[HTML][HTML] Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
[HTML][HTML] How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review
IA Sherburn, K Finlay, S Best - European Journal of Human Genetics, 2023 - nature.com
The benefits of genomic testing are primarily reported in rare disease, cancer diagnosis and
disease management. However, as research into its application in common, more complex …
disease management. However, as research into its application in common, more complex …
The adaptiveness of the healthcare system to the fourth industrial revolution: A preliminary analysis
M Ćwiklicki, J Klich, J Chen - Futures, 2020 - Elsevier
We are witnessing the rapid development of new technologies, sophisticated devices and
related applications fuelled by the fourth industrial revolution in healthcare systems. The aim …
related applications fuelled by the fourth industrial revolution in healthcare systems. The aim …
[HTML][HTML] Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics …
Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
[HTML][HTML] The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments
Purpose To estimate the personal utility and uptake of genomic sequencing (GS) across
pediatric and adult-onset genetic conditions. Methods Three discrete choice experiment …
pediatric and adult-onset genetic conditions. Methods Three discrete choice experiment …
[PDF][PDF] Significance tests for R2 of out-of-sample prediction using polygenic scores
The coefficient of determination (R 2) is a well-established measure to indicate the predictive
ability of polygenic scores (PGSs). However, the sampling variance of R 2 is rarely …
ability of polygenic scores (PGSs). However, the sampling variance of R 2 is rarely …
[HTML][HTML] Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people
J Luke, P Dalach, L Tuer, R Savarirayan… - Nature …, 2022 - nature.com
Globally, there is a recognised need that all populations should be able to access the
benefits of genomics and precision medicine. However, achieving this remains constrained …
benefits of genomics and precision medicine. However, achieving this remains constrained …
[HTML][HTML] Healthcare system priorities for successful integration of genomics: an Australian focus
BL Burns, GA Bilkey, EP Coles, FL Bowman… - Frontiers in Public …, 2019 - frontiersin.org
This paper examines key considerations for the successful integration of genomic
technologies into healthcare systems. All healthcare systems strive to introduce new …
technologies into healthcare systems. All healthcare systems strive to introduce new …
A maturity matrix for nurse leaders to facilitate and benchmark progress in genomic healthcare policy, infrastructure, education, and delivery
Purpose Nurse leaders driving strategic integration of genomics across nursing need tools
and resources to evaluate their environment, guide strategies to address deficits, and …
and resources to evaluate their environment, guide strategies to address deficits, and …
[HTML][HTML] A survey of genetic and palliative care health professionals' views of integrating genetics into palliative care
Genetic counselling and testing have utility for people with palliative care needs and their
families. However, genetic and palliative care health professionals have described …
families. However, genetic and palliative care health professionals have described …