How does Genomics plc work out my personalised risk for a health condition?
Our tools are based on a scientific measurement of your genetic information called a Polygenic Risk Score (PRS), which is then integrated with non-genetic information. A PRS provides a summary of your genetic predisposition to a particular health condition.
DNA can be thought of as a string containing billions of letters. Whilst over 99% of the sequence is shared by all human beings, there are also millions of points where two alternative letters are each commonly seen in the population. We have identified tens of thousands of these genetic locations where one letter is associated with a different level of risk for a health condition than the other letter. Our test reads the letters at each of these locations, and combines the risk information across all of these positions. For every health condition, there is a different set of locations that matter, and a different PRS, which we combine with risk factors relevant to that particular condition, such as your biological sex or BMI score. The result is a personalised risk for a specific health condition.
How do I get a Genomics plc test?
Genomics plc’s services are designed to be offered through doctors, clinical networks, hospitals or other health providers or systems.
We work with our partners in two different ways. Our tests are used in the clinic as clinical decision support tools, to help your doctor develop a health management strategy tailored to you by working out your risk for a specific health condition, such as heart disease or breast cancer. Our tests are also used by health systems in population health management tools, which identify your risk for many different health conditions at once. Health systems can then use this information to determine whether you and other people with your risk profile might benefit from early interventions – such as screening tests or medical treatments. Although they are used by slightly different parts of a health system, both tools work in a similar way: they measure your risk for health conditions and provide personalised insights for you.
How is this different from other genetic tests?
Most genetic tests look at a small number of positions in the genetic sequence where we know that a ’spelling mistake’ (mutation) causes the person to have a particularly high risk of disease, or to even give a guaranteed outcome of disease. These types of mistakes are very rare. Examples include the mutations which cause Huntington’s disease or cystic fibrosis, or mutations in the BRCA1 and BRCA2 genes which greatly increase a woman’s risk of breast or ovarian cancer. In contrast, our test looks at more common variations in the genetic sequence. Although each variant only has a small effect on the risk of a disease or health condition, by combining information from tens of thousands of these common variants in a Polygenic Risk Score, along with information about non-genetic risk factors, we can see substantial differences in risk between individuals.