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A new study has characterized the "average" human genome, providing key information on normal human genetic variation and genetic disease risk. The researchers conclude that everyone—regardless of their current health status—could potentially be told they are at risk for numerous conditions based on their genetics alone.

Led by the University of Exeter, the study is published in Genome Medicine and was presented at the American Society of Human Genetics annual meeting. The paper is titled "The average individual genome: a survey of nearly 1 million whole-genome sequences."

The team analyzed data from two major population biobanks that include whole genome sequencing, totaling nearly 1 million individuals.

Key findings include that every person's genome includes around 5 million variants, or locations in the DNA that differ between individuals. These include around 10,000 that alter gene sequences, which can have a positive or negative effect—ranging from lactose intolerance to drug response—but are often biologically neutral.

Every person also has between one and three rare variants that have previously been shown to cause serious genetic diseases, and another 50 rare variants that are currently of uncertain clinical relevance.

The team also analyzed numerous polygenic risk scores , which take into account all known genetic factors to calculate the risk of getting a disease in the future. Looking at polygenic scores for 28 common conditions—such as diabetes, cardiovascular disease and schizophrenia—they found that most people would be categorized as at high genetic risk for around three conditions.

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