A University of Exeter study published in Genome Medicine on October 22, 2026, analyzed whole genome sequences from nearly 1 million individuals in the UK Biobank and US All of Us programs. Researchers found that the average human carries around 5 million genetic variants and falls in the top 10% of polygenic risk scores for about three common diseases, such as diabetes and schizophrenia. Lead author Caroline Wright emphasizes that carrying risk variants rarely guarantees illness, warning against misinterpreting genetic profiles without clinical context.
Polygenic risk score findings for common diseases
- ▪A University of Exeter study published in Genome Medicine on October 22, 2026 analyzed whole genome sequences from nearly one million individuals in the UK Biobank and US All of Us research programs.
- ▪Approximately one in five people place in the top 1% of polygenic risk scores for at least one of 28 common medical conditions.
- ▪The University of Exeter study found that most individuals place in the top 10% of genetic risk scores for approximately three common conditions among 28 analyzed diseases.
Clinical limitations and risks of genetic screening
- ▪University of Exeter researchers cautioned that broad screening tests reporting numerous polygenic risk scores together could lead to unnecessary anxiety, follow-up testing, and overdiagnosis.
- ▪University of Exeter professor Caroline Wright stated that genetic test results require clinical context, including physical symptoms, family medical history, and environmental risk factors.
Need for diverse ancestry in genetic data
- ▪University of Exeter researchers stated that genetic data in the UK Biobank and US All of Us programs are skewed toward individuals of Western European ancestry, requiring more diverse datasets.
- ▪Researchers acknowledged that representative genetic data from under-represented global populations, such as India, are needed to establish how accurately polygenic risk scores perform across diverse demographic groups.
General characteristics of the human genome
- ▪An average person carries between one and three rare genetic variants classified as pathogenic or likely pathogenic for serious single-gene disorders.
- ▪The average human genome carries approximately 50 rare genetic variants whose clinical relevance is currently classified as of uncertain significance.
- ▪Individuals in the UK Biobank and US All of Us datasets recruited alongside their parents carried approximately 63 de novo mutations, which increased by about 1.2 mutations per year of paternal age.
- ▪The average human genome contains approximately 4.3 million to 5 million genetic variants, including about 10,000 variants that alter gene sequences with positive, negative, or neutral biological effects.
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