about the likelihood of having children with serious inherited genetic conditions. The perspectives of people who have experience with a genetic condition are important in understanding the acceptability of RGCS. Through the Australian …

au (code pays fourni par la source)

Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study

Erin Tutty, Anaita Kanga-Parabia, Nathasha Kugenthiran, Jade Caruana et autres

Genomic newborn screening (gNBS) provides the potential to offer significant health benefits. However, more evidence, including psychosocial impacts on parents, is needed before gNBS is ready for population-level implementation. The aim of this qualitative study was to explore parental experiences of receiving …

au (code pays fourni par la source)

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study

Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga-Parabia et autres

Digital platforms hold promise to scale implementation of population screening. We tailored the Genetics Adviser platform to provide education, decision support, consent, and result return in a genomic newborn screening (gNBS) study, BabyScreen + . Participants were surveyed and interviewed on the …

au, ca (code pays fourni par la source)

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

Sebastian Lunke, Lilian Downie, Jade Caruana, Nathasha Kugenthiran et autres

Incorporating genomic sequencing into newborn screening will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The prospective BabyScreen+ cohort study screened 1,000 newborns from the state of Victoria, Australia for variants in 605 genes associated with …

au, ca (code pays fourni par la source)

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study

Lilian Downie, Jade Caruana, Nathasha Kugenthiran, Anaita Kanga‐Parabia et autres

au, ca, ie (code pays fourni par la source)

Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation

Michael P. Mackley, Pankaj B. Agrawal, Sara Ali, Alison Dalton Archibald et autres

ca, us, au, gb (code pays fourni par la source)

Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy

Nicola Jane Flowers, Katrina L. Scarff, Olivia Giouzeppos, Alison Dalton Archibald et autres

BACKGROUND: Confined placental mosaicism can cause false-positive prenatal cell-free DNA (cfDNA) screening results, thereby reducing the positive predictive value (PPV) of the test. We sought to investigate how PPVs for the common fetal trisomies can be refined based on the presence or …

au (code pays fourni par la source)

Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening

Erin Tutty, Belinda McClaren, Sharon Mantik Lewis, Kristine K Barlow-Stewart et autres

The responsible implementation of reproductive genetic carrier screening (RGCS) involves understanding the long-term psychosocial and reproductive impacts of results. This mixed-methods study examined these impacts within 'Mackenzie's Mission', an Australia-wide study that offered couple-based RGCS for >1280 genes to 10,000 reproductive couples. …

au (code pays fourni par la source)