Table 1 Landscape of genomic health data generation in the UK.
Source | NHS GMS [2] | 100kGP [1] | UK Biobank [3] | OFH [5] | DTC [8] | |
|---|---|---|---|---|---|---|
Clinically directed? | Yes; according to NGTD | Yes; according to 100kGP eligibility criteria | Yes; rare disease | No | No | No |
Goals | Diagnosis, treatment, research database; embedding WGS into routine care | Diagnosis, treatment, research database; NHS transformation | Diagnosis, treatment, research database | Research database | Research database for early detection of disease | Individual health and non-health related results; research database |
Technology | Sequencing (whole genome or gene panel) | Sequencing (whole genome) | Sequencing (whole exome/ genome) | SNP genotyping; sequencing (whole exome/ genome) | SNP genotyping | SNP genotyping or sequencing |
Individual genetic findings made available? | Yes (pertinent to presentation) | Yes (pertinent to presentation, and ‘additional findings’) | Yes (pertinent to presentation) | No | Yes (PRS) | Yes (selected) |
Finance | Public | Publica, charitable | Public, charitable | Public, charitable | Public, commercial | Commercial |
Scale | 500,000 genomes | 100,000 genomes | 13,500 families; 13,000 participants | 500,000 participants | 5 million participants | Unlimited |
