ORCID Profile
0000-0002-2128-0828
Current Organisations
Murdoch Children's Research Institute
,
University of Lausanne
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Publisher: MDPI AG
Date: 28-10-2022
DOI: 10.3390/JPM12111781
Abstract: Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.
Publisher: Elsevier BV
Date: 08-2019
DOI: 10.1016/J.FORSCIINT.2019.05.046
Abstract: Deliberate fires are a very common problem affecting all countries around the world. They create a high sense of insecurity within communities, consuming and straining many resources (human and financial). Yet, despite various attempts, significantly tackling and reducing deliberate fires has remained largely ineffective, mainly due to the case-by-case approach implemented in responding to these incidents. Drawing on the repetitive nature of some types of deliberate fires, it was shown that adopting an intelligence-based approach is promising in tackling and reducing repetitive deliberate fires. This paper presents a two-fold procedure developed to produce intelligence on a dataset of fire events that were either deliberate or unknown in origin. Firstly, through the creation of a relevant dataset (which is a peculiar problem due to the specificities of the event of fire) and secondly through the application of specific analyses. This procedure was implemented on a dataset of fire events collated from a nine-year period in the State of Geneva, Switzerland. Results show that rudimentary data and simple processing can already generate valuable intelligence, often unsuspected until then. These results provide responding agencies with a clearer understanding of the problem, which can also support their decision-making process. This study proposes the basis for the development of an integrated real-time intelligence process. Such a process would allow the systematic and real-time monitoring of fire events in general and deliberate fires in particular by providing an immediate view of the problem, detecting recurrent events and revealing linkages between cases indicating repetitions. In terms of policies and governance, such a study should encourage institutions that deal with fires to collectively reshape their objectives, share data and analyses, and coordinate their actions to reduce harm.
Publisher: Springer Science and Business Media LLC
Date: 14-09-2023
Publisher: Springer Science and Business Media LLC
Date: 06-06-2023
DOI: 10.1038/S41431-023-01395-9
Abstract: Genetic risk information for medically actionable conditions has relevance for patients’ blood relatives. However, cascade testing uptake in at-risk families is %, and the burden of contacting relatives is a significant barrier to dissemination of risk information. Health professionals (HPs) could notify at-risk relatives directly, with patients’ consent. This practice is supported by international literature, including strong public support. However, there is little exploration of the Australian public’s views about this issue. We surveyed Australian adults using a consumer research company. Respondents were provided a hypothetical scenario and asked about views and preferences regarding direct contact by HPs. 1030 members of the public responded, with median age 45 y and 51% female. The majority would want to be told about genetic risk for conditions that can be prevented/treated early (85%) and contacted directly by a HP (68%). Most preferred a letter that included specific information about the genetic condition in the family (67%) and had no privacy concerns about HPs sending a letter using contact details provided by a relative (85%). A minority ( 5%) had significant privacy concerns, mostly about use of personal contact information. Concerns included ensuring information was not shared with third parties. Almost 50% would prefer that a family member contacted them before the letter was sent, while about half did not prefer this or were unsure. The Australian public supports (and prefers) direct notification of relatives at risk of medically actionable genetic conditions. Guidelines would assist with clarifying clinicians’ discretion in this area.
Publisher: Wiley
Date: 23-10-2019
DOI: 10.1111/ADD.14767
Publisher: Springer Science and Business Media LLC
Date: 14-07-2018
DOI: 10.1007/S11657-018-0493-X
Abstract: Research on non-communicable diseases (NCD) in Indigenous Australians has mostly focused on diabetes mellitus and chronic kidney or cardiovascular disease. Osteoporosis, characterised by low bone mass and structural deterioration of bone tissue, and sarcopenia, the age-related loss of muscle mass and strength, often co-exist with these common NCDs-the combination of which will disproportionately increase bone fragility and fracture risk and negatively influence cortical and trabecular bone. Furthermore, the social gradient of NCDs, including osteoporosis and fracture, is well-documented, meaning that specific population groups are likely to be at greater risk of poorer health outcomes: Indigenous Australians are one such group. This review summarises the findings reported in the literature regarding the muscle and bone health of Indigenous Australians. There are limited data regarding the musculoskeletal health of Indigenous Australians however, areal bone mineral density (aBMD) measured by dual-energy X-ray absorptiometry (DXA) is reported to be greater at the hip compared to non-Indigenous Australians. Falls are the leading cause of injury-related hospitalisations in older Australians, particularly Indigenous Australians, with a great proportion suffering from fall-related fractures. Despite sparse data, it appears that Indigenous men and women have a substantially higher risk of hip fracture at a much younger age compared to non-Indigenous Australians. Data on more detailed musculoskeletal health outcomes are required in Indigenous Australians to better understand fracture risk and to formulate evidence-based strategies for fracture prevention and to minimise the risk of falls.
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Evanthia Olympia Madelli.