Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data
Addressing Indigenous rights and interests in genetic resources has become increasingly
challenging in an open science environment that promotes unrestricted access to genomic …
challenging in an open science environment that promotes unrestricted access to genomic …
[HTML][HTML] Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia
GF Watts, DR Sullivan, DL Hare, KM Kostner… - Heart, Lung and …, 2021 - Elsevier
Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic
disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) …
disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) …
The time has come: embedded implementation research for health care improvement
Rationale, aims, and objectives The field of implementation science has developed in
response to slow and inconsistent translation of evidence into practice. Despite utilizing …
response to slow and inconsistent translation of evidence into practice. Despite utilizing …
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 …
demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However …
Parental health spillover effects of paediatric rare genetic conditions
Purpose The complexity and severity of rare genetic conditions pose substantial burden to
families. While the importance of spillovers on carers' health in resource allocation decisions …
families. While the importance of spillovers on carers' health in resource allocation decisions …
Australian genomics: a federated model for integrating genomics into healthcare
Australian Genomics is a national collaborative research partnership of more than 80
organizations piloting a whole-of-system approach to integrating genomics into healthcare …
organizations piloting a whole-of-system approach to integrating genomics into healthcare …
Aligning intuition and theory: a novel approach to identifying the determinants of behaviours necessary to support implementation of evidence into practice
Background Disentangling the interplay between experience-based intuition and theory-
informed implementation is crucial for identifying the direct contribution theory can make for …
informed implementation is crucial for identifying the direct contribution theory can make for …
QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic …
Background Genomic testing transforms the diagnosis and management of rare conditions.
However, uncertainty exists on how to best measure genomic outcomes for informing …
However, uncertainty exists on how to best measure genomic outcomes for informing …
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
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 …
paradigm shift in how clinical genomics is delivered. We aimed to map the current manual …
Teamwork in clinical genomics: a dynamic sociotechnical healthcare setting
Rationale, aims and objectives Teamworking across sociotechnical boundaries in
healthcare is growing as technological advances in medicine abound. With this progress …
healthcare is growing as technological advances in medicine abound. With this progress …