Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland

SM Kerr, L Klaric, MD Muckian, E Cowan… - European Journal of …, 2024 - nature.com
For breast and ovarian cancer risk assessment in the isolated populations of the Northern
Isles of Orkney and Shetland (in Scotland, UK) and their diasporas, quantifying genetically …

Global perspectives on returning genetic research results in Parkinson's disease

AH Tan, P Saffie-Awad, AFS Schuh, SY Lim, H Madoev… - medRxiv, 2024 - medrxiv.org
In the era of precision medicine, genetic test results have become increasingly relevant in
the care of patients with Parkinson's disease (PD) and their families. While large PD …

Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan

K Ohneda, Y Suzuki, Y Hamanaka, S Tadaka… - Journal of Human …, 2025 - nature.com
Large-scale population cohort studies that collect genomic information are tasked with
returning an assessment of genetic risk for hereditary cancers to participants. While several …

Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives

JJ Nolan, J Forrest, E Ormondroyd - Genetics in Medicine, 2024 - Elsevier
Abstract Purpose Participants in the 100,000 Genomes Project, a clinical/research initiative
delivered through the UK National Health Service, were offered screening for “additional …

Global Perspectives on Returning Genetic Research Results in Parkinson Disease

AH Tan, P Saffie-Awad, AF Schumacher Schuh… - Neurology …, 2024 - neurology.org
Background and Objectives In the era of precision medicine, genetic test results have
become increasingly relevant in the care of patients with Parkinson disease (PD). While …

Two founder variants account for over 90% of pathogenic BRCA alleles in the Scottish Islands Orkney and Shetland

SM Kerr, L Klaric, M Muckian, E Cowan… - European Journal of …, 2024 - research.ed.ac.uk
Pathogenic variants in BRCA1 and BRCA2 confer a high lifetime risk of breast, ovarian and,
for BRCA2, male breast and prostate cancer [1–3]. Genetic testing for disease-associated …

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity

G Giardino, G Di Matteo, S Giliani, S Ferrari… - Journal of Allergy and …, 2024 - Elsevier
Background Inborn errors of immunity (IEIs) comprise more than 500 different rare
congenital disorders of the immune system and are characterized by susceptibility to …

[HTML][HTML] Nephrologists' Views on a Workflow for Returning Genetic Results to Research Participants

R Weiss, HM Rasouly, M Marasa, H Fernandez… - Kidney International …, 2024 - Elsevier
Introduction Returning research-based genetic results (gRoR) to participants in nephrology
research can improve care; however, the practice raises implementational questions and no …

Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and Shetland

SM Kerr, L Klaric, MD Muckian, E Cowan, L Snadden… - medRxiv, 2024 - medrxiv.org
For breast and ovarian cancer risk assessment in the isolated populations of the Northern
Isles of Orkney and Shetland (in Scotland, UK) and their diasporas, quantifying genetically …

Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of results

SM Kerr, L Klaric, MD Muckian, K Johnston, C Drake… - medRxiv, 2024 - medrxiv.org
The benefits of returning clinically actionable genetic results to participants in research
cohorts are accruing, yet such a genome-first approach is challenging. Here, we describe …