[HTML][HTML] The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

GA Alarcón Garavito, T Moniz, N Deom… - European Journal of …, 2023 - nature.com
Genomic healthcare programmes, both in a research and clinical context, have
demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However …

[HTML][HTML] What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability

A Ma, R O'Shea, L Wedd, C Wong… - European Journal of …, 2024 - nature.com
Due to the increasing complexity of genomic data interpretation, and need for close
collaboration with clinical, laboratory, and research expertise, genomics often requires a …

[PDF][PDF] Precision medicine in Australia: now is the time to get it right

R O'Shea, AS Ma, RV Jamieson… - The Medical Journal of …, 2022 - mja.com.au
Precision medicine is a tailored approach to health, incorporating an individual's genetic
make-up, environment and lifestyle, and is a new frontier offering much promise for disease …

[HTML][HTML] Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia

Y Malakar, J Lacey, NA Twine, R McCrea… - European Journal of …, 2024 - nature.com
There are inherent complexities and tensions in achieving a responsible balance between
safeguarding patients' privacy and sharing genomic data for advancing health and medical …

Application of complexity theory in health and social care research: a scoping review

Á Carroll, C Collins, J McKenzie, D Stokes, A Darley - BMJ open, 2023 - bmjopen.bmj.com
Background Complexity theory has been chosen by many authors as a suitable lens through
which to examine health and social care. Despite its potential value, many empirical …

[HTML][HTML] Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study

Z Fehlberg, Z Stark, S Best - European Journal of Human Genetics, 2024 - nature.com
Automating reanalysis of genomic data for undiagnosed rare disease patients presents a
paradigm shift in how clinical genomics is delivered. We aimed to map the current manual …

Applying a risk governance approach to examine how professionals perceive the benefits and risks of clinical genomics in Australian healthcare

Y Malakar, J Lacey, NA Twine… - New Genetics and …, 2023 - Taylor & Francis
Clinical genomics is a system of multiple stakeholders and institutions. Yet, studies focusing
on the comparative perspectives of these stakeholders are limited. This study engages four …

[HTML][HTML] Determining priority indicators of utility for genomic testing in rare disease: A Delphi study

Z Fehlberg, I Goranitis, AJ Mallett, Z Stark, S Best - Genetics in Medicine, 2024 - Elsevier
Purpose Determining the value of genomic tests in rare disease necessitates a broader
conceptualization of genomic utility beyond diagnostic yield. Despite widespread …

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

A Ma, TP Newing, R O'Shea… - … of Paediatrics and …, 2024 - Wiley Online Library
Aim Recent rapid advances in genomics are revolutionising patient diagnosis and
management of genetic conditions. However, this has led to many challenges in service …

Developing a coherent theoretical framework for Forest School in the UK

SA Knight - 2022 - repository.londonmet.ac.uk
As an early leader in the development of Forest School (FS) in the UK, I published four
books, eight book chapters and three academic papers between 2009 and 2019. This work …