Having an elevated genetic predisposition for a condition does not equate to a diagnosis; it is, above all, a mathematical probability. Factors such as genetic penetrance indicate that being a carrier of certain variants does not guarantee the development of the disease 100%. Your environment, your diet, and your lifestyle play a crucial role and have the final say.
The calculation engine: Polygenic Risk Score (PRS)
The vast majority of complex diseases (such as type 2 diabetes or cardiovascular pathologies) do not depend on the mutation of a single gene. They are the result of thousands of small combined variations. To evaluate this, we use the Polygenic Risk Score (PRS), which works through the following steps:
- Massive analysis (GWAS): We compare your DNA variants with extensive worldwide genomic studies.
- Cumulative effect: We analyse and sum up the statistical weight of thousands of genetic markers simultaneously.
- Population context: We calculate your population percentile to find out if your risk level is above, below, or at the usual average.
Genotyping vs. Sequencing
To apply these mathematical formulas, we first need to extract and "read" the information from your cells. In recent years, laboratory methodologies have evolved drastically:
- Genotyping (Microarrays): It is the classic and validated technology. It works by searching for specific variations in specific places of your genome, as if you were searching for already known "keywords" in a book. It is very efficient for tracking common health markers and wellness traits. This technology is present in our Starter DNA test and Advanced.
- Whole Genome Sequencing (WGS): It is the great technological leap in preventive medicine. WGS technology reads your DNA from start to finish, letter by letter. This allows us to detect both common variants and rare mutations with unparalleled clinical depth, being the engine behind advanced tests such as our Ultra WGS 30x DNA test.
Having access to your genetic information through a DNA test grants you the greatest of superpowers: prevention. With a detailed map in your hands, you can work proactively alongside your doctor to anticipate and personalise your healthcare.
