[HTML][HTML] Genetic testing in neurodevelopmental disorders

JM Savatt, SM Myers - Frontiers in Pediatrics, 2021 - frontiersin.org
Neurodevelopmental disorders are the most prevalent chronic medical conditions
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 …

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 …

[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 …

HV Reddi, H Wand, B Funke, MT Zimmermann… - Genetics in …, 2023 - Elsevier
Disclaimer: This Points to Consider document is designed primarily as an educational
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

I Goranitis, S Best, J Christodoulou, Z Stark… - Genetics in …, 2020 - Elsevier
Purpose To estimate the personal utility and uptake of genomic sequencing (GS) across
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

MM Momin, S Lee, NR Wray, SH Lee - The American Journal of Human …, 2023 - cell.com
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 …

[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 …

[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 …

A maturity matrix for nurse leaders to facilitate and benchmark progress in genomic healthcare policy, infrastructure, education, and delivery

E Tonkin, KA Calzone, L Badzek… - Journal of Nursing …, 2020 - Wiley Online Library
Purpose Nurse leaders driving strategic integration of genomics across nursing need tools
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

S White, E Turbitt, K Rogers, K Tucker… - European Journal of …, 2024 - nature.com
Genetic counselling and testing have utility for people with palliative care needs and their
families. However, genetic and palliative care health professionals have described …