| Title: |
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice. |
| Authors: |
Jones, A-B; Pichert, G; Side, L; Homfray, T; McVeigh, T; Hicks, S; Williams, C; Pellerin, D; Cirigliano, V; Leon, M; Palao, B; Izquierdo, L; Ordonez, E; Gongora, E; Davies, C; Healy, J; Thomas, R; Narayanan, P; Al Shakarchi, G; Amin, Z; Dadaev, T; Bancroft, E; Kote-Jarai, Z; Eeles, R; Sandberg, M |
| Contributors: |
Mcveigh, Terri; Kote-Jarai, Zsofia; Eeles, Rosalind |
| Publisher Information: |
NATURE PORTFOLIO |
| Publication Year: |
2026 |
| Collection: |
The Institute of Cancer Research (ICR): Publications Repository |
| Subject Terms: |
Humans; Male; Female; United Kingdom; Whole Genome Sequencing; Middle Aged; Germ-Line Mutation; Adult; Genetic Testing; Feasibility Studies; Genetic Predisposition to Disease; Aged; Private Practice; General Practice |
| Subject Geographic: |
England |
| Description: |
Whole genome sequencing (WGS) presents an opportunity to identify asymptomatic individuals at increased risk for disease. We set up a model pathway to assess the use of WGS combined with a medical assessment in primary care. We recruited 104 participants (102 unrelated) from a private general practice for a medical assessment, WGS and panel testing. WGS analysed 566 clinically actionable genes, including moderate to high-risk monogenic traits, recessive traits and pharmaco-genes. Polygenic risk scores (PRS) were calculated for 4 cancers. Twenty-three individuals (22%) had an actionable germline variant in cancer, cardiac, lipid or thromboembolic genes. Ten of these (43%) had pathogenic variants in cancer predisposition genes, 60 (58%) participants harboured recessive genetic alterations and 43 (41%) had pharmacogenetic variants. Our findings show WGS in primary care identified actionable variants in 22% of individuals resulting in a change in clinical management. Pharmacogenomics may alter prescribing in a further 41%. |
| Document Type: |
article in journal/newspaper |
| File Description: |
Electronic; application/pdf |
| Language: |
English |
| ISSN: |
2045-2322 |
| Relation: |
ARTN 38526; Scientific Reports, 2025, 15 (1), pp. 38526 -; https://repository.icr.ac.uk/handle/internal/7641 |
| Availability: |
https://repository.icr.ac.uk/handle/internal/7641 |
| Rights: |
http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.C229961B |
| Database: |
BASE |