Stratified PRS Inherited Cancer Early Diagnosis (SPICED) Study
Research type
Research Study
Full title
Liquid biopsy screening for early diagnosis of cancers in patients with higher risk of cancer defined by high Polygenic Risk Score (PRS)
IRAS ID
320577
Contact name
Richard Lee
Contact email
Sponsor organisation
The Royal Marsden NHS Foundation Trust
Duration of Study in the UK
7 years, 0 months, 1 days
Research summary
A polygenic risk score (PRS) is a recently developed mathematical score that can predict an individual's risk of developing certain diseases, based on the affected genes they carry. Individuals who have PRS calculated because of family history or within research studies currently have no options to undergo screening if they are deemed at a higher risk of developing cancer, compared to people who have one known gene affected (such as BRCA1, BRCA2, Lynch genes). In case of a family history of breast cancer, women who have at least one first-degree relative (FDR) with breast cancer have the option of undergoing mammography (40). However, men who have an FDR with prostate cancer, don’t have access to any screening options before the age of 50 years old when PSA is offered. There is a clear need for newer approaches for the early detection of cancer in these high-risk cohorts, less invasive for the patient, less resource-intensive and of improved sensitivity.
The SPICED study has been designed to investigate the role and feasibility of ctDNA (liquid biopsy) in patients who are considered at high risk of developing cancer due to a high polygenic risk score or underlying germline predisposition.
This study will inform whether the use of peripheral blood and urine ctDNA and the detection of genetic and epigenetic changes could serve as a blood biomarker to detect tumour development in patients at high risk of cancer for earlier diagnosis of such tumours.
REC name
Wales REC 6
REC reference
25/WA/0109
Date of REC Opinion
15 Apr 2025
REC opinion
Favourable Opinion