Polygenic risk scores, which consist of combining information from thousands of individual genetic variants, can be a powerful approach to identify individuals with markedly higher (or lower) risk of particular diseases.
Polygenic risk scores are not stand-alone diagnosis tools. They complement existing risk factors to improve screening programmes by better targeting at-risk individuals. They can also be used to better interpret screening tests.
For many diseases improved prevention is possible for those individuals at high risk through either lifestyle changes or medical intervention.
In cases where diagnosis is challenging, genetic information can provide additional information to support the medical team.
Our ongoing research will continue to improve the power of these predictions, their applicability to a diverse range of ancestries, and the suite of clinical applications where they can be applied.